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Dr Mohamed El Koumi
Consultant Pediatrics and Pediatric Nephrology
MD Pediatrics
Membership of Royal College of Pediatrics and Child Health
(MRCPCH; UK), (FRCPCH, UK)
IPNA Senior Clinical Fellow Pediatric Nephrology, Queen Elizabeth
Hospital, Glasgow, Scotland (UK)
Assistant professor of pediatrics


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Dr Ayman Azab
Professor of pediatrics and neonatology, National Research Center
Consultant neonatologist, Adan hospital, Kuwait

Dr Osama Taha Amer

Professor of pediatrics, Zagazig University
Consultant pediatric pulmonologist

Dr Laila Sherief
Professor of pediatrics, Zagazig University
Consultant pediatric hematology and oncology
 &ŽƌĞǁŽƌĚ
I was very blessed to issue this new edition of Illustrated Baby Nelson
with three pioneer figures in pediatrics and neonatology sharing their
thoughts, insights and relentless revision of neonatology, hematology
and pulmonology chapters. Hats off to Dr Ayman Azab, Dr Osama Taha
Amer, Dr Laila Sherief.

Thank you for the man for whom I myself and this book owe him so
much and without his support it would never come to light and
persist; Mr Sayed Mahmoud, founder of university book center.
Thanks to his soul that exist with and inspire us all

And finally I end my foreword with these lines to Richard Templer:

“Be prepared to be a little brave every day. If you don’t, you’ll grow
stagnant and mouldy. We all have a comfort zone where we feel safe
and warm and dry. But every now and then we need to step outside
and be challenged, be frightened, be stimulated. It’s this way that we
stay young and feel good about ourselves “ 

Richard Templer (The rules of life)

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Page | 1
3 Illustrated Baby Nelson

List Of Abbreviations


Lt. V. : Left ventricle

Rt. V. : Right ventricle
Lt. A : Left atrium
Rt. A : Right atrium
LVH : Left ventricle hypertrophy.
RVH : Right ventricle hypertrophy
LAD : Left atrium dilatation
RAD : Right atrium dilatation
C.P. angle. : Cardiophernic angle
P.H+ : Pulmonary hypertension
S1 : First heart sound
S2 : Second heart sound
P2 : Pulmonary component of the second heart sound
A2 : Aortic component of the second heart sound.
RVF : Right ventricle failure.
LVF : Left ventricle failure
BVF : Biventricular failure
COP : Cardiac output
LPSB : Left parasternal border
CXR : Chest X-ray
SBE : Subacute bacterial endocarditis
RBBB : Right bundle branch block
VMA : Vallinyle mandilic acid
BVH : Biventricular hypertrophy.
PGE1 : Prostaglandin E1
PFO : Patent formen ovale.
TOF : Tetralogy of Fallot
DORV : Double outlet right ventricle
 Page | 3 Illustrated Baby Nelson

Diagnosis of a cardiac patient



6WHS+LVWRU\2I

 n Pulmonary venous
 congestion (PVC)

 

In infants  In older child
- Poor feeding (dyspnea - Dyspnea; exertional and

on suckling) positional with or without

- Recurrent heart failure paroxysmal nocturnal
 
- Recurrent chest dyspnea

infections - Cough exertional & positional
 - Hemoptysis
- Retarded growth





 

o Systemic venous p Low cardiac output

 congestion (SVC) (LCOP)
 symptoms

- Edema (dependent, bilateral , - Dizziness

pitting edema) - Easy fatigability
- Dyspepsia - Exertional syncopal attacks
- Abdominal pain (enlarged - Chest pain
tender liver) - Retarded growth


q Central Cyanosis 


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Suspected congenital heart disease Suspected rheumatic heart disease

- Cyanosis (in lips & extremities) - Start with measuring blood pressure &
- Characteristic facies (e.g. Down) checking peripheral signs suggesting AR.
- Check patient’s weight and height - Check for edema in dyspneic patient
And plot on appropriate charts - Clubbing of fingers and toes and other
- Check blood pressure & pulse features suggesting infective endocarditis
- Clubbing of fingers and toes
Page | 4
2 Illustrated Baby Nelson

Remember the following notes

A
* Most of the anterior surface
of the precordium is made
of right ventricle

* Left atrium does not appear

in anterior view

* Any chamber enlarges in

its longitudinal axis mainly

B
During systole; left ventricle
elongate to hit a localized area
of chest wall producing the
apex beat

C
* Right atrium depolarizes
first followed by left atrium
* Both ventricles depolarize
at the same time

* Ventricles depolarize from

inwards to outwards

D
* Pressures in the left side
exceed that in the right

* After birth pressures in the

Right side are slightly higher
than normal

* Pressure values increase

steadily with age
 3
Page | 5 Illustrated Baby Nelson

Step 3 : Precordial examination

Precordial examination includes inspection, palpation and percussion of the precordium. It detects basically cardiac chamber and or big artery enlargement
Precordial examination Chest X Ray ECG

Left ventricle
- Apex beat is shifted down and out
hypertrophy
- Apex beat is localized
(LVH) or
Apex shifts down & V1  Deep S V6  Tall R
Enlargement
out
Obtuse cardiophernic
angle

Right - Apex beat is shifted directly out

ventricle - Apex beat is diffuse
Apex shifts direct out
hypertrophy - Precordial bulge
(RVH) or - Left para sternal pulsation
Acute cardiophernic
Enlargement - Epigastric pulsation
Angle V1 Tall R V6 Deep S

Tall ,peaked P wave (P-pulmonale)

Right atrial
dilatation
Usually is not detectable clinically
(RAD) n Right cardiac shadow

wide and bifid P wave (P-mitrale)

Left atrial
Mitralization
dilatation
Usually is not detectable clinically Double
(LAD)
contour
 2
Page | 6 Illustrated Baby Nelson

Evidence of pulmonary artery dilatation in cases with pulmonary hypertension(PH)

- Palpation of the pulmonary area: Pulsating pulmonary area (normally silent area)
- Percussion of the pulmonary area: Dull (normally resonant area)
Feel the murmur i.e. Thrills (Thrill is a palpable murmur)
Value of detecting thrill
 Definitely, there will be a murmur to be heard with the same timing of the thrill
 This murmur is organic never functional or innocent
 If the murmur is propagating ; the thrill usually is not propagating (i.e. localizing sign)
If thrill is detected; check where?
 Mitral area (left 5th interspace)
 Left parasternal border area(left 3rd and 4th interspaces)
 Pulmonary area(left 2nd interspace)
 Aortic area(right 2nd interspace)
Comment on the apex with (Remember SCART)
Normal apex Abnormal apex
th
Site Occupies the left 5 interspace,  Shifted outward & downward (LVH)
midclavicular line  Shifted direct outward (RVH)
 Absent; impalpable
Character Normal intensity  Hyperdynamic (strong and rapid )in volume overload e.g. MR, CM,AR
 Heaving(strong and sustained) in pressure overload e.g. AS
Area Occupies one interspace  Diffuse (apex beat occupies more than one interspace) in RVH
Rhythm Regular  Irregular in irregular arrhythmias
Thrills Absent  May be Present:
R Systolic thrill ( MR, CM,VSD)
R Diastolic thrill ( MS, CM )
MR: Mitral Regurge; CM: combined mitral lesion (previously double mitral);AR: Aortic Regurge; AS: Aortic stenosis; VSD: ventricular septal defect; MS: Mitral stenosis
 3
Page | 7 Illustrated Baby Nelson

Cardiac Cycle
Systole (duration: ) Diastole

S1 A2 P2

Isometric
Protodiastolic Isometric relaxation Atrial
1st heart sound contraction Ejection phase 2nd heart sound Filling phase
phase phase contraction phase
phase
- Due to closure - Ventricles - Intraventricular - Pressure in - Due to drop of - Ventricles continue - Blood flows from - Atria contract to
of the atrio contract pressure ventricles and intraventricular to relaxodecline atria to the push blood
ventricular without exceeds that in large arteries pressure at start of of intraventricular ventricles due to remaining in
valves at onset change in size big arteries o equalize o no diastoleo blood in pressure pressure the atria(40%)
of systole - Intraventricular semilunar net flow of big arteries try to gradient(60%)
- Amplitude pressure is valves open blood backflowo
depends on increasing semilunar valve ± 3rd heart ± 4th heart
amount of closure sound(vibration of sound(atrial
blood in - Amplitude depends myocardial muscle) contraction against
ventricles at on amount of blood N.B: stiff thickened
start of systole in large arteries at 3rd heart sound can be ventricle)
- Has 2 start of diastole heard in normal N.B:
components; - Has 2 components; infants as well as in 4th heart sound is
mitral & aortic & pulmonary congestive heart almost always
tricusped failure abnormal

4:KDWLVPXUPXU"
 It is abnormal sound due to either blood flowing in an abnormal direction or blood flowing across narrow orifice (organic narrowing e.g. stenosis or relative)
Pressure gradient is required for murmur to develop
Murmurs are graded into 6 grades according to intensity and presence or absence of associated thrills(Grades 1-3 are without thrill and grades 4 - 6 with thrill)
Murmurs may be:
1. Organic: due to organic lesion in the heart either congenital or acquired
2. Relative: due to Ĺ blood flow through normal sized valve (soft, non propagating , without thrills and heart sound related is usually accentuated e.g. relative PS in PH)
3. Innocent murmur: heard over completely normal heart or great vessels. (soft, non propagating , without thrills, systolic, asymptomatic patient, normal heart sounds)
 2
Page | 8 Illustrated Baby Nelson

Step 4 : Auscultation
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1. First heart sound (S1) 2. Second heart sound (S2)
x Due to closure of Atrio ventricular valves at beginning of systole x Due to closure of semilunar valves at beginning of diastole
x Has 2 components oMitral :best heard over mitral area x Has 2 componentso Aortic ;best heard over aortic area
oTricusped : best heard over tricusped area o Pulmonary ;best heard over pulmonary area
x Muffled in oAtrio ventricular valves regurge x Muffled in : semilunar valve stenosis: o Aortic stenosis (pA2)
o Bradycardia oPulmonary stenosis (pP2)
x Accentuated in o Atrio ventricular valves stenosis x Accentuated in hypertension o Systemic hypertension (nA2)
oTachycardia o Pulmonary hypertension (nP2)
x S1 Splits in right and left Bundle branch block (BBB) x S2 Split : see below
Splitting of the second heart sound ( Detected by auscultating the pulmonary area)
Physiologic splitting Wide variable splitting Wide fixed splitting
The two components of S2(A2: aortic R S2 splits in whole respiratory cycle but R Wide splitting
component & P2:pulmonary component) wider splitting in inspiration R Does not vary with the respiratory cycle
usually splits in inspiration & unites in R Occur with prolonged or delayed right R Occurs with ASD
expiration ventricular systole
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S1 A2 P2

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 3
Page | 9 Illustrated Baby Nelson

2. Murmurs
1. Timing
Systolic Murmurs Diastolic Murmurs

Pan systolic Ejection systolic Early diastolic Mid diastolic

S1 S2 S1 S1 S2 S1 S1 S2 S1 S1 S2 S1

2. Site of Mitral area Left sternal Tricusped Aortic area Pulmonary Aortic areas Mitral area
maximum Border(3,4) area area
Intensity
Diagnosis MR VSD,ECD TR AS PS AR MS
Sounds p S1 p S1 p A2 p P2 n S1
Characters Blowing Harsh Blowing Harsh Harsh Soft Rumbling
Propagation Axilla Precordium Neck& Apex Sternal border Second aortic area Localized
ECD: Endocardial cushion defect; TR: tricuspid regurge; PS: pulmonary stenosis
N.B: Continuous (machinery or systolic/diastolic) murmurs: See later in PDA
Q2: Auscultatory findings in pulmonary hypertension(PH)?
1. Ejection systolic murmur over pulmonary area (with the relative murmur criteria)
2. Accentuated pulmonary component of the second heart sound
.B: pulmonary hypertension occur in cases with prolonged pulmonary congestion or prolonged increase pulmonary blood flow
Step 5 : Investigations
1. ECG and chest x ray: Help precordial examination in detecting cardiomegaly (ECG is invaluable for diagnosis of dysrhythmia and ischemia)
2. Echocardiography (& preoperative catheterization): Help auscultation establishing the final diagnosis
Value: - Describe lesions (site, size, intracardiac pressures, flow across the lesion and ventricular function).
- Detect complications e.g. Infective endocarditis, cardiomegaly
 Page | 10
2 Illustrated Baby Nelson

Congenital Heart Diseases (CHD)

Incidence
- 8 per 1000 live born infants have significant cardiac malformation
- The commonest CHD are VSD (30%), PDA (12%), and ASD (7%)
- About 10-15 % have complex lesions with more than one cardiac abnormality
Risk Factors
R Genetic predisposition suggested by family history of CHD
R Exposures during pregnancy e.g.
a. Drugs e.g. warfarin, anticonvulsants, alcohol
b. Diseases e.g. maternal rubella (o PDA), Maternal Diabetes Mellitus
R Chromosomal e.g.
a. Down syndrome o Atrio ventricular septal defect, VSD
b. Turner syndromeo Aortic stenosis, coarctation of aorta
c. Williams syndromeo Supra valvular aortic stenosis , pulmonary stenosis

a b c
Presentation
R Coincidental; accidental discovery of a murmur in an asymptomatic infant
R Cardiac failure /Cardiogenic shock e.g. in neonate ( critical aortic stenosis and
severe coarctation) or in infants(CHD with high pulmonary flow)
R Congestive pulmonary symptoms e.g. CHD with high pulmonary flow
R Cyanosis e.g. congenital cyanotic heart diseases
R Cardiomegaly detectable clinically or during routine chest radiograph
R Certain anatomic diagnosis may not be made by physical examination or chest
x ray or ECG alone ,so echocardiography is the mainstay of diagnostic imaging
R Recently
1. Antenatal fetal anomaly ultrasound screening
 Can diagnose up to 70 % of significant lesions ,allowing earlier
diagnosis and planning of management
 Important for any fetus with an increased risk e.g. Down syndrome
2. MRI allows 3 dimensional imaging of complex CHD, assessment of
hemodynamics, assists interventional cardiology and reduces the need for
cardiac catheterization. (Illustrated textbook of Paediatrics, Tom Lissauer)
Page | 11
3 Illustrated Baby Nelson

Acyanotic Congenital Heart Diseases (ACHD)

ACHD constitutes 80% of all CHD

Classification
i. ACHD with left to right shunt (Potentially cyanotic CHD)
The commonest lesions in this category are
 Ventricular septal defect (VSD)
 Patent ductus arteriosus (PDA)
 Atrial septal defect (ASD)
General clinical features
1. Degree of the left to right shunt, and 2. Manifestations of high pulmonary blood
consequently clinical manifestations is flow
dependent on: x Poor feeding (sweating and tachypnea)
R Size of the defect. in babies, exercise intolerance and easy
R Pressure gradient across the defect. fatigability in children
x Recurrent chest infections & chest
wheezes.
x Recurrent heart failure.
x Growth failure (faltering of growth)

3. Heart failure 4. Eisenmenger syndrome: Prolonged high

Usually GRHVQ¶WRFFXULQfull pulmonaU\EORRGIORZĺSXOPRQDU\
term neonates but can occur in K\SHUWHQVLRQGHYHORSVĺZLWKWLPHULJKWVLGH
infancy as pulmonary vascular KHDUWSUHVVXUHVH[FHHGVWKDWRIWKHOHIWĺ
pressure declines. UHYHUVDORIWKHVKXQWĺFHQWUDOF\DQRVLV
Risk is higher with large unrepaired defects
ii. ACHD without shunt
1. Obstructive lesions e.g. Aortic coarctation, Aortic stenosis, Pulmonary stenosis
Common clinical features:
1- Severe obstructive lesions can present early in life with heart failure.
2- Low cardiac output manifestations.
2. Non obstructive lesions e.g. Dextrocardia, Mitral valve prolapse
Page | 12
2 Illustrated Baby Nelson


Ventricular septal defect (VSD)

Definition
Defect anywhere in the interventricular septum
Types of VSDs:

Inlet defect

Outlet defect; (also called

Perimembraneous defect: infundibular or sub
Adjacent to tricuspid valve arterial).
The commonest type (70%)
Muscular defects: Either
single or multiple (Swiss
cheese).

Hemodynamics


x Blood is shunted from the left ventricle(higher

pressure) to the right ventricle(lower pressure)

x Increased pulmonary blood flow

x Pulmonary congestive symptoms

x Volume overload over right ventricle ,left
atrium and left ventricle

Clinical picture

Small VSD Large VSD

General - Usually asymptomatic History
manifestations - Discovered accidentally x Breathlessness during suckling
x Recurrent chest infections
x Recurrent chest wheezes
Physical
x Breathlessness ,tachypnea,
tachycardia and enlarged tender liver
(heart failure)
x Faltering of growth
Page | 13
3 Illustrated Baby Nelson

Small VSD Large VSD

Precordial - Systolic thrill over the lower left sternal border
Examination - Biventricular enlargement by 2 months
of age
- Active precordium
Auscultation x Murmur of VSD x Murmur of VSD
- Pansystolic. Same but softer
- On lower left sternal border. x Pulmonary area: Accentuated P2 &
- Propagate all over the heart. soft systolic murmur indicates
- Harsh ; loud . pulmonary hypertension.

x Apical
 Short rumbling mid diastolic murmur
 Produced by the increased volume of
blood flow across the mitral valve
 Usually indicates a Pulmonary-to-
systemic blood flow ratio ratio of at
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Complications x Infective endocarditis x Heart failure
x Infective endocarditis
x Higher risk of Eisenmenger syndrome
Investigations
*Chest X-ray - Normal - Cardiomegaly with biventricular
enlargement & plethoric lungs.
* ECG - Normal - Biventricular enlargement (LVH and RVH
* Echo - Diagnostic (size smaller than - Diagnostic
aortic in diameter ;up to 3mm)
* Catheter - - Pre operative / interventional
Treatment
1. Small defect
- Avoid infective endocarditis by dental hygiene and antibiotic prophylaxis.
- Reassurance ; ( surgical intervention is not usually recommended)
- Follow up with ECG & Echo to confirm spontaneous closure
Page | 14
2 Illustrated Baby Nelson


2. Large defect
A. Medical
- Control heart failure (Diuretics, Captopril).
- Antibiotics for chest infections
- Additional calorie input and monitor growth
- Avoid infective endocarditis
- Follow up with ECG & Echo to confirm spontaneous closure.
B. Surgical
– Types
i- Palliative: Pulmonary artery banding  reduce pulmonary blood flow
ii- Direct closure of the defect
– Indications
i- Symptomatic large defects with uncontrollable heart failure or Growth
failure
ii- Progressive pulmonary hypertension.
– Timing: at 3-6 months of life.
(Illustrated textbook of Paediatrics, Tom Lissauer)
Prognosis
30-50% of small defects (especially muscular) close spontaneously within the
first 2-years of life
Page | 15
3 Illustrated Baby Nelson

Atrial Septal Defect (ASD)

Definition: Defect in the inter-atrial septum.

Types of ASD
R Secundum ASD
R Primum ASD (Partial atrio ventricular septal defect)
R Sinus venosus defect:
- Lies in the upper part of the septum near orifice of superior vena cava.
- Association: usually with partial anomalous pulmonary venous return

Secundum ASD Primum ASD

x The commonest type (80% of ASD) x Less common
x Lies in the middle part of the septum x Lies in the lower part of the septum
x Association x Association
May be with Holt Oram syndrome Usually associated with cleft of
(Absent radii, 1st degree heart block, mitral valve leafleto mitral
secundum ASD). regurge.

Hemodynamics
Blood is shunted from left atrium to right atrium o right ventricle oĹ
pulmonary blood flow ( more with primum ASD)
General manifestations
x Asymptomatic in most cases unless x Features of increased pulmonary
large ASDo features of increased blood flow in infancy including
pulmonary blood flow recurrent chest infections & heart
x Arrhythmias (4th decade onwards) failure.
Precordial Examination
- Usually normal (may be RVH) - Cardiomegaly with BVH
 Page | 16
2 Illustrated Baby Nelson

Auscultation
Pulmonary area Pulmonary area
Murmur of a relative pulmonary stenosis: Wide fixed splitting of S2
- Soft ejection systolic without thrill  Wide splitting due to large filling of
- With accentuated P2 right ventricle
 Fixed (does not vary with respiration)
due to constantfilling of right ventricle
in all phases of respiration

Apex Lower left sternal border

Pansystolic murmur of mitral regurge  A short, rumbling mid-diastolic murmur
propagating to axilla in Primum ASD Produced by the increased volume of
blood flow across the tricuspid valve
 Usually indicates a Pulmonary-to-
V\VWHPLFEORRGIORZUDWLR4Sௗௗ4V ratio
RIDWOHDVWௗௗ
Complications
Very rare; more common with primum ASD:
- Recurrent heart failure may occur with large defects.
- Recurrent pulmonary infections
- Infective endocarditis is extremely rare (can occur in primum defects)
- Reversal of the shunt may occur very late; in adulthood, by the 3rd - 4th decade.
Investigations
1. Chest X-ray
- Cardiomegaly with RVH & RAD.
- BVH in ostium primum defect
- Plethoric lungs (Ĺ pulmonary vascular markings)
Page | 17
3 Illustrated Baby Nelson

2. ECG:
- RVH & RAD.( BVH in primum ASD)
- Right bundle branch block is common.
3. Echocardiography is diagnostic
4. Cardiac catheter: - Pre operative/corrective intervention

Treatment
1. Medical
x Same lines as for VSD
x Infective endocarditis prophylaxis is needed only for primum ASD with
mitral regurge
2. Surgical or transcatheter device closure is advised for
x All symptomatic patients
x Asymptomatic patLHQWVZLWKD4Sௗௗ4VUDWLR
RIDWOHDVWௗௗ
x Those with right ventricular enlargement

(Chest x ray after ASD device closure, source: Radiopaedia.com)

Prognosis
40% of secundum ASD defects close in 1st four years of life spontaneously
Page | 18
2 Illustrated Baby Nelson

Patent ductus arteriosus (PDA)

Definition: Persistent fetal duct connecting the aorta & the pulmonary artery.

Connections
R The aortic end is just distal to left subclavian artery.
R Pulmonary end is at the bifurcation.
Association: Congenital rubella syndrome & prematures

Hemodynamics
R Blood is shunted from the higher pressure of aorta to
pulmonary artery o nn Pulmonary blood flow
R Run off of blood from Aorta to the pulmonary artery
mainly during diastole o lower diastolic pressure o
Hyperdynamic circulation

General Manifestations

1. Small duct 2. Big duct

R Asymptomatic ; discovered R Symptoms of increased

accidentally pulmonary blood flow (see before)
R Hyperdynamic circulation e.g. big
pulse pressure
Precordial examination Precordial examination
R Systolic thrill over the upper R Systolic thrill over the upper left
left sternal border sternal border
R Evidence of LVH
Auscultation
Left infraclavicular area
Continuous; machinery murmur (Gibson
murmur); Murmur may be systolic if the
diastolic component is masked:
1. Early in life (due to physiologically raised
pulmonary pressure) Apex
2. Very large defects (due to higher x A short, rumbling mid-diastolic murmur
pulmonary pressure) x Produced by the increased volume of blood
3. Pulmonary hypertension flow across the mitral valve in big defects
Page | 19
3 Illustrated Baby Nelson


Investigations
1. Chest X ray and ECG
x 6PDOODV\PSWRPDWLF3'$ĺBoth are normal
x Large and symptomatic PDA ĺIndistinguishable from large VSD
 Chest X-ray: Cardiomegaly and Plethoric lungs.
 ECG: ĺLeft ventricle hypertrophy with large left to right shunt
ĺRight ventricle hypertrophy with pulmonary hypertension
2. Echocardiography is readily diagnostic
Complications
- As in large VSD plus Aneurismal dilatation and rupture of the duct
Treatment
A. Medical
- Control heart failure & prevent infective endocarditis (Infective endarteritis)
- Medical closure in preterm by I.V. indomethacin in the 1st week of life .
B. Transcatheter or Surgical closure
Irrespective of age, size or symptoms ,all PDAs should be closed, preferably
before 1 yr of age.
x Small PDAs are closed x Moderate to large PDAs are closed
with intravascular coils with an umbrella-like device

Differential diagnosis of continuous murmurs:

x An aorticopulmonary window defect
x A sinus of Valsalva aneurysm that has ruptured into the right side of the heart
or pulmonary artery, Coronary arteriovenous fistulas
x Truncus arteriosus
x VSD with aortic insufficiency, and combined aortic and mitral insufficiency
(to-and-fro murmur rather than continuous nature)
Page | 20
2 Illustrated Baby Nelson

Atrio ventricular septal defect (AVSD)

(Endocardial cushion defect; ECD)

Definition
Defect in atrioventricular septum; complete defect is composed of:
1- Large ASD
2- Common & incompetent atrio ventricular valve. 
3- Large VSD.
Association: common with Down syndrome.

Manifestations
- Features of increased pulmonary blood flow and intractable heart failure
develop early in infancy.
- Evidence of cardiomegaly and hyperactive precordium (RVH mainly)
- Systolic thrill on lower left sternal border.
Auscultation
1- Lower left sternal borderoPansystolic murmur
propagating all over the precordium
2- Pulmonary areao Systolic murmur of a relative
pulmonary stenosis or pulmonary hypertension

Clinical picture is very similar to large VSD and

cases are only diagnosable by Echocardiography

Treatment
1. Medical: - As for large VSD
2. Surgical
x Because of the risk of pulmonary vascular disease developing as early as
6-12 mo of age, Early surgical repair is mandatory to avoid early
pulmonary hypertension and intractable heart failure
x Complication :surgically induced heart block requiring placement of a
permanent pacemaker
x Pulmonary artery banding is an option as a palliative surgery

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 21
3 Illustrated Baby Nelson

Coarctation of Aorta (CoA)

Constriction of the aorta to anywhere from aortic arch to aortic bifurcation.

Types
Ductal CoA: adjacent to ductus arteriosus; below origin of left subclavian artery
Preductal or postductal CoA : far uncommon
Association: Turner syndrome, Bicuspid aortic valve

1. Hypertension proximal to the

CoA (head
 & upper limbs)

2. Collaterals
develop between
the proximal &
distal aortae

3. Hypotension distal to the CoA

(lower body & lower limbs)

4. In severe coarctation , blood is shunted from the pulmonary artery

to the descending aorta via a patent arterial ductus with subsequent:
x Perfusion of the lower body is dependent on the patent
ductus(duct dependent systemic flow)
x May be differential cyanosis (lower limbs blue, upper limbs
pink).
Clinical Picture
1. Severe coarctation
R Usually no symptoms are apparent at birth, but can develop within a week of
birth with the closure of the ductus arteriosus
R Presentation: poor feeding, congestive heart failure, cardiomegaly and
acidosis
2. Milder cases: Usually asymptomatic; may present in older child or adult with:
x Pulse
 Bounding in upper limbs and carotids , weak or absent in lower limbs
 Femoral pulse is delayed than radial pulse (unlike normal).
x Blood pressure :Higher in upper limbs than lower limb(unlike normal)
The upper-to-lower extremity pressure gradient will increase with exercise

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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2 Illustrated Baby Nelson

x Murmur
R Systolic murmur with ejection click
R Over the base of the heart
R Transmitted to the left infrascapular area

In older patients with well-

developed collaterals:
A continuous murmur may
be heard over chest laterally
and posteriorly

3. Complicated cases: May present with:

* Systemic hypertension due to renal hypoperfusion.
* Intracranial hemorrhage due to hypertension or associated aneurysm of circle of
Willis.
Investigations
1- Chest X-ray:
x Cardiomegaly ( LVH )
x Notching of the inferior border of the ribs from
pressure erosion by enlarged collaterals is
common by late childhood(Rosler sign)

2- ECG: - LVH in older patients

3- Echocardiography is Diagnostic
4- When echocardiogram is equivocal: cardiac CT ,
MRI and catheter are alternative diagnostics

Treatment
1. In neonates with severe coarctation of the aorta
 Infusion of prostaglandin E1 to reopen the ductus and re-establish
adequate lower extremity blood flow.
 Once a diagnosis has been confirmed and the patient is stabilized, surgical
repair should be performed
2. Older cases require:
 Control of hypertension and prophylaxis against infective endocarditis.
 Surgical repair

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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3 Illustrated Baby Nelson

Cyanotic Congenital Heart Disease (CCHD)

Classification

CCHD with decreased pulmonary CCHD with increased pulmonary

blood flow blood flow
With RVH With RVH
- Fallot tetralogy - Transposition of great arteries (TGA)
- Pulmonary atresia with VSD - Total anomalous pulmonary venous return
With LVH - Eisenmenger Syndrome
- Tricusped atresia With BVH
- Ebstein anomaly - Truncus arteriosus
- Pulmonary atresia with VSD - Single ventricle
Criteria
- Hypercyanotic spells (attacks of - Poor feeding “dyspnea on suckling”.
increasing cyanosis) - Recurrent chest infections is common
- Heart failure is very rare - Recurrent heart failure is common
- P2 (pulmonary component of S2) o p - P2 o n
- Chest X-ray o lung oligaemia - Chest X-ray o plethora.

- Growth retardation occurs in long standing, symptomatic, uncorrected lesions.

Central cyanosis
Definition
Bluish discoloration of skin and mucous membranes due to presence of > 5 gm /ml
reduced hemoglobin in the capillary blood.
Causes
1. Congenital heart diseases are the main cause of chronic central cyanosis
- The commonest cyanotic congenital heart disease is Fallot tetralogy.
- The commonest cyanotic congenital heart disease presenting at birth is TGA.
2. Respiratory failure (usually acute cyanosis)
Presentation
- Early it may be overlooked and become evident only during crying and feeding
- Then it becomes apparent at rest; noted mainly in inner lips and tongue
Consequences
- Cyanotic clubbing, dusky blue skin, gray sclerae with engorged blood vessels
- Polycythemia
- Increased risk of Relative iron deficiency and Cerebral stroke

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
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2 Illustrated Baby Nelson


CCHD with decreased pulmonary blood flow

Fallot Tetralogy
Definition
Commonest cyanotic congenital heart disease with decreased pulmonary blood
flow ; Composed of


Aortic dextroposition
 Aorta overrides the
ventricular septal defect
 Receives mixed blood
Pulmonary stenosis
Mainly infundibular
(muscular) but may be
valvular VSD
 Usually large
Right ventricle hypertrophy  Lies just below the
 Usually mild RVH aortic valve
 Due to right ventricle
out flow obstruction

Hemodynamics
A. Degree of pulmonary stenosis (PS) determines degree of right to left shunt:
1. Severe PS
R Early right to left shunt o cyanosis appear in the neonatal period
R Pulmonary blood flow is mainly dependent on flow through the ductus
arteriosus
R When the ductus begins to close in the 1st few hours or days of life,
severe cyanosis and circulatory collapse may occur
2. Mild to moderate PS
Patient is initially pink; over time, pulmonary stenosis gradually
increases o right to left shunting o cyanosis appear within months
B. Pulmonary blood flow is maintained
R In neonate via ductus arteriosus
R In older child via Multiple aortopulmonary collateral arteries arising
from the ascending and descending aorta

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
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3 Illustrated Baby Nelson

Clinical picture
1. Central Cyanosis
R Often, cyanosis is not present at birth; but with
increasing hypertrophy of the right ventricular
infundibulum as the patient grows, cyanosis occurs
later in the 1st yearr of life
R Infants with severe degrees of PS, neonatal
cyanosis is noted immediately
R Infants with mild degrees of PS may initially be
seen with heart failure caused by a ventricular-level
left-to-right shunt
R Cases who aren’t initially visibly cyanotic are
termed Acyanotic or pink Fallot .
2. Cyanotic Clubbing of fingers and toes
3. Growth retardation (Stunting) in unrepaired cases
4. Squatting position
R Older children ,with significant cyanosis at rest, have
dyspnea on exertion
R After physical effort o dyspnea increases o the child
assumes squatting position for the relief of dyspnea
R Theory: Squatting okink of femoral arteries on systemic
vascular resistance on aortic pressure on pulmonary blood
flow on blood oxygenation.
5. Paroxysmal hypercyanotic Spells (Hypoxic, “blue,” or “tet” spells)
Incidence
Mainly in the 1st 2 years of life; triggered by crying, feeding or infection
Mechanism
Infundibular spasm o reduction of an already reduced pulmonary blood
flowo if prolongedo severe systemic hypoxia and metabolic acidosis
Clinically
Increasing cyanosis

Respiratory distress Irritability and restless

Decreasing murmur intensity

 Spell lasts from a few minutes to a few hours

 Severe spell may lead to convulsions, cerebrovascular stroke or even death

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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2 Illustrated Baby Nelson

6. Cardiac examination
Precordial
- Normal heart size (may be mild RVH)
- Systolic thrill over left sternal border.
Auscultation
- S2: single (A2 only is heard)
- Murmur: systolic (organic PS) on the upper and mid left sternal border.
Investigations
1. Chest X-ray
Coeur en sabot or boot
shaped heart
Narrow base
Oligaemic lung  Exaggerated waist
fields  Rounded uplifted apex
- Heart size is normal or
mild RVH

2. Echocardiography
Two-dimensional
Echo is Diagnostic

3. Others
- ECG shows RVH
- Catheter o Pre-operative
- CBC show polycythemia
Complications
Early corrective surgery in infancy made it rare
1. Polycythaemia due to
R Hypoxemia o n erythropiotine o polycythaemia
R Relative iron deficiency increase polycythaemia
2. Cerebral thrombosis due to:
R Extreme polycythemia o sluggish blood flow
R Microcytosis due to relative iron deficiency origid
non deformable RBCs
3. Brain abscess due to septic emboli and lack of pulmonary
filtration

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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3 Illustrated Baby Nelson

4. Pulmonary tuberculosis 6. Heart failure is rare; may

due to pulmonary be iatrogenic with big
oligaemia shunt

5. Infective endocarditis  7. Associated anomalies e.g.

DiGeorge syndrome or
CATCH 22 (cardiac
defects, abnormal facies,
thymic hypoplasia, cleft
palate, hypocalcemia).

Treatment
1. Medical
A. Treatment of hypoxic spells (in sequence)
R Don’t Panic
R Calm and hold the infant in Knee-chest (frog) position
± pressure to femoral pulses.
R Facial oxygen (if not distressing the child)
R Avoid premature attempts to obtain blood samples to
avoid further agitation

R Morphine 0.1mg/kg SC/IM/IV

 Suppress the respiratory center
 Caution in infants less than 3 months of age
R Fluid bolus 10ml/kg of NaCl 0.9% or Colloid IV
R Sodium bicarbonate 1mEq/kg IV (= 1ml/kg of 8.4%)
R Improve right ventricle out flow and reduce right to left shunt by either:
i. Propranolol 0.1mg/kg IV over 5 minutes.
 Value : Reduces infundibular spasm
 Contraindicated if already on maximal dose of oral beta blockers.
OR
ii. Phenylephrine 5-10mcg/kg (slow IV push)
 Value: Increases systemic vascular resistance

R PICU Intervention : Intubation and ventilation for spells resistant to the

above management

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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2 Illustrated Baby Nelson

x After the spell is over:

 Oral propranolol prophylaxis 0.5-1 mg/kg/6hours
 Avoid digitalis as it may induce infundibular spasm
 Arrange for surgery
B. Avoid cerebral thrombosis by
x Treatment of relative iron deficiency
x For severe polycythemia
 Adequate hydration
 Phlebotomy
 Partial exchange transfusion with albumin or saline.
C. Prophylaxis & treatment of infective endocarditis.

2. Surgical
Indicated as soon as the spells begin
A. Palliative shunts
* Idea: Anastomosis between aorta and pulmonary artery to allow n pulmonary
blood flow
* Modified Blalock Taussig operation:
Anastomosis between subclavian artery & ipsilateral pulmonary artery using
Gore Tex conduit (Potts and Waterston operations are obsolete)

B. Total repair:
Can be done between 4 months to 2 years according to severity and available
cardiac center

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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3 Illustrated Baby Nelson

Other causes of CCHD with decreased pulmonary blood flow

ƒ All are Fallot tet. like in clinical presentation and management
ƒ Differentiated from Fallot tet by Echocardiography and diagnostic catheter

Ebstein's Anomaly
Composed of
 Huge right atrium
 Downward displacement of tricusped valve leaflets.
 Tricusped regurge is common.
 Small right ventricle
Clinically
ƒ May be asymptomatic
ƒ Splitting of S1 and S2
ƒ May be
 Mild cyanosis
 Atrial arrythmias
 Pansystolic murmer (tricusped regurge)
ƒ May be heart failure.
ƒ Chest X-ray: May be huge cardiomegaly in.

ƒ ECG o Right bundle branch block (RBBB) and RAD

ƒ Echocardiography and color Doppler : diagnostic

RV

Huge
RA

LV
RV

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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3. Pulmonary atresia 4. Tricusped atresia

With VSD Without VSD

x Blood in right. ventricle pass to left

ventricle via VSD so, Left ventricle x Blood in right atrium pass via patent x Atretic tricusped valve o Blood in right atrium pass
contain mixed Blood o cyanosis. foramen ovale (PFO) o left atrium via PFO o left atrium o left ventricle o cyanosis.
x Pulmonary blood flow depends on PDA o left ventricle o cyanosis. x Pulmonary blood flow is dependent on VSD or PDA.
or collaterals between Aorta & x PFO & PDA are essential for life. x Right ventricle is hypoplastic.
pulmonary artery.
Presentation
- Cyanosis is evident at birth o increase in intensity with ductus arteriosus closure.
- Single second heart sound (only A2 is heard).

- No murmurs. (may be machinery of PDA or collaterals). - Murmur of VSD (± PDA).

Diagnosis
- Echocardiography can differentiate it from Fallot tetralogy.
Treatment
- Once suspected after birth: PGE1 infusion to keep the ductus open
- Operative: Palliative shunts/ Total correction
- Medical: measures for polycythemia and infective endocarditis(as before)
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3 Illustrated Baby Nelson

CCHD with increased pulmonary blood flow

1. Transposition of Great arteries (TGA)
Description

3. Mixing of blood
occur via PFO, 2. Pulmonary artery arise
VSD or PDA from left ventricle
1. Aorta arise from
right ventricle

Incidence: Common in infant of diabetic mother.

Types: - Isolated TGA

- TGA With VSD
- TGA With VSD and pulmonary stenosis
- Corrected TGA
Isolated (intact ventricular septum) TGA With VSD

Medical emergency
* Severe cyanosis at birth - Milder cyanosis
* With ductus closure o marked cyanosis with - Manifestations of increased
acidosis and hypoglycemia pulmonary blood flow
* No murmur - VSD murmur.
* Single accentuated S2 (anteriorly placed aorta)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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2 Illustrated Baby Nelson

Investigations
 Chest x ray
 Cardiomegaly (egg on side)
 Plethoric lung

 ECG: RVH.
 Echo.: Diagnostic
 Cardiac catheter: Preoperative
Treatment
1- Maintain PDA o PGE1 infusion & avoid O2. - Treatment of heart
2- Palliative operation: Rashkind balloon atrial failure (3D).
septostomy o create large ASD o free intra
cardiac mixing.
3- Total correction: either
- Arterial switch operation (anatomical - Arterial switch operation
correction)
- Atrial switch operation.
4- Other lines of treatment: - Avoid cerebral thrombosis (see Fallot tet)
- Precautions against infective endocarditis

2. Total anomalous pulmonary venous return (TAPVR)

x Pulmonary veins drain into right side of the heart either:
- In superior vena cava ( supra cardiac)
- In coronary sinus (cardiac)
- In inferior vena cava (infra cardiac)
x ASD allow blood in right atrium to pass to left atrium
o blood mixing o cyanosis.

x Chest X-ray
Snowman in snowstorm or
Figure 8 shaped heart.
x Echo is diagnostic

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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3 Illustrated Baby Nelson

3. Truncus arteriosus (TA)

Description

2. One semilunar valve

1. One arterial trunk leave (Truncal valve)
the heart giving rise to
both aorta & pulmonary 3. Large VSD below the
artery trunk
Types

Type I Type II Type III Type IV

“pseudo truncus”

Single pulmonary Two pulmonary Two pulmonary Arteries arising

artery from left. arteries from the arteries from the from the
Side posterior wall lateral wall descending aorta o
supply the lungs.
Clinical picture
- Cyanosis o variable onset (usually minimal esp. in neonate & infants).
- Features of increased pulmonary blood flow
- S2 o single.
- VSD murmur.
- Chest X-ray o Right sided aortic arch in 50% of cases.
Treatment
1. Treatment of heart failure.
2. Surgical correction.
4. Single ventricle

- Absent interventricular septum o both Aorta & pulmonary artery arise from
common ventricle o free mixing of blood o cyanosis.
- Degree of cyanosis depends on whether pulmonary valve is stenotic or not which
determine pulmonary blood flow.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
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2 Illustrated Baby Nelson


Valvular lesions
1. Mitral Stenosis (MS)
Causes
1- Rheumatic (mainly)
2- Congenital (rarely)
Hemodynamics
R MS o Blood accumulate in left atrium o left atrial dilatation
o pulmonary congestion and pulmonary congestive symptoms
R Prolonged pulmonary congestion o pulmonary hypertension with low cardiac
output symptoms
R Prolonged pulmonary hypertension oRight ventricular hypertrophy & right
ventricle failureo systemic congestive symptoms
Symptoms
x Mild cases may be asymptomatic ; discovered accidentally
x Pulmonary venous congestive manifestations with or without systemic venous
congestive manifestations.
Precordial examination
1. Weak apex beat; Slapping apex due to palpable first heart sound.
2. Pulmonary pulsation (palpable second heart sound) and dull pulmonary area in
cases with pulmonary hypertension.
Auscultation
Pulmonary area (in cases with
pulmonary hypertension):
- Accentuated S2.
- Ejection systolic murmur

Apex
 Accentuated S1
 Opening snap
 Murmur: localized mid diastolic rumbling
with pre systolic accentuation

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
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3 Illustrated Baby Nelson

Complications
* Valve - Rheumatic activity
- Bacterial endocarditis
- Calcification
* Left atrium - Dilatationo compression manifestations
- Dysrhythmias
- Intra atrial thrombi
* Ventricle - Right ventricular failure

2. Aortic Regurge (AR)

Causes
1- Rheumatic (mainly)
2- Syphilitic, Marfan syndrome or post-operative (rare).
Hemodynamics
1- Incompetent aortic valve o In diastole blood returns to the heart leading to:
- Decreased diastolic pressure.
- Large end diastolic volume of left ventricle o increased systolic
pressure.
2- High systolic pressure and low diastolic pressure result in hyperdynamic
circulation.
Symptoms
1- Manifestations of low cardiac output.
2- Palpitation with exertion.
General examination: (peripheral signs suggesting A.R.)
1. Corrigan sign = visible arterial pulsations in carotid arteries.
2. De Musset sign = head nodding with each heartbeat.
3. Wide pulse pressure.
4. Water hammer pulse.
5. Capillary pulsations (in nail beds and lips).
6. Hill’s sign: Lower limb’s systolic pressure is higher than upper limb by > 20
mmHg.
7. Pistol shot due to push of blood in an empty artery.
8. Duroisier sign: diastolic murmur on pressing femoral artery by distal edge of
stethoscope.
Precordial examination
- Hyper dynamic apex (forcible, non-sustained).
- Left ventricular enlargement (LVH).

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
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2 Illustrated Baby Nelson

Auscultation
Aortic area
1. Early diastolic murmur
R On the 1st & 2nd aortic areas
R Increases by leaning forward & in expiration
R Propagates to the apex
2. May be ejection systolic murmur due to functional aortic stenosis

3. Mitral regurge (MR)

Causes
1- Rheumatic (mainly)
2- Congenital (rarely)
3- Mitral valve prolapse
Hemodynamics
1- Incompetent mitral valve o in systole blood returns to the left atrium o left
atrial dilatation and pulmonary congestion o pulmonary hypertension.
2- Large end diastolic volume of left ventricle o left ventricle enlargement.
Symptoms
- May be asymptomatic in early cases
- Palpitation with exertion.
- Pulmonary venous congestive manifestations.
Precordial examination
- Hyper dynamic apex. (forcible, non-sustained).
- Left ventricular enlargement (LVH).
- May be apical systolic thrill.
- May be evidence of pulmonary hypertension(dull, pulsating pulmonary area)

Auscultation
1. Apex
- Muffled S1.
- Murmur o Pansystolic.
o Propagates to the axilla

2. Pulmonary area
In cases with pulmonary hypertension:
- Accentuated S2.
- Ejection systolic murmur.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Aortic stenosis (AS)

Causes
1. Rheumatic 2. Congenital
Valvular stenosis a. Valvular: bicusped aortic valve
- The commonest b. Subvalvular: a membrane or septal hyperterophy
- About 70% (hypertrophic obstructive cardiomyopathy
c. Supravalvular (With Williams syndrome : Elfin facies,
hypercalcemia, Cocktail party chatter).
Hemodynamics
- Left ventricle outflow obstruction
o Low cardiac output.
o Left ventricle hypertrophy & left ventricle failure.
Symptoms
1. Critical stenosis can present early in life with heart failure
2. Milder cases
 May be asymptomatic
 Manifestations of low cardiac output in older child.
 Manifestations of complications
Precordial examination
- Heaving apex (forcible, sustained).
- Left ventricular enlargement (LVH).
- Systolic thrill over aortic area and the neck.
Auscultation
Aortic area: - Muffled, delayed aortic component of S2.
- Murmur o Harsh ejection systolic murmur
o Best heard on 1st aortic area
o Propagate to the neck & the apex.
Complications
1. Left ventricular failure
2. Bacterial endocarditis
3. Sudden cardiac death
Treatment
R Medical
- Exercise restriction for severe stenosis
- Prophylaxis against endocarditis
- Avoid vasodilators
R Interventional / surgical (Balloon valvoplasty or valvotomy or valve replacement)
For: Symptomatic cases and/ or Pressure gradient across the valve > 40mmHg

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Pulmonary stenosis (PS)

Causes
- Congenital mainly.
Symptoms
1- Asymptomatic in mild cases
2- Severe obstructive lesions can present early in life with heart failure.
3- Manifestations of low cardiac output in older child.
Precordial examination
- Right ventricular enlargement (RVH).
- Systolic thrill over pulmonary area.
Auscultation
Pulmonary area
Muffled pulmonary component of S2.
Murmur o Ejection systolic on pulmonary area propagate to the left
parasternal area.
Investigations of valvular lesions
Investigations Value
Chest x ray - Detect cardiomegaly
- Pulmonary vascular markings:
- Oligemic in pulmonary stenosis
- Prominent in left sided failure
- Specific configuration
ECG - Detect chamber enlargement
- Myocardial ischemia
Echocardiography - Diagnostic ; see before
Catheterization - Diagnostic ; done pre-operative
- Interventional

Treatment of valvular lesions

A. Medical
1. Afterload reducers e.g. captopril for regurgitant lesions.
2. Exercise restriction for severe stenotic lesions.
3. Treat complications:
- Heart failure
- Infective endocarditis.
- Arrythmias

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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4- Prophylaxis against
- Infective endocarditis.
- Rheumatic fever (in rheumatic cases).

B. Interventional
Balloon valvoplasty for symptomatic, non-calcific, stenotic lesions e.g.
- AS
- PS
- MS

C. Surgical
1- Valvotomy for stenosis
2- Valve repair for regurge
3- Valve replacement.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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2 Illustrated Baby Nelson

Acute Rheumatic Fever (ARF)

Definition
Immunologic disease affecting mainly the heart and joints& less frequently central
nervous system, skin and subcutaneous tissue
Risk factors
R Peak of onset between 5-15 year (rare before 5 years)
R Genetic predisposition
R Moderate and High risk populations : Developing countries
R Low risk populations : USA, Canada, western Europe
Pathogenesis
Group A Streptococcal (GAS) pharyngitis (M serotypes 1, 3, 5, 6,18, 24)

Antibodies formed against Streptococcal infection alter

streptococcal cross react host connective tissue
against host connective tissue antigenicity

Inflammation

Proliferative with Aschoff Exudative (in joints) with

nodules as in the heart and inflammatory edema o
subcutaneous nodules resolve without residual

Valvulitis due to endocardial inflammation may destroy

valves resulting in valve regurge (in acute stage) OR end up
in valve fibrosis and stenosis OR a mix of both

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Clinical Picture
A latent period of 1-3 weeks usually exist between pharyngitis and clinical
symptoms of acute rheumatic fever

Major Criteria of Rheumatic Fever

1. Arthritis
R The commonest presenting sign 75%
R Distribution
 Usually affect big joints (e.g. knee, ankles, wrist, elbow).
 Polyarticular arthritis; either simultaneous or successive.
 Migratory arthitis oFleet form one joint to another.
R Joint examination
 Inspectiono Red ,hot ,swollen (inflamed)
 Passive movementoSeverely tender
 Active movemento Absolute limitation of movement
R Course :
 Dramatic response to salicylates within 48 hours.
 Resolve without residuals, even without treatment, over one week.
R Arthritis now refers to polyarthritis in low-risk populations, but to monoarthritis or
polyarthralgia in moderate/high-risk populations
2. Carditis
R The 2nd common(50%) and most serious manifestation of ARF
R Pancarditiso inflammation of endocarium,myocardium and pericardium
R Carditis may be silent or late onset appearing after 6 weeks – 6 months
R Carditis is now defined as clinical and/or subclinical (echocardiographic valvulitis)
i. Endocarditis: Valvulitis
Affect commonly the mitral valve with or without aortic valve:
a. Mitral valve
 Valve edema o transient mitral stenosis o mid diastolic rumbling
murmur (Carey Combs murmur)
 Valve destruction o mitral regurge o apical holosystolic murmur
propagating to the axilla with muffled 1st heart sound.
b. Aortic valve
 Aortic regurgeo left sternal border
early diastolic murmur.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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2. Myocarditis
R Tachycardia out of proportion to age & fever(rarely bradycardia due to heart
block)
R Heart failure indicates severe carditis with
 Marked dyspnea
 Enlarged tender liver
 Gallop rhythm, muffled heart sounds
 Cardiomegaly

3. Pericarditis

a. Dry pericarditis b. Pericardial effusion

 Stitching chest pain  Dull aching pain.
 Pericardial rub (on the bare area of  Distant heart sounds.
the heart, unrelated to respiration).

Investigations for carditis

ƒ ECG may show Low voltage ECG in pericardial effusion.
ƒ Chest x ray may show cardiomegaly
ƒ Echocardiographic findings include mitral and/or aortic regurgitation,
pericardial effusion, and decreased ventricular contractility

3. Rheumatic chorea “Sydnham Chorea” (10%)

Incidence
 More in girls 8-12 years (school age).
 Occur weeks or months after pharyngitis so, other criteria are usually
lacking.
 May coexist with other rheumatic fever manifestations in 10%
Due to: Dysfunction of the basal ganglia.
Manifestations
1. Emotional lability and personality changes
2. Involuntary movements
 Sudden ,jerky ,spontaneous pseudo purposeful movements of limbs
 Facial grimace.
 Distribution: Proximal more than distal.
 Increase with emotional stress and decrease by sleep.
3. Hypotonia

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Tests for rheumatic chorea

 Cannot maintain arms extended o spooning &
pronation of hands (Choreic hand).
 Milk maid’s grip: irregular contraction &
relaxations on squeezing examiner hand
 Wormian movements of tongue upon protrusion
(Darting tongue).
 Examination of handwriting to evaluate fine motor
movements
Outcome
 Self-limited ; usually resolve within 4-8 weeks
 Acute phase reactant are usually normal in isolated chorea

4. Erythema Marginatum (< 5%)

Site
 The trunk
 Proximal parts of the limbs
Criteria
 Large erythematous macules.
 With pale centers and serpiginous borders( map like
appearance)
 Evanescent.(may come and go for several months)
 Not pruritic

5. Subcutaneous Nodules (< 1%)

Appear several weeks after the attack
Site
 Over the extensor surfaces of tendons near
bony prominences.
Criteria
 Size is about 1 cm.
 Firm, freely mobile,and painless.
 Usually associated with severe carditis.

N.B: Both sub cutaneous nodules and erythema marginatum are rare in Egypt

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Minor criteria of Rheumatic Fever

A. Clinical
1. Fever: of > 38° C (>38.5° C in Low-Risk populations)
2. Arthralgia
 Moderate/High-Risk populations only include monoarthralgia
(polyarthralgia for Low-Risk populations)
 Can’t be used as minor manifestation in presence of arthritis
B. Investigations
1. ECG: Prolonged P-R interval
 Can’t be used as minor manifestation in presence carditis
2. Elevated acute phase reactants
- n ESR; >30 mm/hr (>60 mm/hr in Low-Risk populations).
- n C reactive protein

Evidence of recent Group A Streptococcal (GAS) infection

ƒ Positive throat culture Or

ƒ Elevated or increasing streptococcal antibody titers : ASO , Anti
Deoxyribonuclase (DNase) E , Anti hyaluronidase

American heart association’s revised Jones criteria (2015)

ƒ For diagnosis of initial attack of ARF
 2 major manifestations, Or
 1 major and 2 minor manifestations
Plus
 Evidence of recent GAS infection
ƒ For diagnosis of recurrent attacks of ARF
 2 major, Or
 1 major and 2 minor, Or
 3 minor manifestations (only in the Moderate/High-Risk
population)
Plus
 Evidence of recent GAS infection
ƒ Carditis Redefinition (see before)
ƒ Arthritis Redefinition (see before)
ƒ Minor criteria Redefinition (see before)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Notes on Jones criteria

There are 3 circumstances in which the diagnosis of acute rheumatic fever can be
made without strict adherence to the Jones criteria:
 When chorea occurs as the only major manifestation of acute rheumatic
fever
 When indolent carditis is the only manifestation
 Patients with recurrences of acute rheumatic fever in particularly high-risk
populations.
Prognosis and complications
1. Arthritis sub side within days to weeks even without treatment.
2. Chorea subsides within few months without residuals.
3. Only carditis can cause permanent damage especially in recurrences which :
* Suggested by: - Appearance of new murmurs.
- Change in character of already existing murmur
* Result in organic valve lesion e.g. MS,MR, AS, and/or combined valve lesion.
* Carditis and chronic valve lesions may be complicated by:
- Heart failure - Arrhythmias
- Infective endocarditis - Pulmonary hypertension
- Embolic manifestations
Differential diagnosis
1. Other causes of arthritis
R Post streptococcal arthritis
 May follow infection with either group A or group G streptococcus
 Typically oligoarticular, affecting lower extremity joints, and mild
symptoms can persists for months
 Some clinicians consider it to be an incomplete form of acute
rheumatic fever
R Transient synovitis (toxic synovitis)
 Post-infectious arthritis, typically affects the hip, often after an upper
respiratory tract infection
 Acute onset of severe pain in the hip, with referred pain to the thigh or
knee, lasting approximately 1 wk
R Rheumatoid arthritis:
 Chronic deforming arthritis; last •6 weeks.
 Non migratory
 Some involve small peripheral joints.
 Absent dramatic response to salicylates within 48 hours.
 Associations e.g. Spiking fevers, lymphadenopathy, and splenomegaly

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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2 Illustrated Baby Nelson

R Reactive arthritis related to gastrointestinal infections (e.g., Shigella,

Salmonella, Yersinia)
R Septic arthritis (usually monoarthritis )
R Serum sickness
R Hematologic e.g. Sickle cell disease, Acute leukemia , hemophelia.
R Immunologic e.g. Systemic lupus erythematosis& anaphylacteod purpura
2. Other causes of carditis e.g.
ƒ Vial carditis
ƒ Infective endocarditis
ƒ Drug induced.
3. Other causes of chorea e.g
ƒ Wilson disease
ƒ Cerebral palsy
Treatment of Acute Rheumatic Fever
A. Treatment of Acute Attack
1. Eradicate group A Streptoccoci from the upper respiratory tract
 Oral penicillin or erythromycin for 10 days or a single intramuscular
injection of benzathine penicillin
 Long-term antibiotic prophylaxis after this initial course of antibiotic therapy
2. Typical migratory Arthritis
1. Bed rest for 2 weeks
2. Anti-inflammatory drug: Salicylates

50-70 mg/kg 50 mg/kg

- Dose: 50-70 mg/kg/day (max = 6 gram /day) For 3-5 days

- Then 50 mg/kg/d for 3 weeks.
- Then gradual withdrawal monitored by decline in ESR & CRP
- Side effects: Gastritis, GI bleeding(R/Gastriprotection),Reye syndrome
3. Daily examination is vital to pick carditis that can present within 2 weeks of
the onset

3. Carditis
1. Bed rest
- For cases with severe carditis and heart failure
- Rest for 3 months and gradual ambulation
for a similar period

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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2. Anti-inflammatory drugs
a. Corticosteroids (Prednisone)
* Indications:
- Moderate to severe carditis(with cardiomegaly)
- Heart failure.
* Dose

2 mg/kg
1 mg/kg Salicylates 50 mg/kg

ƒ 2 mg/kg/d for 2-3 weeks

 Followed by half the dose for 2-3 wk
 And then tapering of the dose by 5 mg/24 hr every 2-3 days
ƒ At the beginning of tapering; salicylates is started at dose of 50
mg/kg/d and continued for 6 weeks to avoid rebound phenomenon.

b. Salicylates can be used in mild carditis without cardiomegaly nor heart

failure
3. Heart failure with respiratory distress
a. Oxygen inhalation
b. Restriction of salt and fluid intake.
c. Steroids
d. Other anti-failure drugs:
- Diuretic: Furosemide 1mg/kg every 6-12 hours
- VasoDilators: e.g. captopril
- Digoxin: used cautiously; begin with half the usual recommended dose
(Nelson Textbook of Pediatrics, 2016)

R Anti-inflammatory agents (e.g., salicylates, corticosteroids) should be withheld if arthralgia

or atypical arthritis is the only clinical manifestation of presumed acute rheumatic fever.
R Premature treatment with one of these agents may interfere with the development of the
characteristic migratory polyarthritis and thus obscure the diagnosis of acute rheumatic
fever.
R Acetaminophen can be used to control pain and fever while the patient is being observed for
more definite signs of acute rheumatic fever or for evidence of another disease
(Nelson Textbook of Pediatrics)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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4. Treatment of Rheumatic Chorea

R Avoid emotional stress.
R Control abnormal movements:
- Phenobarbitone 16-32 mg / 8 hours oral Or
- Haloperidole (Safinase tablet) 0.01-0.03 mg/kg.
R Long acting penicillin prophylaxis.
5. Treatment of complications
- Treatment of heart failure; see before.
- Treatment of infective endocarditis
- Treatment of valve lesions

B. Prophylactic
1. Primary prevention: prevent 1st attack by:
- Hygienic housing.
- Proper treatment of Strept. infection: penicillin or erythromycin for 10 days.
2. Secondary prevention : Prevent recurrence of Rheumatic fever by:
R Long acting penicillin (Benzathine penicillin)
R Dose : 600.000 units for those < 27 kg and 1.2 million unit for those > 27 kg
R Route: Single injection, I.M every 3-4 weeks.
R Alternatives: Oral penicillin V or Macrolide (Erythromycin)
R Duration
Rheumatic fever category Duration
 Without carditis  5 yr or until 21 yr of age, whichever is
longer
 With carditis but without  10 yr or until 21 yr of age, whichever
residuals is longer
 With carditis and residual  10 yr or until 40 yr of age, whichever
heart disease is longer
 Sometimes lifelong prophylaxis
(Nelson Textbook of Pediatrics, 2016)

3. Infective Endocarditis (IE) prophylaxis

ƒ American heart association (AHA) no longer recommends routine IE
prophylaxis for rheumatic heart diseases
ƒ Prophylaxis is still recommended only for those with prosthetic valves or
prosthetic material used in valve repair (use antibiotic other than penicillin)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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3 Illustrated Baby Nelson

Infective endocarditis

Definition
 Infection of the valvular & mural endocardium
 Infection can be bacterial, viral, or fungal
Pathogenesis
Two factors are essential
1. Presence of cardiac structural abnormality with significant pressure gradient
2. Bacteremia; even transient
Commonest causative organisms
1. Streptococcus viridans (50%):
 Follows dental surgery ,dental caries, tonsillectomy, dental extraction
2. Staphylococcus aureus and epidermidis
 Mainly postoperative
 Risk is high with prosthetic valve and central venous catheter
3. Group D enterococci
 More often after lower bowel or genitourinary procedures
4. HACEK group : Haemophilus, Actinobacillus, Cardiobacterium, Eikenella, and
Kingella species
4. Pseudomonas aeruginosa or Serratia marcescens
 Seen more frequent in intravenous drug users
5. Fungal: Seen more frequent in immunodeficient & post open heart surgery.
Pathology
Implantation of the organism in the
diseased endocardium o Local
inflammation & formation of friable
vegetations composed of platelets, fibrin,
inflammatory cells, and organisms

Clinical picture
A. History: Suggestive of a risk factor or bacteremia
B. General manifestations
1. Fever (pyrexia)
2. Poor appetite o weight loss & malaise.
3. Palpable spleen (tender splenomegaly)
4. Pale clubbing
5. Pallor
6. Purpura

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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2 Illustrated Baby Nelson

7. Rare manifestations due to immune complexes induced vasculitis:

Osler nodules Janeway macules Splinter hemorrhage
 Transient tender nodules  Irregular, painless  Linear hemorrhagic
 Pea-sized macules streaks
 Intradermal
- in the pads of the  In palms and soles  Beneath the nails
fingers and toes

B. Cardiac manifestations
 Appearance of new murmurs
 Change in the character of previous murmurs
 Sea gull murmur (musical) o due to rupture of valve leaflets.
 Heart failure or arrhythmias.
C. Embolic manifestations
1. Neurologic
- Embolic stroke (seizures, hemiparesis)
- Cerebral abscess
- Mycotic aneurysm o intracranial hemorrhage

2. Pulmonary embolism 3. Retinal hemorrhages;

(Roth spots = oval with pale
centers), blindness

4. Renal infarction o 5. Skin infarcts and

hematuria & renal failure gangrene

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Investigations
A. For diagnosis
1. Blood culture
 3-5 blood samples before the start of antibiotics (contact the lab staff !!!)
 The causative agent is recovered from the 1st 2 blood cultures in 90% of cases
2. Echocardiography: transthoracic and transesophageal
Value
 Detects vegetations (early & minute vegetation < 3 mm3 may be missed)
 May predict embolization (fungating vegetation > 1 cm3).
 Detects underlying cardiac lesions
 Detects complication e.g. valve dysfunction or leak , myocardial abscess
3. Culture of other specimens may include scrapings from skin lesions, urine,
synovial fluid, abscesses, and, CSF in case of meningitis
4. With unusual microorganisms
 PCR of surgical material e.g. resected valve tissues
 Specific serology
B. For monitoring/effect
1. Acute phase reactant (ESR, CRP, Procalcitonin and Leucocytosis)
2. Complete blood count: for anemia of chronic illness
3. Renal function tests, urinalysis
Prevention
A. Oral and dental care;the important 
B. Antibiotic prophylaxis; Required for cases with:

1. Prosthetic cardiac valve 3. Congenital heart disease

or prosthetic material used (except ASD)
for cardiac valve repair 4. Repaired Congenital heart disease
with prosthetic material or device
5. Palliative shunts and conduits

2. Previous infective endocarditis  6. Permanently damaged valves

due to Rheumatic heart disease

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Procedures requiring prophylaxis ?

R Dental /oral
R Invasive respiratory tract procedures
R Cardiac surgery/catheterization

x Prophylaxis for gastrointestinal or genitourinary procedures is no

longer recommended in the majority of cases
x Direct consultation with the child’s cardiologist is still the best method
for determining a specific patient’s ongoing need for prophylaxis

Prophylactic antibiotics
R Oral amoxicillin (50 mg/kg) or Ampicillin Or
R Ceftriaxone (50 mg/kg) IM or IV Or
R If penicillin allergic: Azithromycin or clindamycin
3. Vigorous treatment of sepsis and local infections
Treatment
Medical
1- Hospitalization, Bed rest and treat heart failure
2- Antibiotic therapy
 Start immediate parenteral antibiotic combinations while waiting for
culture results.
 For 4-6 weeks ( modify in view of clinical and laboratory response)
 Best empirical therapy in patients without a prosthetic valve is
vancomycin plus gentamicin
 Other antibiotics include crystalline penicillin G, ceftriaxone, nafcillin
or oxacillin.
 Amphotricin B and 5 florocytosine for fungal endocarditis.
Surgical
x Removal of vegetation with or without valve replacement
x Indications
 Treatment failure e.g. increasing size of vegetations while under
therapy
 Complications: Severe valve involvement with intractable heart
failure, myocardial abscess, recurrent emboli
(American Heart Association 2007, Nelson 2016)
Prognosis: Despite the use of antibiotic agents, mortality is at 20-25%. Serious
morbidity occurs in 50-60%

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Heart failure
Definition
Clinical syndrome in which the heart is unable to pump enough blood to
meet body needs.
Causes
Congenital heart diseases are the commonest Rheumatic heart diseases (in
causes of heart failure in infancy school age)
ƒ Myocarditis ƒ Acute hypertension
- Viral e.g. Coxachie A, B & Echo viruses ƒ Severe anemia
- Toxic e.g. drugs, diphtheria .
ƒ Dilated cardiomyopathy.
ƒ Infective endocarditis
Dysrhythmia ƒ Acute cor pulmonale
ƒ Supraventricular tachycardia ƒ Broncho pulmonary dysplasia
ƒ Complete heart block
ƒ Nutritional e.g. Beri Beri, Kwashiorker, Keshan disease(selenium deficiency)

Clinical features
A. Symptoms
Infants
- Poor feeding; takes less volume per feeding, becomes
dyspneic while sucking, and may perspire profusely
- Poor weight gain.

Older child
- Dyspnea on exertion.
- Effort intolerance.
- Ankle edema.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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B. Signs
Compensatory response to heart failure
1- Tachycardia, gallop rhythm & weak pulse.
2- Cardiomegaly is almost always present.
3- Cold, sweaty skin (increased sympathetic derive)

Pulmonary congestion
1- Tachypnea
2- Exertional dyspnea
- Infant o poor feeding.
- Child o dyspnea & orthopnea
3- Chest wheezes & fine crepitation.

Systemic congestion
1- Enlarged tender liver (may be absent in early left sided failure).
2- Congested neck veins; hard to detect in infants due to short neck.
3- Edema o generalized start in ankles (sacral in bed ridden)
4- Edema in infants usually involve eye lids and the sacrum

Investigations (Heart failure is a clinical diagnosis)

1. Chest X-ray

R Cardiomegaly
R Fluffy perihilar pulmonary markings

2. Echocardiography
R Confirm ventricular dysfunction
 Using fractional shortening (difference
between end-systolic and end-diastolic
diameter divided by end-diastolic diameter)
 Normal value is between 28% and 42%
R Doppler can estimate cardiac output
R May detect the cause of failure.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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3. Magnetic resonance angiography (MRA)

 Quantifies left and right ventricular function, volume and mass.
 Quantifies the regurgitant fraction in valvar regurgitation
4. ECG: - Detect arrhythmias.
Treatment
1. Hospitalization
R Bed rest as needed in a semi-upright position(infant chair for infants)
R O2 inhalation ± positive pressure ventilation can significantly reduce total
body oxygen consumption
R Low salt diet o avoid further salt and water retention.
R Increasing daily calories (nasogastric feedings may be helpful)
R Sedation
2. Treat the cause
3. Improve the cardiac performance via:
Decrease the after load
(decrease peripheral vascular
resistance) by Vasodilators

Decrease the pre Increase myocardial

load by contractility by
Diuretics Digoxin/Inotropes

a. Diuretics
Acute heart failure
x Furosemide
 I.V. ( 0.5-2 mg/kg/dose) or oral (1-4 mg/kg/day)
 Precautions : monitor serum electrolytes and acid
base(Hypokalemia and alkalosis o may increase digitalis toxicity)
x Nesiritide (B-type natriuretic peptide) IV infusion
Chronic heart failure
x Spironolactone (potassium sparing diuretic)
x Thiazide duiretics
b. Vasodilators
Used if blood pressure allows and in absence of obstructive lesions
Actions
 After load reducers
 Cardiac remodeling

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Commonly used drugs

 Angiotensin converting enzyme (ACE) inhibitors e.g. Captopril,
Enalapril
 Angiotensin receptor blockers [ARBs]
Indicated mainly in:
 Dilated cardiomyopathy/myocarditis
 CHD with large left to right shunt.
 Severe MR and AR
 Hypertensive heart failure
c. Digoxin
Digitalization
R Total digitalizing dose (TDD)
Oral TDD (microg/kg) I.V. TDD
Premature 20
Newborn 30 75% of oral T.DD.
Infants < 2 y 40-50
Child > 2 y 30-40

½ the TDD is given immediate

¼ TDD after 12 hours

¼ TDD after another 12 hours

R Precautions
 Obtain ECG before each of the 3 digitalizing doses
 Measure baseline serum electrolyte before and after digitalization
R Maintenance dose
 Oral:5-10 μg/kg/day, divided q12h
 IV dose is 75% of oral dose
 Trough serum level: 1.5-3.0 ng/mL <6 mo old; 1-2 ng/mL >6 mo old
Absolute contraindications to digitalis
- Cardiac outlet obstruction e.g. Hypertrophic cardiomyopathy.
- Fallot’s tetralogy
- Heart block.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Other inotropes
ƒ Used for short term in ICU setting ;given by intravenous infusion
ƒ Dobutamine ± Dopamine
ƒ Milrinone( Phosphodiesterase inhibitor)
Digitalis toxicity
1. Causes
- Accidental over dose.
- Renal impairment.
- Increased myocardial sensitivity e.g.: hypokalemia & active myocarditis
- Drug interactions.
2. Signs
- Anorexia, vomiting
- Drowsiness & visual disturbance in older child.
- Bradycardia
- Worsening of heart failure.
- Arrhythmias (supraventricular arrythmia & heart block).
3. Treatment
R Continuous ECG monitoring.
R Stop digitalis
R Correct hypokalemia
R Correct arrhythmias by
a- Atropine 0.01 mg/kg/6 hours for heart block.
b- lidocaine for ventricular arrhythmia
R Increase excretion of digoxin by Digoxin immune Fab (Digibind), slow
I.V.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Systemic Hypertension
Definition
¾ Average systolic blood pressure (SBP) and/or diastolic blood pressure (DBP)
WKDWLV•WKSHUFHQWLOHIRUDJHVH[DQGKHLJKWRQ•RFFDVLRQV
¾ 3UHK\SHUWHQVLRQZDVGHILQHGDVDYHUDJH6%3RU'%3WKDWDUH•WKSHUFHQWLOH
but <95th percentile
¾ In adolescents beginning at age 12 yr, prehypertension is defined as BP between
120/80 mm Hg and the 95th percentile
Causes
1. Essential (primary) hypertension
 Rare in children; common in adults.
 Associations o obesity, hereditary, increased sensitivity to salt intake.
2. Secondary
Etiology Acute Chronic
Renal - Acute glomerulonephritis.  Renal tumors, hypoplasia, dysplasia.
- Acute renal failure.  Chronic pyelonephritis
- Hemolytic uremic  Hydronephrosis/reflux nephropathy.
syndrome.  Renovascular:
R Renal artery stenosis, thrombosis,
R Polyarteritis.
R Renal vein thrombosis.
Endocrine  Cushing syndrome
 Hyperaldosteronism
 Congenital adrenal hyperplasia.
 Hyperparathyroidism(hypercalcemia)
Tumors  Neuroblastoma
 :LOP¶VWXPRU
 Pheochromocytoma

Cardiac  Coarctation of aorta

Neurologic  Acute n intra cranial

tension.
 Guillian Barre syndrome
 Poliomyelitis.
Drugs - Sympathomimitics. - Steroids - NSAIDs

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Possible mechanisms in 2ry hypertension

ƒ Stimulation of Renin-Angiotensin-Aldosterone system e.g. renal hypertension.
ƒ Salt & water retention e.g. Cushing & hyperaldosteronism.
ƒ Stimulation of vasomotor center e.g. neurologic hypertension.
ƒ Vasoconstriction due to:
 n Release of catecholamines e.g. pheochromocytoma
 Sympathomimitc drugs.
Presentation
1- Usually asymptomatic.
2- May be o headache, irritability, blurr of vision (in severe cases)
3- Complications
* Hypertensive heart failure.
* Acute pulmonary oedema.
* Hypertensive encephalopathy :
 Severe bursting headache, vomiting,
 Irritability, convulsions and coma.
 Fundus examination
R Vasospasm
R Papilloedema
R Retinal hemorrhage.
Investigations
ƒ 24 hour Ambulatory Blood Pressure Monitoring (ABPM).
ƒ Calculate mean daytime BP, and sleep BP over 24 hr.
ƒ ABPM is useful in the evaluation for:
 White coat hypertension
 Risk of hypertensive target organ damage
 Response to pharmacologic therapy (confirms physiologic nocturnal
dipping of blood pressure essential for kidney vitality)
Workup for 2ry causes
1. Renal
 Urine analysis, urine culture, renal function tests.
 Abdominal ultrasound.
 Renal Doppler.
x If blood pressure is QRWFRQWUROOHGRQ•GUXJV
 Pre and post captopril renal scintigraphy and or
 CT or MRI angiography
x If strong suspicion of renovascular hypertension
 Digital Subtraction Angiography
 Selective renal vein rennin level

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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2. Cardiac
 Chest X-ray
 Echocardiography (For a cause or effect of hypertension).
3. Endocrinal
 Electrolytes (potassium & sodium).
 Night time blood or salivary cortisole level on in Cushing.
4.Tumors
 24hr urine vallynile mandilic acid (VMA); (metabolite of catecholamines)
on in pheochromocytoma & Neuroblastoma.
 Abdominal ultrasound, CT, MRI.
Treatment
R Children with BP between the 95th and 99th percentile plus 5 mm Hg are
categorized as stage 1 hypertension
R children with BP above the 99th percentile plus 5 mm Hg have stage 2
hypertension.
R Stage 1 hypertension, if asymptomatic and without target organ damage, allows
time for evaluation before starting treatment
R Stage 2 hypertension calls for more prompt evaluation and pharmacologic
therapy
Goals
 Reduce BP below the 95th percentile
 In the presence of chronic kidney disease, diabetes, or target organ damage, the
goal should be to reduce BP to less than the 90th percentile
 If blood pressure between 90 -95th percentile continue monitoring

A. Chronic hypertension
I. Primary hypertension
1. Non pharmacologic
- Weight reduction may result in a 5-10 mmHg reduction in systolic pressure
- Low salt, potassium rich diet
- Dynamic aerobic exercises
- Physical fitness
2. Drug therapy
Indications
- Family history of early complications of hypertension
- Target organ damage (ocular, cardiac, renal, neurologic)
- Symptomatic hypertension

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Stepped care approach

– Step 1: A small dose of single antihypertensive drug either diuretic or an
adrenergic inhibitor
– Step 2: If the first drug ineffective a second drug is added to or substitute
the initial drug starting with small dose then proceed to a full dose.
– Step 3: If blood pressure is still high a third drug; usually a vasodilator, is
added
Drugs
* Diuretics e.g. hydrochlorothiazide, chlorothiazide, spironolactone
* Adrenergic inhibitor e.g. atenolol, prazocin
* Vasodilator e.g.
 Hydralazine
 ACE inhibitors e.g. captopril , enalapril
 Calcium channel blockers e.g. nifedipine, amelodipine
II. Secondary hypertension
 Treat the cause whenever possible
 Drug therapy as in essential hypertension

B. Acute hypertension
x The blood pressure should be reduced by 10% in the 1st hour, and 15% more
in the next 3-12 hr, but not to normal during the acute phase of treatment
x Hypertensive urgencies, usually accompanied by few serious symptoms such
as severe headache or vomiting, can be treated either orally or intravenously.
Action plan
1. Ensure safe airway, breathing and circulation (ABC)
2. Slow reduction of blood pressure is mandatory.
3. Drugs useful in acute hypertension:
With severe symptoms
 Hydralazine 4 hourly IM,IV
 Labetalol IV infusion
 Esmolol IV infusion
 Nicardipine IV infusion
 Sodium nitroprusside IV infusion
With less severe symptoms PO
 Clonidine, hydralazine, or isradipine.
 Minoxidil is the most potent oral vasodilator; long-acting
4.Treat the cause (in 2ry hypertension).
5.After adequate control of acute hypertension shift to oral antihypertensives

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
‫\‪+HPDWRORJ‬‬
‫‬
‫‬
‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‪.‬‬
‫ﺩﻋﻮﺍﺗﻜﻢ‬ ‫ﺭﻓﻌﻪ ﺩ‪ .‬ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‪.‬‬

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Introduction to Pediatric Hematology
Intrauterine hematopoiesis passes into 3 stages:
Yolk sac hematopoiesis Visceral hematopeiosis Medullary hematopeiosis
st th th
In the 1 8 weeks 8 week o 6 month 6th month o onwards
In the yolk sac In the liver, spleen, Settles in the bone marrow
lymph nodes & thymus
Exposure to hematologic stress (e.g. chronic hemolysis) o ++ bone marrow then
++ extramedullary hematopoiesis in the spleen and the liver.
Bone marrow contain pleuripotent stem cells which give colony forming unit (CFU):
R ErythroidoErythroblastsoNormoblastsoReticulocytesoRBCs
R MyeloidoMyeloblastoPromyelocyteoMyelocyteoMetamyelocyteo mature WBCs
R Megakaryocytic oMegakaryoblastoMegakaryocyte oPlatelets
xNormal erythropoiesis requires
Regulatory hormones Essential nutritional
 Erythropoietin elements
 Androgen - Proteins
 Thyroxin - Iron
 ACTH - Folic acid
 Cortisol - Vitamin B12
x Normal stem cells in bone - Copper
 Growth hormone marrow
Hemoglobin (Hb) composition
Hb molecule is composed of Heme groups (ferrous iron containing)
attached to 4 polypeptide chains which define the type of Hb.
Types of normal hemoglobins
1. Emberyonic hemoglobin :
 Gower 1, 2 and Portland
 Disappear by the 3rd month
2. Foetal hemoglobin
 Hb F (D2, J2)
 Has high affinity to O2
3. Adult hemoglobin: Hb A (D2, E2),Hb A2 (D2, '2)
Switch mechanism in hemoglobin synthesis
Emberyonic life 6th month At Birth 6-12 month postnatal
Emberyoic Dominant -- -- --
Hb F -- 90 % 70 % <1%
Hb A -- 10 % 30 % 97 %
Hb A2 -- -- Trace 2%
rd th
* At the 3 – 6 month o normal switch from J to E chain production occurs

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Blood indices

ƒ Hemoglobin content:
- In 1st 2 weekso 16-20 gm/dl (intrauterine hypoxia onerythropoietin).
- In infancy o 10-14 gm/dl
- Adult male o 13.5- 17.5 gam/dl
- Adult female o 11.5 – 15.5 gm/dl
ƒ RBCs count:
- In newborn o 6 million / mm3.
- Adult male o 4.5- 6 million / mm3
- Adult female o 4 - 5.5 million / mm3
ƒ Hematocrite value(Ht. value) ; packed red cell volume
* Percent of RBCs volume in 100 ml blood | 40-50%
* Increased in
 Polycythemia
 Hemoconcentration(dehydration)
* Reduced in
 Anemia
 Hemodilution
ƒ Mean corpuscular volume (MCV)
- Normal: 72 – 79 femto liter.
- If < 70 o RBCs are small (Microcytes).
- If > 85 o RBCs are big (Macrocytes)
ƒ Mean corpuscular hemoglobin (MCH)
- Normal: 27- 34 pg.
- If < 27 pg o RBCs are hypochromic.
ƒ Mean corpuscular hemoglobin concentration (MCHC)
- Concentration of Hb. in an erythrocyte
- Normal: 33%
- If < 30 % o RBCs are hypochromic
ƒ Reticulocytic count (RC)
* In neonatal period < 5 %
* Later on 0.5 – 1.5 %
* Reticulocytosis occur in:
- Hemolytic anemia.
- Hemorrhage
- Response to hematinic e.g. (iron, folic acid)
- Recovery of bone marrow from suppression.
* Reticulocytopenia occur in bone marrow failure
ƒ White blood cells count
 In neonatal period =15.000 – 20.000 / mm3
 Later on = 4.000 – 11.000 / mm3
ƒ Platelet count 150.000 – 450.000 / mm3

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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2 Illustrated Baby Nelson

Anemia
Definition
Reduction of hemoglobin and/or RBCs count
Below the average value for age and sex
Interfering with oxygen carrying capacity of blood

General features of anemia

Symptoms (all are non-specific) Signs (all are non-specific)
 Fatigue, headaches and faintness are  Pallor
all very common  Tachycardia (palpitation)
 Palpitations
 Breathlessness  Hemic murmurs (functional, systolic).
 Angina  Heart Failure in severe anemia (with
 Intermittent claudication hemoglobin < 4 gm/dl)
Classification of anemia
A. Morphologic Classification

Microcytic anemia Normocytic anemia Macrocytic anemia

MCV < 70 fl 72-79 fl >85 fl

B. Etiologic Classification

I. Decreased production

a. Decreased erythroid cells in bone marrow

(Bone marrow failure)
 Pure red cell anemia.
 Aplastic anemia
 Marrow infiltration e.g. Leukemia

b. Decreased red cells production despite

normal RBCs precursors
* Anemia of chronic disease:
 Chronic inflammation
 Chronic infection
 Chronic renal failure

c. Specific factor deficiency (Dyshemopiotic anemia) e.g. deficiency of

* Minerals: Iron, copper * Vitamins: B1, B6, Folic acid and B12. * Protein

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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II. Increased destruction (hemolytic Anemia)
A. Intra corpuscular causes

a. Membrane defects
- Hereditary spherocytosis
- Hereditary elliptocytosis.
- Paroxysmal nocturnal
hemoglobinuria

b. Hemoglobinopathy
- D thalassemia
- E thalassemia. c. Enzymatic defects
- Sickle cell disease - G6PD deficiency
- Pyruvate kinase
deficiency.

B. Extra corpuscular causes

Immunologic Non immunologic

(Coombs test Positive) (Coombs test Negative)
1. Iso immune hemolytic anemia 1.Microangiopathic Hemolytic Anemia(MAHA)
(passively acquired antibodies) - DIC
- Hemolytic disease of newborn - Hemolytic Uremic Syndrome (HUS).
- Incompatible blood transfusion - Renal Vein Thrombosis (RVT).
- Artificial & Calcified Cardiac Valves
- Disseminated Cancer
2. Autoimmune hemolytic anemia - Thrombotic Thrombocytopenic Purpura
(actively formed antibodies): 2. Septicemia (E.G. Clostridia Welchii)
- Idiopathic 3. Malaria Due To: - Direct Effect
- Secondary - Drug Induced
4. Drugs, Heavy Metals, Snake Venom
5. March Hemoglobinuria
6. Paroxysmal Nocturnal Hemoglobinuria
7. Hypersplenism

III. Hemorrhagic anemia

- Acute hemorrhage
- Chronic hemorrhage.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Bone Marrow
 Failure
A.Trilineage failure
&ULWHULD - Failure of the 3 cell lines with pancytopenia
- No organomegaly nor lymphadenopathy.
&DXVHV
a. Congenital
1. Fanconi anemia
2. Familial aplastic anemia
3. Dyskeratosis congenital; Ectodermal dysplasia with:
R Skin pigmentation
R Mucous membrane leukoplakia
R Nail dystrophy
R Others : short stature ,cataract, mental retardation
b. Acquired
1. Idiopathic
2. Secondary
B. One cell line failure
5HGFHOOV (hypoplastic anemia;pure red cell anemia)
a. Congenital
- Diamond Blackfan anemia
- Congenital dyserythropoietic anemia
- Pearson's Syndrome
b. Acquired
* Idiopathic: transient erythroblastopenia of childhood
* Secondary: to Drugs, Infections, Parvo B19 , Malnutrition
:KLWHFHOOV
1. Schwashman Diamond syndrome: pancreatic insufficiency, metaphyseal
dysplasia
2. Kostmann disease (severe congenital neutropenia)
3. Reticular dysgenesis
3ODWHOHWV
1. Congenital amegakaryocytic thrombocytopenia
2. TAR syndrome (thrombocytopenia absent radii syndrome)

N.B : Dyserythropoiesis (ineffective erythropoiesis).

i. Primary (congenital dyserythropoietic anemia).
ii. Secondary dyserythropoiesis:
- Megaloblastic anemia (folic acid, or vit B12 deficiency).
- Thalassemia syndromes.
- Sideroblastic anemia.
- Paroxysmal nocturnal hemoglobinuria

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Aplastic anemia

Definition
Marked decrease or absence of blood forming elements in the bone marrow (BM)
with peripheral pancytopenia (decreased RBCs, WBCs and platelets).
Etiology
1. Congenital aplastic anemia: e.g. Fanconi anemia
2. Acquired aplastic anemia.
•Idiopathic (50%)
•Secondary
- Irradiation
- Insecticides
- Infections e.g. Ebstein Barr virus, hepatitis viruses , HIV
- Drugs o Dose dependent bone marrow depression e.g. chlorambucil
o Idiosyncratic non dose dependent BM depression by:
- Antibiotics o Chloramphenicol , sulphonamides
- Anticonvulsants o Carbamazepine, phenytoin
- Antithyroid o Carbimazole, thiouracil
- Antimalarial o Chloroquin
- Antirheumatic o Indomethacin, phenylbutazone
- Diseases o SLE, Paroxysmal nocturnal hemoglobinuria (PNH)
Pathogenesis Of acquired aplastic anemia:
• Theory: Altered bone marrow stem cells antigen proteins e.g. by drugs or
infection o Activated T lymphocytes o ĹTNF and Interferon Ȗ o accelerated
stem cells apoptosis o pancytopenia.
• Aplastic anemia is unstable condition; may progress to myelodysplastic
syndrome and leukemia
Clinical picture

R Thrombocytopenia opurpura
R Anemia o pallor (+ ZHDNQHVVIDWLJXHHWF«« )
R Lecuopeniao frequent, persistent infections
R No organomegaly (no hepatosplenomegaly nor lymphadenopathy).

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Fanconi anemia
Inheritance: Mainly autosomal recessive
Clinical features
Microcephaly / mental
Skeletal anomalies (60%) retardation (17 %)
Triangular facies
 Abnormal thumb
(absent or hypoplastic)
Congenital anomalies
 Absent radii
e.g.
 Eye
Short stature with short
trunk  Ears
 Cardiac
 Renal
Skin pigmentation (café  Genital
au lait spots) mainly over
the trunk

Hematological
x High risk of malignancy e.g. acute myeloid
leukemia and solid cancers
x Pancytopenia :
- Typically starts with thrombocytopenia or
leukopenia
- Usually between 4th – 12th year (earlier or
later presentation do occur)
- Bone marrow is aplastic
Investigations
1. CBC
 Pancytopenia (with macrocytic anemia)
 Reticulocytopenia
2. BM
 Hypo cellular BM
 Replaced by fibro fatty tissue.
3. In Fanconi anemia :
 Cytogenetic of blood lymphocytes shows
increased chromosomal breakages and exchanges
induced by mutagen (e.g. Mitomycin C)
 Mutation analysis
4. Investigations for a cause e.g. viral serology

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Differential diagnosis
1- From other causes of pancytopenia
2- From other causes of purpura e.g. Idiopathic thrombocytopenic purpura.
Treatment
1. Supportive care; see leukemia
2. Specific treatment: Indicated in severe aplastic anemia
a. For Fanconi anemia
1. Androgen therapy (Oxymetholone) effective in 50 %
2. Hematopoietic stem cell transplantation (HSCT) from HLA matched
donor
b. For acquired aplastic anemia
1. Hematopoeitic stem cell transplantation from HLA matched donor
2. If HSCT was unavailable use (alone or in combination):
- Anti thymocyte globulin
- Cyclosporine
- Methyl prednisolone
- Granulocyte colony stimulating factor (G-CSF)

Causes of pancytopenia:
* Bone marrow failure e.g.
- Aplastic anemia
- Advanced megaloblastic anemia
- Myelophthisis: Bone marrow infiltration
* Hypersplenism (Pancytopenia with compensatory bone marrow hyperplasia)
* Fulminant sepsis
* Auto immune (Evans syndrome)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Congenital Pure red cell anemia

(Diamond Blackfan Anemia)

Definition
Familial disease due to decreased sensitivity of erythroid cells to erythropoietin o
hypoplasia of RBCs precursors.
Clinical picture
R Pallor: usually evident by the 2nd – 6th months.
R Associated anomalies
- Abnormal thumbs; (triphalangeal thumb)
- Congenital heart diseases.
- Short stature
R Hepatosplenomegaly, if present, is due to
chronic transfusion therapy.
R High risk of acute myeloid leukemia.

Investigations
1. CBC
- Macrocytic anemia &reticulocytopenia
- Normal platelets and WBCs.
- Increased erythrocyte adenosine deaminase activity (ADA)& hemoglobin F
2. BM
- Decreased erythroid cells.
- Normal myloid and megakaryocytic cells.

Treatment
1- Steroids: Give remission in 80%.
2- Chronic transfusion therapy with iron chelation for steroid resistant cases
3- Bone marrow transplantation.

Differential Diagnosis
Form acquired pure red cell anemia
* Idiopathic: Transient erythroblastopenia of childhood;
- Due to transient immunologic suppression of RBCs synthesis
- No anomalies
- Normocytic normochromic red cells
- Usually need no treatment (recover within 1-2 months).
* Secondary: to Drugs, Infections, Parvo B19, Malnutrition

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Iron Deficiency Anemia (IDA)

Incidence: The most common cause of anemia in pediatrics.
Iron metabolism
- Daily requirements: 8-15 mg/day
- Most of dietary iron present in ferric state.

- Iron changes to ferrous by combined action of HCL & vitamin C.

- Only 5-10% of dietary iron is absorbed from the duodenum and proximal jejnum

- Factors enhancing absorption e.g. decreased hipcidin, vitamin C, Ĺerythropoiesis

- Factors impairing absorption e.g. increased hepcidin, hypochlorhydra, tannate

- Absorbed iron is bound to serum transferrin and stored as ferritin to be used in

a. In bone marrow o RBCs
b. In cell enzymes e.g. Catalase, peroxidase, mono amine oxidase (MAO).

Iron homeostasis regulation

 Hepcidin as the main regulator of systemic iron homeostasis

 Hepcidin synthesis is induced by iron loading and inflammation and suppressed
by erythropoiesis.
 Increased hepcidin levels limit further enteral iron absorption and release of
iron from the liver and the reticuloendothelial system to normalize plasma iron
levels.
 With increased inflammation, elevated hepcidin levels cause the same sequence
of events, leading to reticuloendothelial blockade and the anemia of
inflammation.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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2 Illustrated Baby Nelson

Causes
1. Decreased intake In infants 6-24 months due to:

a. Delayed weaning (Prolonged b. Unfortified animal (Cow) milk feeder

breast-feeding without Due to:
supplementation) due to:  Low iron content
 Depletion of the baby’s iron  Low lactoferrin content
store by the 6th month  Presence of heat labile protein
 Iron in breast milk is no more which induces occult blood loss
enough beyond 6th month

2. Decreased iron absorption

- Excess tea, phytate & antiacids
- Achlorhydra e.g. atrophic gastritis
- Malabsorption syndrome
3. Decreased iron stores
- Iron deficient pregnant
- Perinatal blood loss.
- Preterm.

4. Increased loss
a. Occult blood loss due to
- Ankylostoma - Peptic ulcer, polyps, GERD
- Cow milk protein allergy - Meckle’s diverticulum
- Drug induced gastritis. - Esophageal varices

b. Overt blood loss e.g

Epistaxis, hematuria, hemodialysis

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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3 Illustrated Baby Nelson

5. Increased requirements due to:

 Accelerated rate of growth in preterm,
infants, adolescence.
 Congenital cyanotic heart diseases (due to
polycythemia)

Clinical picture
1. Mild anemia is asymptomatic.
2. Manifestations of anemia (anorexia, pallor,…) vary with severity of iron
deficiency.
3. Systemic manifestations:
x Decreased Alertness, learning &
concentration span (due to p iron
containing cellular enzymes).

x Atrophic glossitis : tongue

is pale ,glazed (smooth)
x Angular stomatitis
x Palpitation (Tachy cardia)
on exertion
x Cardiomegaly in severe
deficiency

x Nails Ÿ Brittle , longitudinal

ridges, flattening and
spooning (koilonychia)
x Palpable spleen in about
10 % of cases
x Pica (Geophagia) desire to ingest unusual substances e.g. dirts
, mud ,chalk (increases the risk of concomitant lead poisoning)
4. Clinical signs of an underlying cause e.g. Ankylostoma anemia
Iron deficiency anemia plus
- Parotid enlargement (endemic parotitis)
- Recurrent abdominal Pain
- Bouts of diarrhea and constipation
- B complex vitamins deficiency: pellagra , nutritional edema
- Eosinophelia in the CBC and ova in stool analysis

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Investigations
A. For diagnosis
1. CBC
 Anemia: p Hb%, p RBCs count
 Hypochromia: - MCH < 27 Pg
- MCHC < 30%
 Microcytosis MCV < 70 fl
* Blood film shows:
 Abnormally large central pallor (hypochromic cells)
 Target cells
 Wide red cell distribution width (RDW) and anisocytosis
* Normal white blood cells
* Thrombocytosis is often present
2. Iron indices
Index Iron deficiency normal range
R Serum Iron. < 30 Pg / dl 60 - 140 Pg / dl
R Transferrin saturation. < 16 % 30%
R Total iron binding capacity (TIBC) Increased 250-400Pg / dl
R Soluble serum transferrin receptors Increased Variable cutoff
ƒ Serum ferritin (index of iron stores) < 15 ng / ml 15-300 ng/ml
ƒ Reticulocyte hemoglobin content * < 27.5 pg
ƒ Marrow iron stores Absent
ƒ Hepcidin** Usually ”10 ng/mL
*
A sensitive indicator that falls within days of onset of iron-deficient erythropoiesis and is
unaffected by inflammation
**
Extremely elevated in anemia of inflammation and suppressed in iron deficiency anemia
B. For the cause
- Stool analysis for parasites, ova and occult blood tests
- GIT barium study, endoscopy,and tests for achlorhydra
- Workup for malabsorption
- Workup for hemorrhagic diseases
Treatment
1. Treat the cause
2. Diet
 Excessive intake of milk, particularly bovine milk, should be limited
 infants who are breast and cow milk feeders require prophylactic oral iron
given at 4th – 6th months (2mg/kg/d)
 in weaned; encourage intake of vitamin C, meat, fish

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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3. Iron preparation
Oral Iron
R Dose:3- 6 mg/kg/d. elemental iron
R In-between meals
R Continued for 8 wk after blood values normalize to re-establish iron stores
R Side effects: GIT upset, constipation and dark stool.
R Preparations:
 Ferrous sulphate (The best; contain 20 % elemental iron)
 Ferrous gluconate
 Ferrous lactate
Parentral Iron
R Preparation
 Iron Dextran (Imferon) or Iron sucrose (Venofer) IV
 Iron sorbitol (Jectofer) deep IM
R Indications
 Intolerance to oral iron
 GIT disorders aggravated by oral iron e.g. IBD
 Malabsorption
 Rapid loss of iron
R Side effects
 :LWK,0ĺVWDLQLQJDEVFHVV
 :LWK,9ĺDQDSK\OD[LVVWDUWZLWK an observed test dose)
4. Packed red cell transfusion: is considered in
 Severe anemia (Hb < 7- 8 gm/dl).
 Anemic heart failure.
 Infection interfering with iron therapy.
Response to iron therapy
Time after iron
Response
administration
Replaced cellular enzymes o decreased irritability
st
By the 1 day and
improved appetite.
nd
By the 2 day Erythroid hyperplasia in bone marrow.
rd
By the 3 day Reticulocytosis peaking at 5-7days
st
By the 1 month Increase hemoglobin at rate of 0.25 – 0.5 gm/dl/day
rd th
By the 3 - 6 months Repletion of stores.
Mentzer index (MI) = Packed cell volume / RBC count in millions
* Help differentiate microcytic anemia of iron deficiency from E thalassemia trait
* MI In iron deficiency anemia >13 * MI In E thalassemia trait <13

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Differential Diagnosis of microcytic anemia that fails to respond to oral iron

1. Poor compliance / incorrect dose or medication
2. Malabsorption of administered iron
3. Ongoing blood loss
4. Concurrent infection or inflammatory disorder inhibiting the response to iron
5. Concurrent vitamin B12 or folate deficiency
6. Diagnosis other than iron deficiency
a) Hemoglobinopathies: Thalassemia , Sickle thalassemia , Hemoglobin C and
hemoglobin SC disease
b) Anemia of chronic disease
 In any disease with chronic inflammation e.g. Chronic infections
 Anemia is usually normocytic ; occasionally microcytic
 Inflammatory mediators and raised Hepcidin are the main etiologies
c) Lead poisoning
 History of exposure or iron deficiency with Pica
 Blue staining of gums, abdominal pain
 Lab: Basophilic stippling of RBCs ,high serum lead level, free erythrocyte
protoporphyrin
d) Siderblastic anemia (X-linked disorder)
 Due to abnormal erythrocytic 5-aminolevulinic acid synthetase (ALAS), the
rate-limiting enzyme reaction in heme synthesis. An important cofactor for
ALAS is pyridoxal phosphate.
 Treatment: Stem cell transplantation for transfusion dependent cases
IDA Anemia Of Thalassemia Sideroblastic
Chronic Disease traits Anemia
Serum Ferritin  Decreased  Increased  Normal  Increased
Serum iron  Decreased  Decreased  Normal  Increased
TIBC  Increased  Decreased  Normal  Normal
Transferrin  Decreased  Decreased  Normal  Increased
saturation
Bone Marrow  Absent iron  Increased iron  Normal iron  Increased iron
 Ringed sideroblasts
Specific  ĹĹ6ROXEOH  Normal soluble  Electrophoresis  HSM, icterus
transferrin transferrin  May respond to B6
receptors receptors
 ĻĻ+HSFLGLQ  ĹĹ+HSFLGLQ
 High CRP
(Nelson textbook of pediatric)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Megaloblastic anemia

Definition: Anemia with megaloblasts in BM and macrocytes in peripheral blood.

Causes
i- Vitamin B12 (cobalamin) deficiency
ii- Folic Acid deficiency.
Pathogenesis
Folic acid & B12 are essential for DNA synthesis in stem cells of RBCs, platelets
and WBCs. So in folic acid or B12 deficiency

Nucleus can’t divide While RNA is normal

p RBCs production nn Cytoplasm.

n Megalobasts in BM

Macrocytes in blood Can’t leave BM.

(with nuclear remnants; Howell Jolly
bodies and Cabot rings)

Trapped prematurely in the spleen Intramedullary lysis

Extramedullary lysis

Metabolism
Vitamin B12 Folic acid
Sources
Animal origin only e.g. milk, meat. - Animal & plant (green leaves, fruits)
Requirements
5 – 20 Pg /day 20 – 50 Pg /day
Absorption
Gastric parietal cells release intrinsic Absorbed from the proximal intestine
factor (IF) which binds to B12 o (duodenum and jejunum)
B12/IF complex o absorbed from Requires vitamin C for absorption
the terminal ileum
Stores enough for 2-4 years Stores enough for 2-4 months

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Causes of B12 and folic acid deficiency
Vitamin B12 Folic acid
Decreased * Infants breast fed to * Infants fed on: Goat’s milk
intake vegetarian mums
Decreased * Malabsorption syndrome * Malabsorption syndrome
absorption * Intrinsic factor defect * Vitamin C deficiency
- Pernicious anemia
- Gastrectomy
* B12 /IF consumption by
Diphyllobothrium latum or
bacterial overgrowth.
* Ileal disease Or resection
Impaired Defective transport: * Cytotoxic drugs o methotrexate
metabolism Transcobalamin II deficiency * Anticonvulsant o phenytoin
o valproate
Others . * Increase requirements: e.g.
- Prematures (pstores)
- Pregnancy
- Chronic Hemolytic anemia
* Reduced stores: liver cirrhosis
* Increased loss: hemodialysis
Clinical picture
A. Hematologic
* Anemia (Anorexia, pallor, tiredness , ……..) with slight jaundice.
* Advanced megaloblastic anemia o thrombocytopenic purpura and leucopenia
* Mild hepatosplenomegaly due to intramedullary hemolysis
B. GIT manifestations esp. in folate deficiency:
* Atrophic glossitis o Beefy red glazed tongue in 25 %
* Atrophic gastritis o Dyspepsia, vomiting, risk of cancer stomach
* Atrophy of intestinal mucosa o Abdominal pain and chronic diarrhea.

C. Neurologic manifestations: Sub acute Combined Degeneration (SCD)

Only with severe vitamin B12 deficiency (? irreversible)
* Degeneration of
- Posterior column o deep sensory loss, sensory ataxia
- Pyramidal tract o Progressive weakness, Paraplegia
- Peripheral Nerve o Symmetrical paraesthesiae in fingers & toes

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Diagnosis
1. Is it megaloblastic anemia?
CBC

Macrocytic anemia Hyper segmented (hyper mature)

neutrophils (contain 4-5 lobes).

 Low Hb% & Ht value

 MCV > 100 fl
 MCHC = normal

Thrombocytopenia, leucopenia and reticulocytopenia in advanced cases.

BM
 Erythroid hyperplasia
 Megaloblastic changes

2. What is the cause?

A. Vitamin B12 deficiency
i. Is there Vitamin B12 deficiency?
 Low serum vitamin B12 (Diagnostic)
 Therapeutic test: 1 Pg B12 o reticulocytosis at 6th day
ii. What is the cause of Vitamin B12 deficiency?
a. Schilling test: done if the etiology was unclear
Radioactive B12 is given orally followed by an I.M. injection of
non-radioactive B12 to saturate B12 binding proteins

Normally If this is abnormal

>10 % of oral B12 excreted in The test is repeated with the addition
urine of oral intrinsic factor capsules

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Repeat test with oral radioactive B12 plus oral intrinsic factor

If the excretion is now normal If the excretion is still abnormal

Pernicious anemia or gastrectomy Terminal ileum lesion or bacterial

Overgrowth

Excretion is not corrected by Excretion is corrected by

antibiotics antibiotic course

Terminal ileum lesion Bacterial overgrowth

b. Gastric function tests: Histamine or pentagatrin test confirm achlorhydra

c. Serological tests: Anti-parietal and anti-IF antibodies
B. Folic acid deficiency
* Low serum folate; RBC level is better measure of tissue folate (Diagnostic)
* Therapeutic test: 0.2 mg Folate o look for reticulocytosis at 6th day
Treatment
A. B12 deficiency
a. Pernicious anemia
 Hydroxocobalamin IM 1000 Pg to a total of 6 mg over the course of 3
weeks Then 1000 Pg every 3 months for the rest of the patient’s life.
 Recent alternatives: high oral or sublingual dose 2 mg per day
b. Gastrectomy or ileal disease:
Monitor serum B12owhenever low o give prophylactic vitamin B12
c. Treat the underlying disease
B. Folic acid deficiency
a. Treat the underlying disease
b. Exclude subclinical B12 deficiency which ca be aggravated by folic acid
therapy
c. Folic acid 5 mg/day continued for 4 months to replace body stores.
d. Prophylaxis
 Chronic hemolytic anemia 5 mg weekly
 Premature<1500gm require 1 mg daily for 6 weeks
N.B:
Folic acid may produce a hematological response in vitamin B12 deficiency but
may aggravate the neuropathy. So Large doses of folic acid alone should not be
used to treat megaloblastic anemia unless the serum vitamin B12 level is known
to be normal

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Hemolytic Anemia
Definition
 Anemia resulting from increased RBCs destruction exceeding bone marrow
capacity for compensation (reduced RBCs survival).
 Normal RBCs life span 120 days.

Acute Hemolytic Anemia

(Intra vascular hemolytic anemia)
Causes
A. Intra corpuscular causes: - Enzymatic defects e.g. G6PD deficiency
B. Extra corpuscular causes

Immunologic Non immunologic

(Coombs positive) (Coombs negative)

Isoimmune Autoimmune 1. Microangiopathic hemolytic Anemia (MAHA)

Can be acute or chronic hemolytic anemia)
- Hemolytic disease - DIC
of newborn. - Hemolytic uremic syndrome (HUS).
- Mismatched blood - Renal vein thrombosis (RVT).
Transfusion. - Artificial & calcified cardiac valves
- Disseminated cancer
- Thrombotic thrombocytopenic purpura
2. Septicaemia (e.g. Clostridia Welchii)
3. Malaria due to: - Direct effect
- Drug induced
4. Drugs, heavy metals, snake venom
5. March hemoglobinuria
6. Paroxysmal nocturnal hemoglobinuria

General clinical manifestations

 Acute pallor.
 HyperBilirubinemia: - Indirect; lemon yellow color
- Dark colored urine (hemoglobinuria)
 Pyrexia and rigors.
 Loin Pain.
 In Profound anemia: rapid decompensation with blurred vision, lassitude and
anemic heart failure even death

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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General workup
1. Anemia: Usually normocytic normochromic , low Hb% and Ht. value.
2. Decreased RBCs Survival indicated by:
- n Plasma hemoglobin
- n Metheamalbumin
- p Haptoglobin & haemopexin (hemoglobin carriers).
- n Serum LDH

- n Unconjugated bilirubin - Hemoglobinuria

- Heamosiderinuria
3. Increased erythropioesis indicated in the CBC by:
- Reticulocytosis: Reticulocytic count > 8%
- n Normoblasts (immature nucleated RBCs).
Specific investigations
1. Coombs test (Anti Globulin Test): Diagnose Immunologic hemolytic anemia.
 Direct Coombs test detect antibody coated RBCs
 Indirect Coombs test detect free antibodies in serum

2. Blood film for:

- Heinz bodies in G6PD deficiency.
- Microangiopathic hemolytic anemia: - Fragmented RBCs (schistocytes).
- Thrombocytopenia.
- Malaria.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Glucose - 6 - Phosphate Dehydrogenase Deficiency

(G6PD Deficiency)

Etiology
* Hemolytic anemia due to age labile Glucose - 6 -
Phosphate Dehydrogenase enzyme
* Sex linked recessive disorder which seen mainly in males
* Occasionally seen in females if in homozygous state or
heterozygous state with random inactivation of the other
normal X chromosome (Lyon hypothesis).
Pathogenesis
* G6PD enzyme is key enzyme of Hexose Mono Phosphate (HMP) shunt which
produce reduced glutathione.
* Reduced glutathione protects the red cells against oxidizing agents.

* In G6PD deficiency o p reduced glutathione o impaired elimination of oxidants

o oxidation of Hb o methemoglobin o precipitate inside RBCs o acute
hemolysis.
Oxidizing agents include
 Food o Fava beans (favism)
contain vicine and convicine oxidants
 Infections o Viral or bacterial
 Drugs o Anti pyretics e.g. - Acetyle salicylic acid
- Phenacetin
o Anti-microbial e.g.- Sulpha ,Chloramphenical ,Nitrofurantion
o Anti-malarial e.g. Primaquine
o Anti tuberculous e.g. Para amino salsylic acid , isoniazid
Genetic variants
 Types A+ & B+ o Normal variants.
 Type A- o American type (enzyme activity = 5-15%).
 Mediterranean type o Severe deficiency (enzyme activity < 5%).
 Canton type.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Clinical picture
A. Acute hemolytic anemia
- Features of acute hemolysis without organomegaly (see before).
- Occur 2- 3 days after exposure to the oxidant trigger.
- Degree of hemolysis varies with the triggering agent and the severity of
G6PD enzyme deficiency
- Episodes usually brief as newly produced young RBCs have a higher enzyme
activity that can withstand oxidant stress
- May occur in the neonatal period o neonatal anemia & jaundice.
B. Chronic non spherocytic hemolytic anemia
- Extremely rare.
- Presents with pallor, tinge of jaundice and mild splenomegaly.
Investigations
1. For anemia o Low Hb% and Ht value.
2. For acute hemolysis o Evidence of p RBCs survival and n Erythropiosis.
3. For the cause:
i. Blood film

 Fragmented RBCs Heinz bodies

 Reticulocytosis  Denatured hemoglobin
 Appear as purple blue intracellular
inclusion bodies visible with
supravital stains
ii. G6PD Enzyme assay
 Done few weeks (2-4 weeks) after the acute attack
 During the acute attack, the bone marrow produces young RBCs with
higher enzymatic activity which may give false normal results.
Treatment
A. During the attack
 Resuscitation: Ensure ABC
 Packed RBCs transfusion (5-10 ml/kg) for severe attack (Hb < 7 gm/dl or < 9
gm/dl with persistent hemoglobinuria).Can be repeated
 Control triggers e.g. infection, stop oxidant agent
 In a neonate: treatment of associated neonatal jaundice

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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B. After the attack

- Avoid oxidant food & drugs.
- Anti oxidant o vitamin E.
- Offer screening of other sibling boys
- Offer a card with diagnosis that include forbidden and alternative drugs (e.g.
Anti pyretics in fever o paracetamol or ibubrufen) and avoided foods

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Chronic Hemolytic Anemia

Causes
A. Intra corpuscular causes
1. Membrane defects - Hereditary spherocytosis
- Hereditary elliptocytosis (ovalocytosis)
2. Hemoglobinopathy - D thalassemia
- E thalassemia.
- Sickle cell disease
3. Enzymatic defects - Pyruvate kinase deficiency
B. Extra corpuscular causes
1. Immunologic (Coombs +ve): Autoimmune hemolytic anemia (Warm type)
2. Non immunologic (Coombs –ve): Hypersplenism
General clinical features
a. Initially
1. Features of progressive Anemia (pallor, fatigue,...)
2. Tinge of jaundice :
- Indirect hyperBilirubinemia ; lemon yellow color
- Normal colored urine (acholuric jaundice)
b. In advanced and neglected cases
1. Skeletal changes due to bone marrow expansion: 
* Head (Mongloid features):
 Macrocephaly.
 Depressed nasal bridge.
 Prominent maxillae.
 Prognathism.
* Generalized osteoporosis.
2. Splenohepatomegaly due to extramedullary hematopioesis & hemosiderosis
3. Gall bladder Stones (Calcium bilirubinate) in chronic hemolysis for > 4 years.
c. Hematologic crises
1. Aplastic crisis (Erythroblastopenic crisis)

x Transient bone marrow hypoplasia

x Due to parvo-B19 infection (infect erythroid cells).
x Clinically:
 Increased pallor without deepening of jaundice
 Reticulocytopenia

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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2. Megaloblastic crisis due to folate deficiencyo aggravation of anemia
3. Hemolytic crisis
 Increased rate of hemolysis precipitated by infection
 Increasing pallor, jaundice , reticulocytic count
 Hemoglobinuria
4. Hyperhemolytic crisis due to associated G6PD deficiency
General Investigations
1. Anemia
* Low Hb% and Ht value
* Usually normocytic normochromic but may be:
- Macrocytic due to associated folate deficiency or marked reticulocytosis
- Microcytic in thalassemia and chronic hemoglobinuria
2. Decreased RBCs survival
* nUnconjugated bilirubin (usually < 5 mg/dl)
* Iron buildup: Ĺ6HUXPLURQDQGIHUULWLQ
3. Increased erythropoiesis
* Modest reticulocytosis ;peaks in hemolytic and hyperhemolytic crises
* Skull X-ray: shows
(Hair on end appearance).
 Marrow space expansion
 Wide diploic space
 Macrocephally

* Bone marrow aspirate: shows

 Erythroid hyperplasia
 May be megaloblastic in
associated folate deficiency
 May be aplastic in aplastic
crisis or PNH

4. p Chromium (51Cr) labelled RBCs survival:

Direct evidence of short RBCs survival (research tool only)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Specific investigation
1. Coombs test: Diagnose Immunologic hemolytic anemia.
2. Blood film for abnormal RBCs morphology e.g.
a. Target cells
RBCs with central staining, a ring of pallor,
and an outer rim of staining seen in
 Thalassemia
 Sickle cell disease
 Hyposplenism
 Obstructive liver disease
 Iron-deficiency anemia

b. Sickle cells
Seen in sickle cell anemia

c. Microspherocytes
Small spherical cells with loss of central pallor
, Seen in
 Hereditary sherocytosis
 Immune hemolytic anemia
 Hypersplenism
 Burn
 Sickle Cell disease

3. Osmotic fragility test/auto hemolysis test for Hereditary spherocytosis

4. Flow cytometry for PNH (Ham test is no longer used)
5. Hb electrophoresis for hemoglobinopathies

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Hereditary Spherocytosis
(Familial acholuric jaundice)
Pathogenesis
x The most common inherited hemolytic anemia in northern
Europeans
x Autosomal dominant disorder
x Due to deficiency of red cell cytoskeleton proteins(Ankyrin
or Spectrin or protein 4.2)

n Cell wall permeability to Na+ Release of micro vesicles

n Intracellular Na+ influx

n Water content inside RBCs

 Cells become spherical with more rigid and less deformable

 Premature RBCs aging (over work of Na/K pump)

Exposure to stressful splenic circulation (low pH, low glucose,

high oxidants, high macrophage contact )

RBCs are trapped and destroyed in the spleen.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Clinical picture
* Some patients may go through life with no symptoms
* Positive family history is present in 75% of symptomatic cases
1- Features of anemia starting early in life; 50% present by
2- Features of chronic hemolysis neonatal anemia and jaundice.
3- Gall stones are seen in 50% of unsplenctomized cases by 4-5 years

Investigations
1. For anemia o pHb% and pHt value ( usually normocytic anemia)
2. For chronic hemolysis o p RBCs survival & n erythropoiesis.
3. For the cause:
a. Blood film o RBCs are small, rounded without
central pallor i.e. spherocytes.
b. Negative Coombs’ test rules out autoimmune
hemolytic anemia as a cause of spherocytes in blood
film.
c. Incubated osmotic fragility test:
 Test is non-specific ;miss up to 20% of cases
 Normally when red cells are placed in solutions of increasing
hypotonicity, it takes in water, swell, and eventually lyses.
 Spherocytes (already swollen cells) lyse more readily than normal
biconcave cells
 In equivocal results ; perform incubated osmotic fragility test (incubate for
24 hours at 37 0C)
 Hemolysis is partially corrected by addition of glucose
d. Flow cytometric EMA (Eosin-5- Maleimide) binding test and the
cryohemolysis test are much more sensitive and specific

ƒ
ƒ

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Medical treatment
1- Supportive o folic acid 1mg/day (till splenectomy is done)
2- Slight anemia (Hb > 10 gm/dl & reticulocytic count < 10%) o follow up
3- Severe anemia requires packed red cells transfusions.
Elective splenectomy:
Indications ĺ Moderate to Severe anemia
ĺFrequent crises
ĺPoor growth
ĺCardiomegaly
Value : Clinical cure o prevent hemolysis, crises and gall bladder stones
Timing : It is best to postpone splenectomy until after 6 years to avoid
overwhelming fatal infections
Risks : Increased risk of overwhelming infections, particularly
encapsulated organisms
Precautions A. Vaccinate 2–3 weeks before splenectomy for:
 Pneumococcal polysaccharide vaccine; repeated every 5
years
 Meningococcal group C vaccine
 Influenza vaccine; repeated annually
 Haemophilus influenzaetype B (Hib) vaccine
B. Long-term penicillin V 250mg 12-hourly (or erythromycin)
C. Aggressive treatment for any febrile illness

N.B: Often, concomitant cholecystectomy should be performed if

there are gallstones detected in pre-operative abdominal ultrasound.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Paroxysmal Nocturnal Hemoglobinuria

Etiology
* Acquired hemolytic anemia where RBCs are susceptible for complement
damage
* Hematopoietic stems cells membranes lack decay accelerating factor (CD55)
and CD59 which are involved in complement degradation
* Absence of CD55 and CD59 o uncontrolled hemolytic action of complement
* Anemia is chronic with acute exacerbations
Clinical picture
* Features of intravascular hemolytic anemia with hemoglobinuria especially
after sleep by night
* Attacks of abdominal and back pain due to micro thrombi
* Complications
- Venous thrombosis
- Iron deficiency
- Aplastic anemia
Investigations
A. General investigations for intravascular hemolysis
B. Specific: Flow cytometric analysis of red cells with anti-CD55 and anti-CD59

Treatment
1. Blood transfusions (Leucocyte-depleted blood to prevent transfusion reactions)
2. Eculizumab
- A recombinant humanized monoclonal antibody that prevents the cleavage
of C5 (and therefore the formation of the membrane attack complex).
- It reduces intravascular hemolysis, hemoglobinuria, the need for transfusion
- Given IV every 2weeks
- Very expensive
3. Long-term anti-coagulant prophylaxis for patients with deep venous
thrombosis
4. Folic acid 3mg daily
5. Bone marrow transplantation

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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3 Illustrated Baby Nelson

Thalassemia
Definition: Autosomal recessive disorders due to defective globin chain production
A. D thalassemia syndromes
— Impaired D chain production
— Due to deletion of one or more of the 4 D globin genes on chromosome 16
1. One gene missing o Silent carrier (Asymptomatic)
2. Two gene missing o D thalassemia trait
- Familial microcytic anemia ; commonly mistaken as iron deficiency
- Normal iron indices
- Normal Electrophoresis for age.
- Diagnosed by DNA analysis.
3. Three genes missing o Hemoglobin H disease
- Mild to moderate microcytic hemolytic anemia at birth
- Evidence of chronic hemolysis
- Electrophoresis shows: Hb H (4E chains).
4. Four genes missing o Fetal hydropes
- Severe intra uterine anemia and anemic heart failure
- Resulting in death in-utero or short after birth
- Electrophoresis shows: Dominant hemoglobin Bart (4 J globin chains )
with complete absence of normal fetal and adult hemoglobin

B. E-thalassemia syndromes
 Impaired E chains production
 Due to mutation of one or more of the 2 E globin genes on chromosome 11
A. One gene mutation o E thalassemia trait ( Heterozygous E-thalassemia)
 Microcytic anemia with no evidence of overt hemolysis
 Differentiated from iron deficiency anemia by
R Normal iron indices and Mentzer index <13
R Characteristic hemoglobin electrophoresis:
¾ Hb A2 up to 3-7% in over 90% of cases.(diagnostic)
¾ HbF up to 1-3% in only 50% of cases.
B. Two genes mutation o E thalassemia major
C. Thalassemia intermedia
- Due to a combination of homozygous mild E and D thalassemia
- Moderate anemia (Hb 7–10 g/dL) doesn’t require regular transfusions

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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E Thalassemia Major
(Cooley’s anemia)
The commonest chronic hemolytic anemia in Egypt & Mediterranean areas.
Pathophysiology
A. Impaired E chain production

p Production of Deposition of excess Compensatory

HbA (D2 E2) unmatched D chain production of other Hb
inside the RBCs o containing non Beta
hemolysis chains especially Hb F
(D2J2)

Anemia nHbF (nO2 affinity)

Tissue hypoxia

Compensatory increased RBCs production

Medullary hematopoiesis Extra medullary

hematopoiesis

Bone marrow expansion Splenomegaly (r

(Skeletal changes) hepatomegaly)
+ hypersplenism

B. Iron overload due to

- Chronic hemolysis.
- Enhanced iron absorption.
- Repeated blood transfusion.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Clinical picture
A. General features of chronic hemolytic anemia (see before)
 Manifestations start insidiously after the 6th month of age when switch from
J to E chain production usually normally occur.
 Classic features: Progressive anemia, jaundice ,thalassemic facies,and
organomegaly

B. Hemosiderosis o Iron deposition in:

Skin Pituitary
 Bronzed skin  Short stature
 Hypogonadism
Heart
 Restrictive cardiomyopathy
 Dysrhythmias Thyroid and parathyriod
 Heart failure  Hypothyroidism
 Hypoparathyriodism
Liver
 Liver cirrhosis
 Liver cell failure
 Hepatitis Gonads
 Hypogonadism
Pancreas
 Delayed puberty
1. Diabetes mellitus

C. Complications and causes of death

1. Heart failure
4. Hypersplenism :
R Pallor, purpura,
pyrexia, and
organomegaly
2. Liver cell failure R CBC: pancytopenia
R Bone marrow:
marrow hyperplasia ,
no malignant cells
3. Diabetic keto acidosis

5. Frequent blood transfusions carry risk of

blood bone infections e.g. HBV, HCV, AIDS, and CMV

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Investigations
a. For anemia o Low Hb% and Ht. value.
b. For chronic hemolysis “Hair on end”
 Unconjugated hyperbilirubinemia appearance
 Reticulocytosis (commonly <8%)
 Skull X-ray in children >3 years
c. For the cause
1- Blood film o hypochromic, microcytic anemia with target cells.
2- Alkaline denaturation (Apt) test o Hb F resist denaturation by alkali
3- Hemoglobin electrophoresis:
 Markedly raised Hb F (80-90%)
 Slightly raised Hb A2
 Absent or near absent Hb A
4- Prenatal diagnosis is possible by chorionic villous sampling (CVS)
d. For diagnosis of iron overload
 Serum iron and ferritin
 Cardiac / hepatic MRI*
 Liver biopsy*
 Liver iron by Superconducting Quantum Interference Device (SQUID)
Treatment
1. Chronic transfusion therapy
x Indications for initiation of regular red cell transfusions include:
 Hemoglobin level 7 g/dl (on at least 2 measurements)
 Poor growth
 Facial bone changes
x Aim: To keep pre transfusion Hb > 9.5- 10.5 gm/dl
x Dose: 10-15 ml/kg packed RBCs monthly.
x Benefits
 Allow normal growth and activity
 Decreases bone marrow activity o p skeletal changes.
 Decreases extra medullary hematopoiesis o p organomegaly.
2. Iron chelation therapy
x Often deferred until age 3 to 4 years.
x Indications:
 Cumulative transfusion load of 120 ml/kg or greater
 Serum ferritin level persistently >1,000 ng/ml
 Liver iron concentration .5–7 mg/g dry weight

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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x Drugs used
A. Desferroxamine (Desferal)
 Dose: 25-50 mg/kg/day
 Route: IV or by continuous SC pump for 10 hours, 5-6 nights per week.
 Side effect: anaphylaxis, deafness, cataract, retinal damage , yerssinia
sepsis and skeletal changes
 Ascorbic acid 200 mg daily enhance the chelating effect of Desferal
B. Recent Oral drugs
1. Deferiprone (Ferriprox)
 Dose : 75-100 mg/kg
 Value: Effective in Reducing cardiac iron overload.
 Side effects: Gastric upset ,neutropenia and agranylocytosis
2. Defrasirox (Exjade)
 As effective as desferal but oral with longer half life
 Once daily, 20-40 mg /kg
 Monitoring of liver enzymes and serum creatinine is essential
3. Supportive treatment
 Low iron diet
 Folic acid 1mg/day
 Endorcine support as necessary.
 Hepatitis A and B vaccine
4. Splenectomy
x Indications
A. Hypersplenism suggested by:
- Increasing need for transfusion by t 50% than usual for > 6 months.
- Annual PRBCs > 250 ml/kg/year in face of uncontrolled iron overload
- Severe leucopenia and / or thrombocytopenia (Pancytopenia)
B. Huge spleen with pain or pressure symptoms.
x When: Preferably after the 5th – 6th year
x Risk: Overwhelming sepsis (especially if done < 5 years)
x Precautions: See before
5. Other lines of treatment
– Hydroxyurea o Induction of Hb F o pUnmatched D chain accumulation
o p hemolysis (of limited value due to serious side effects).
– Stem cell transplantation o best for patient less than 17 years
– Gene therapy is under research
6. Genetic counseling

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Sickle Cell Disease

Etiology
ƒ Autosomal recessive disorder.
ƒ Due to single amino acid substitution in the number 6 position of the E-chains
(valine for glutamic) resulting in new Hb o HbS (D2E26glut. o D2E26val. = HbS).
Forms
ƒ Sickle cell Anemia; SCA o Hb SS ; homozygous
ƒ Sickle cell trait ; SCT o Hb AS ; heterozygous

Pathogenesis
HbS can’t withstand hypoxia

If exposed to low O2 tensions

HbS polymerize

RBCs distortion

Intra vascular sickling with subsequent

1. Aggregation o vascular occlusion

2. Trapping and hemolysis in reticulo endothelial system in the spleen & liver

Clinical picture
ƒ Common in negroes
ƒ Features of anemia
ƒ Features of chronic hemolysis Starting after the 6th month of age
ƒ Renal disorders o proteinuria, nephrotic syndrome, chronic renal failure.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Crisises
1. Aplastic
2. Hemolytic
3. Megaloblastic
4. Hyperhemolytic (as before)
5. Vaso occlusive crisis ( painful crisis)
ƒ Mechanism
 In vivo sickling o vascular occlusion o ischemia r infarction.
 Reduced Nitric Oxide bioavailability o vasoconstriction and platelet
activation
 WBCs counts are often elevated, adhere to endothelial cells and may
further trap sickled red cells, contributing to stasis
ƒ Precipitating factors
Fever, Acidosis, Dehydration, Infection & Hypoxia, exposure to cold
ƒ Clinically
Acute chest syndrome (ACS):
CNS ƒ Due to pulmonary emboli of
o Cerebrovascular stroke necrotic bone marrow (fat emboli)
o Retinopathy infection or pulmonary infarction
ƒ Clinical Presentation :
Myocardial infarction  Gradual or catastrophic.
 Severe respiratory distress
Renal infarction
 Chest pain, fever
o Hematuria
 Hypoxemia
o Chronic renal failure  CBC: Leucocytosis
Hand and foot syndrome:  CXR: Lung consolidation.
Ischemia of metacrapal &
Splenic infarctionso fibrosis o
metatarsal bones
shrinkingo autosplenectomy &
Avascular necrosis of bone hyposplenism
e.g. femoral head
Others e.g. leg ulcers, priapism
6. Splenic sequestration crisis
ƒ Sudden pooling of the blood in the spleen (r the liver)
ƒ Precipitated by dehydration
ƒ Occurs primarily in infants
Clinically
 Acute pallor and acute abdominal pain
 Massive splenomegaly
 Hypovolemic shock.
 'HFOLQHLQKHPRJORELQRI• g/dL from the patient's baseline hemoglobin;
reticulocytosis and a decrease in the platelet count may be present

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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7. Infectious crisis
ƒ Due to hyposplenism (popsonization)
ƒ Common organisms: usually encapsulated bacteria
ƒ Site
- Meningitis (Pneumococci & H. influenza)
- Pneumonia (Pneumococci)
- Osteomyelitis (Salmonella)
Investigations
1. For anemia o Low Hb% & Ht value.
2. For chronic hemolysis op RBCs survival & n erythropoiesis.
3. For the cause
a) Blood film:
 Detect sickle cells in peripheral blood. If not detected, sickling can be
enhanced by adding sodium metabisulfite (Sickling test).
 Howell–Jolly bodies (nuclear remnants) and Sub membranous pits in
RBCs may be seen indicating hyposplenism.

b) Hemoglobin electrophoresis: Show HbSS (90%) & Hb F (2-10%).

c) Neonatal screening allows early detection , adequate care and longer
survival

Treatment
1. Avoid factors precipitating painful crisis e.g.
 Vigorous hydration during exposure to extreme stress
 Vigorous treatment of infections
2. Chronic transfusion therapy & iron chelation (Equivocal)
Indications:
- Stroke
- Recurrent painful crisis.
- Recurrent acute chest syndrome

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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3. Treatment of crises:
A. Vaso occlusive
 Oxygen
 Hydration ; oral and IV to maintain euvolemia
 Pain control e.g. ibuprofen, acetaminophen, codeine, or morphine
 Empirical antibiotics (cephalosporin and macrolide) for infections
 Simple transfusion target post transfusion hemoglobin ±10 g/dL
 Exchange transfusion program for recurrent cases
B. Sequestration
 Blood transfusion, typically 5 mL/kg of packed red blood cells
 Exchange transfusion
 Prophylactic splenectomy is the only effective strategy for preventing
future life-threatening episodes
C. Aplastic / hemolytic crisis o Blood transfusion
4. Control infection:
 Prophylactic penicillin for life
 Immunize against: Pneumococci & H. influenza
5. Alternative treatment
* Hydroxyurea
Value
- Induction of Hb F (takes time so not suitable for acute therapy)
- Improve RBCs hydration
- The only effective drug proved to reduce the frequency of painful episodes
Dose: typical starting daily dose is 15-20 mg/kg
* Hematopoietic stem cell transplantation.

Sickle cell trait (Hb AS)

ƒ Hemoglobin analysis shows Hb A, typically >50% and (Hb S <50%)
ƒ Asymptomatic but complications do exist e.g.
R Sudden death during rigorous exercise
R Splenic infarcts at high altitude
R Hematuria
R Bacteriuria
R Susceptibility to eye injury with formation of a hyphema
R Susceptibility to renal medullary cancer
ƒ Patients are resistant to lethal effects of falciparum malaria

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Auto Immune Hemolytic Anemia (AIHA)

Definition
Hemolytic anemia due to circulating antibodies against patients own RBCs.
Explanation
- Altered immune response (not recognize self-antigens).
- Altered RBCs antigenicity by infection or drugs.
Clinical types: According to the type of auto antibodies
Causes Warm reactive autoantibodies Cold reactive autoantibodies

Primary  50 % are idiopathic  Idiopathic

Secondary
ƒ Infection  CMV, HBV  Mycoplasma pneumonia
 Infectious mononucleosis
ƒ Vaccination  MMR

ƒ Disease  Leukemia/ Lymphoma.  Lymphoma

 SLE

ƒ Drugs  Methyle Dopa, penicillin,

interferon
Criteria of - IgG. - IgM
Antibodies - Active at 37qC - Active at below 37qC
Clinical picture
1. AIHA due to warm reactive autoantibodies
A. Acute transient type B. Chronic type
 Acute hemolytic anemia with  Chronic hemolytic anemia.
splenomegaly.  In child < 2 or > 12 years
 In child 2-12 year.  May be underlying systemic disease
 May follow respiratory infection. e.g. lymphoma.
 Responsive to steroids  Variable response to steroids.
 Lasting 3-6 months  Last months and years

2. AIHA due to cold reactive autoantibodies (cryopathic hemolytic syndromes)

A. Cold agglutinin disease

ƒ Cold reacting auto antibodies may present in low titer
ƒ Exposure to triggering agent e.g. Infection with mycoplasma
ƒ Increased auto antibody titer
ƒ Eventual chronic hemolytic anemia

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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B. Paroxysmal cold hemoglobinuria
ƒ Due to Donath Landsteiner antibody (IgG which can activate
complement)
ƒ Antibodies are biphasic, reacting with red cells in the cold in the
peripheral circulation, with lysis occurring due to complement activation
when the cells return to the central circulation.
ƒ The lytic reaction is demonstrated in vitro by incubating the patient’s red
cells & Serum at 4°C and then warming the mixture to 37°C (Donath–
Landsteiner test)
ƒ Association:
 Infection with mycoplasma, Ebstein Barr virus, Cytomegalo
virus, measles, mumps or chickenpox
 Congenital or acquired syphilis.
ƒ Course: Mild, resolve with infection resolution.
Investigations
x For anemia o Low Hb % & p Ht value.
x For acute hemolysis (see before)
x For chronic hemolysis (see before)
x For the cause.
1. CBC :
- Micro spherocytes.
- AIHA plus autoimmune thrombocytopenia o Evan’s Syndrome.
2. Positive Coombs test (Antiglobulin test)
- Direct: Detects high titer of autoantibodies coating the RBCs
- Indirect: Detects the free autoantibodies in patient serum
Treatment
A. AIHA due to warm antibodies
1. Mild and asymptomatic anemia needs only follow up
2. Treatment of symptomatic anemia
Prednisolone Splenectomy For refractory cases
 2 mg/kg If there is no  Anti-CD20
 4- 6 mg/kg for profound response to steroids (Rituximab)
hemolysis  I.VIG
 Reduce destruction of  Plasmapharesis
antibody-coated cells

B. Cold agglutinin disease

* Patients should avoid exposure to cold.
* Steroids and splenectomy are usually ineffective.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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* Anti-CD20 (Rituximab) has been successful in some cases.

* Plasmapharesis: for severe cases.
C. Supportive care
* Treat the underlying cause
* Blood transfusion:
ƒ Value  Life saving for severe anemia
ƒ Problem  Compatibility testing is complicated by the
presence of unspecific red cell autoantibodies
ƒ Use  Small volume of packed RBCs starting with a
test dose
 Use the least incompatible blood
ƒ Disadvantage  Hard to find totally compatible blood.
 Transient effect

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Approach to a Case of Anemia

A. History
1. Onset
 G6PD, spherocytosis can present from
neonatal period
 Thalassemia, sickle cell anemia present
> 6 month
2. Past history
 Hemorrhage
 Drugs which may induce (aplasia,
acute hemolysis in G6PD deficiency).
 Infection or fava beans o G6PD
deficiency.
3. Family history ofor similar cases and consanguinity for inherited causes.

B. Clinical approach : Search for clinical clues of :

1. Bone marrow failure ( Pallor, Purpura, Pyrexia ± organomegaly)

+ +

2. Acute hemolytic anemia

OR +

Triggers Acute pallor/jaundice Dark urine

3. Chronic hemolytic anemia

Gradual pallor/jaundice Organomegaly Complications

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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4. Anemia with congenital anomalies:

Fanconi anemia. Diamond Blackfan anemia.

5. Anemia with systemic associations

GIT upset (Folic acid deficiency) Neuropathy (B12 deficiency)

C. Laboratory approach
1. Is it anemia? o Ļ+E Ļ+WYDOXH
2. Is there bone marrow failure?

Features Consider Workup

 Anemia - Aplastic anemia - Blood film for
 Thrombocytopenia
- Leukemia abnormal cells
 Leucopenia or increased
WBCs - Bone marrow infiltration - BM examination
- 'RQ¶Wforget hypersplenism

3. Is it microcytic anemia?
Workup
Features - Iron indices ( diagnose iron deficiency and anemia
 MCV < 70 fl of chronic illness)
 MCH < 27 pg
 MCHC < 30% - Blood film for basophilic stippling
- Hemoglobin electrophoresis for thalassemia
- Bone marrow examination for ringed sideroblasts
- Serum lead level

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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4. Is it macrocytic anemia?
Features : MCV > 85 fl
Causes
ƒ Folic acid and B12 deficiency
ƒ Other causes:
 Aplastic or hypoplastic anemia
 Hepatic disease
 Hypothyroidism
 Drugs: antifolate, cytotoxics

Workup: Consider Serum folic acid and B12 assays and Schilling tests

5. Is it hemolytic anemia?
x Is there increased red cell breakdown?
- Anemia
- nBilirubin: unconjugated, from hem breakdown
- nUrinary urobilinogen (no urinary conjugated bilirubin).
- nSerum lactic dehydrogenase (LDH), as released from the RBC
x Is there increased red cell production?
- Reticulocytosis
x Is the hemolysis mainly extra- or intravascular?
R Extravascular hemolysis may lead to splenic hypertrophy and
splenomegaly
R Features of intravascular hemolysis are:
- n Plasma hemoglobin
- p Haptoglobin & haemopexin(hemoglobin carriers).
- n Metheamalbumin
- n Unconjugated bilirubin, fecal and urinary urobilinogen
- Hemoglobinuria (and heamosiderinuria)
- n Serum LDH
Causes : See classification of anemia
Workup:
ƒ Positive Coomb’s test: Immune hemolytic anemia
ƒ Negative Coomb’s test : Other causes of hemolytic anemia:
Consider
 Osmotic fragility and autohemolysis tests
 Enzyme assays e.g. G6PD deficiency
 Blood film and sickling tests
 Electrophoresis

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Hemorrhagic disorders
Hemostasis is the mechanisms of stoppage of bleeding after injury of a blood
vessel
I. 1ry Hemostatic Mechanisms
a. Vascular factor
Role
 Reflex vasoconstriction at the site of
bleeding.
 Damaged endothelium release serotonin
and activate F XII
Assessment
 Bleeding time.
 Hess test
b. Platelets
Criteria
 Life span: 8-10 day
 Count: 150- 400.000 platelets per ml
 Mean platelet diameter: 1- 4 PM
 Distribution: one third (30%) in the spleen; two-thirds in the bloodstream
 Controlled by thrombopeiotin
Role
1. Adhesion to exposed collagen fibers (Von Willbrand factor is essential).
2. Aggregation; platelets accumulate at injured site helped by adenosine
diphosphate (ADP) & thromboxane A2(TXA2)
3. Release of:
 Thromoxane A2 on platelet aggregation.
 Serotinin on vasoconstriction
 Platelet factor 3 (PF3) o enhance clotting
 Thrombasthinine on clot retraction.
4. Platelet plug formation
Assessment
ƒ Bleeding timeo normal = 4-8 min.
ƒ Hess test (capillary fragility test) o cuff of sphygmomanometer is
inflated between systole & diastole for 5 min.o if > 5 petechiae appear
within 5 cm circle in the forearm o +ve test.
ƒ Platelet count (N = 150 – 400.000 /mm3)
ƒ Platelet function tests whenever thromocytopathy is suspected
- Assess platelet adhesiveness and aggregation.
- Assay of PF3 level.
- Clot retraction test.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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II. Coagulation factors
Criteria
ƒ Most coagulation factors are formed in the liver and circulate in an inactive
form (Pro coagulants) which are activated in a cascade manner
ƒ Vitamin K dependent factors o II, VII, IX, X.
ƒ Most activation reactions occurred on the surface of the platelets
ƒ Calcium is a cofactor for many steps of activation cascade ;particularly the
common pathway
Activation cascade
Intrinsic pathway Extrinsic pathway

Damaged surface (exposed collagen) Trauma

Tissue
Kininogen thromboplastin
Kallikrein

XII XIIa VIIa VII

XI XIa

IX IXa

VII VIIIa

Common pathway

X Xa X
Platelet factor 3 Platelet factor 3
Calcium ,Factor V Calcium ,Factor V

Prothrombin Thrombin

Thrombasthenin XIIIa

Stable clot Fibrin polymers Fibrin monomers Fibrinogen

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Coagulation factors names

I Fibrinogen II Prothrombin
III Tissue thromboplastin IV Calcium
V Labile factor VII Stable factor
VIII Anti-hemophilic factor IX Chrismas factor
X Stuart Prower factor XI Plasma thromboplastin antecedent
XII Hageman factor XIII Fibrin stabilizing factor
Others : High Molecular Weight Kinonogen , Kallekrein
Assessment:
1. Clotting time o normal = 8-12 min.
rough test o prolonged with defects in any phase
2. Thrombin time (TT) o normal = 15-20 Sec.
 Time needed to plasma to clot after addition of bovine thrombin
 Prolonged in fibrinogen deficiency.
3. Prothrombin time (PT) o normal = 12-14 Sec.
 Time needed to plasma to clot after addition of thromboplastin &
Calcium.
 Test extrinsic & common pathways.
4. Partial thromboplastin time (aPTT) o normal = 25-40 Sec.
 Time needed for plasma to clot after addition of kaolin, Calcium &
platelets.
 Test intrinsic & common pathways.
Interpretation
Defect in PT PTT Specific
Common pathway Prolonged Prolonged
(X,V,II,I)
Extrinsic pathway Prolonged Normal Specific factor assay
(VII)
Intrinsic pathway Normal Prolonged
(XII,XI,IX,VIII)
N.B: Prolonged both PT & PTT also occur in multiple factors deficiency e.g.
 Liver cell failure
 Vitamin K deficiency
 Disseminated Intra vascular Coagulation (DIC)
5. Specific tests e.g. Von Willbrand disease:
 Prolonged both bleeding time and clotting time
 Decreased both F VIIIc & F VIIIa
 Von Willbrand factor assay

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Control of coagulation factors

1. Natural coagulation inhibitors
Value: localizes thrombosis to the site of injury.
a. Antithrombin (AT)
- Potent inhibitor of factors XIa, IXa, Xa, and thrombin.
- Its action is greatly potentiated by heparin.
b. Activated protein C
- Vitamin K dependent protein
- Activated by thrombin
- Activated protein C inactivates factor V and factor VIII
c. Protein S
- This is a cofactor for protein C

2. Fibrinolytic system: (Fibrinolysis)

 Plasmin is generated from its inactive precursor plasminogen
 This is achieved principally via tissue plasminogen activator (t-PA) released
from endothelial cells.
 Some plasminogen activation may also be promoted by urokinase, produced
in the kidneys (u-PA).
 Plasmin breaks down fibrinogen and fibrin into fragments X, Y, D and E,
collectively known as fibrin (and fibrinogen) degradation products (FDPs).
 D-dimer is produced when cross-linked fibrin is degraded.
 Fibrinolysis helps to restore vessel patency after vascular damage.

Plasminogen activators (t-PA ,u-PA)

F XIIa and FVIIa

Plasminogen Plasmin

Fibrin Fibrin degradation products

Fibrin cross links products(D-Dimer)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Purpura
Definition: Group of disorders characterized by:
1- Multiple, spontaneous hemorrhages in the skin and mucous membranes.
2- Range from pin point (petechiae) to several centimeters (ecchymosis)
3- Petechiae are purple in color, not elevated, do not blanch on pressure, not pruritic
Possible bleeding sites:
 Skin: petechiae, ecchymosis
 Mucous membranes: oral, gingival, conjunctiva,..
 Orificial: epistaxis, hemoptysis, hematuria, melena..
 Internal: intracranial, retinal, pleural, pericardial,..
Causes
I. Non thrombocytopenic purpura: (Normal platelet count)
1. Vascular purpura
a. Hereditary: e.g.
Ehler Danlos Syndrome
ƒ Defect in type III collagen in
connective tissue.
ƒ Clinical picture
 Hypermobile joints
 Purpura
b. Acquired
Vasculitis
ƒ Henoch schonlein purpura
ƒ Sepsis (meningeococcal).
ƒ Infective endocarditis
Weak blood vessels
ƒ Scurvy o defective connective tissue collagen.
ƒ Cushing syndrome
2. Thrombasthenia (Platelet dysfunction; Thrombocytopathy)
a. Hereditary thrombocytopathy
ƒ Defective adhesion: Von Willbrand disease , Bernard Soulier disease
ƒ Defective aggregation: Glanzmann disease.
b. Acquired
ƒ Uremia (Renal failure)
ƒ Cholemia (Liver failure)
ƒ Drug induced: Aspirin (p ADP & Thromboxan A2),Heparin
ƒ Autoimmune: SLE

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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II. Thrombocytopenic purpura

Defined as platelet count <100.000/mm3
A. Decreased production
With decreased marrow megakaryocytes
I. Congenital
1. Fanconi anemia
2. Thrombocytopenia absent radii (TAR)syndrome
 Thrombocytopenia
 Absent or hypoplastic radii
 Other associated anomalies e.g. congenital heart disease

3. Wiskott – Aldrich syndrome

 Sex linked recessive disorder
 Microthrombocytopenia
 Infantile eczema and bloody diarrhea are the commonest presentation
 Combined immunodeficiency

Petechiae due to Eczema Pneumonia and other

thrombocytopenia infections

II. Acquired
1. Aplastic anemia
2. Bone marrow infiltration (e.g. Leukemia).
3. Advanced megaloblastic anemia

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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B. Increased destruction
With compensatory increased marrow megakaryocytes
I. Immunologic
ƒ Primary : Idiopathic thrombocytopenic purpura
ƒ Secondary to
 Immunologic diseases e.g. SLE
 Post transfusion purpura
 Drug induced e.g. Heparin, Phenytion
 Malignancy e.g. Lymphoma
II. Non immunologic
ƒ Microangiopathic hemolytic anemia e.g. DIC, hemolytic uremic
syndrome.
ƒ Hypersplenism.
ƒ Acute infections, Sepsis.
ƒ Thrombotic thrombocytopenic purpura
ƒ Kasabach-Merritt syndrome (KMS):

 Combination of giant cavernous hemangioma, thrombocytopenia,

and coagulopathy
 Platelets are trapped and destroyed in the giant cavernous
hemangioma
 Frequently associated with disseminated intra vascular coagulation
 Treatment : steroids ,interferon, surgical ligation of feeding vessels

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Idiopathic Thrombocytopenic Purpura (ITP)

(Immune Thrombocytopenic Purpura
Definition: Purpura characterized by:
- Shortened platelets survival due to antiplatelet antibodies
- Thrombocytopenia (< 100.000 /mm3).
- Increased bone marrow megakaryocytes.
- Absent other identifiable thrombocytopenic disorders (a diagnosis of exclusion).
Pathophysiology
 Anti-platelets antibodies triggered by preceding viral infection
 Antibodies coated platelets is trapped in the spleen by macrophage Fc receptors
 Spleen is the primary site for antibody production and platelets destruction.
Clinical picture
Incidence
- Age: peak between 1 – 4 years
- Sex incidence: Equal
Acute purpura
R The classic presentation of ITP is a previously healthy 1-4 yr old child who
has sudden onset of generalized petechiae and purpura.
R The parents often state that the child was fine yesterday and now is covered
with bruises and purple dots.
R Often there is bleeding from the gums and mucous membranes, particularly
with profound thrombocytopenia (platelet count <10 × 109/L).
R There is a history of a preceding viral infection 1-4 wk before the onset of
thrombocytopenia in 50-60% of patients.

Important exclusions

1. No significant
organomegaly ;however
tip of the spleen is
palpable in 10 % of
cases

2. No significant pallor
except with severe
bleeding or associated
autoimmune hemolytic
anemia (Evans
syndrome)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Clinical classification of bleeding severity
1 No symptoms
2 Mild symptoms:
 Bruising and petechiae
 Occasional minor epistaxis
 Very little interference with daily living
3 Moderate:
 More severe skin and mucosal lesions
 More troublesome epistaxis and menorrhagia
4 Severe:
 Bleeding episodes: menorrhagia, epistaxis, melena—requiring
transfusion or hospitalization
 Symptoms interfering seriously with the quality of life
(Nelson textbook of pediatrics, 2016)
Diagnosis
ƒ Isolated thrombocytopenia in healthy child with normal blood smear
ƒ Blood smear:
- Platelet count o always < 100.000 / mm3; platelets usually large sized
- Normal WBCs and RBCs (except in Evans and severe bleeds); no abnormal
cells
ƒ Bone marrow examination
- Increased numbers of megakaryocytes, many of which appear immature
- Normal myeloid and erythroid cells
Indications for bone marrow examination include
1. Abnormal WBC count or differential
2. Unexplained anemia
3. History and physical examination suggestive of a bone marrow failure
syndrome or malignancy.
4. No response to supportive therapy and steroid therapy needs to be started

Blood smear Bone marrow smear

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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ƒ Other tests
 A direct Coombs should be done if there is unexplained anemia to rule out
Evans syndrome or before instituting therapy with IV anti-D.

 In adolescents, an antinuclear antibody test should be done to evaluate for

SLE.
 HIV studies should be done in at-risk populations, especially sexually active
teens.
 Platelet antibody testing is seldom useful in acute ITP.
Prognosis
 Spontaneous resolution occurs in 80 % of children with acute ITP within
6 mo.
 About 20% of children with acute ITP go on to have chronic ITP.
 Fewer than 1% of patients develop an intracranial hemorrhage
 Therapy does not appear to affect the natural history of the illness. There is
no evidence that therapy prevents serious bleeding.
 The prognosis may be related more to age, as ITP in younger children is
more likely to resolve whereas the development of chronic ITP in
adolescents approaches 50%.
Differential Diagnosis
From other causes of purpura :
ITP BM aplasia BM infiltration Hypersplenism
Clinical  Isolated  Purpura  Purpura  Purpura
purpura in  Pallor  Pallor  Pallor
clinically  Pyrexia  Pyrexia  Pyrexia
well child  No organomegaly  Organomegaly  Splenomegaly
Blood film  pPlatelets  Pancytopenia  Pancytopenia  Pancytopenia
Bone  Megakaryocyte  Hypoplastic  Infiltrated  Hyperplastic
Marrow hyperplasia

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Treatment of ITP
I. No therapy (Observation)
x For patients with minimal, mild, and moderate symptoms
x Education and counseling of the family about benign nature of ITP
x Avoid trauma, aspirin, contact sports.
II. Drug therapy
- Indicated for significant bleeding with platelet counts below 20 × 109/L
- Aim : to raise platelets above theoretically safe level >20 × 109/L
1. Prednisone
ƒ Decrease platelet antibodies production and phagocytosis of antibody coated platelets
ƒ Standard dose: 2 mg /kg/day for 21 days o gradually tapered
ƒ High dose :4 mg / kg/day for 4 days o less steriod side effects
ƒ Two thirds will respond but relapse is common
 Standard dose : response in 1 week
 High dose : platelets > 20× 109/L in 2 days , platelets > 50× 109/L in 3-4 days
4. Rituximab*
Anti-platelets
Auto anti-bodies 5.splenectomy*
Auto reactive B CD 20 Pre B
lymphocytes lymphocytes
Spleen

Macrophages
With Fc receptors
Trapping antibody coated
platelets

2. Intravenous Immunoglobulin (IVIG) 3. intravenous anti D (Win Rho)

 Block macrophage Fc receptors o ƒ Coat Rh positive RBCs o RBC-antibody
protect platelets from destruction complexes bind to macrophage Fc receptors o
 Dose : 0.8-1 gm/kg for 1- 2 days platelet escape destruction with transient mild
 Induces a rapid rise in platelet hemolysis (Patient must be unsplenctomized, Rh
count (usually >20 × 109/L) in positive , with Hb > 9 gm/dl)
95% of patients within 2 days ƒ Should not be used with IVIG
 Very useful in serious bleeding or ƒ Dose : 50-75 μg/kg
urgent surgery ƒ Causes a rise in platelet count to >20 × 109/L in
85% of patients within 48-72 hr

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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* Splenectomy
Indications - Severe ITP with life threatening bleeding unresponsive to
steroids and intravenous immunoglobulin
- A second line therapy for Chronic ITP uncontrolled medically
Response - Two-thirds will achieve a normal platelet count
* Rituximab
Nature Anti CD20 monoclonal antibody
Role Deplete auto reactive B cells (mainly for chronic ITP)

Treatment of life threatening bleeding (e.g. intracranial hemorrhage):

1. Resuscitation (including blood transfusion if needed)
2. Platelet transfusion (especially if platelets count < 20.000/mm3).
* Have shorter life span but can be life saving in life threatening
hemorrhage or in case of emergency operation e.g. splenectomy
* Dose: 0.2 platelet units per kg as a bolus followed by continuous
infusion if required
3. I.V. immunoglobulin 1gm/kg/day for 2-3 days.
4. I.V. methyleprednisolone 30 mg / kg/day for three days
5. Emergency splenectomy (not usually recommended).
6. Recombinant human factor VIIa (Rhu VIIa)

7DNHKRPHPHVVDJHV
x There are no data showing that treatment affects
either short- or long-term clinical outcome of ITP
x Platelet transfusion in ITP is usually contraindicated
unless life-threatening bleeding is present
(Nelson Textbook Of Pediatrics, 2016 )

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Anaphylactoid Purpura (Henoch Schonlein Purpura)

Definition
x The commonest vasculitis of childhood
x Characterized by immunoglobulin (Ig) A deposition in the small vessels
mainly in the skin, joints, gastrointestinal tract, and kidney.
x Peak age incidence between 2-8 years ; more in males
x May follow drugs or upper respiratory viral or bacterial (sterptoccoci) infection
Clinical picture
1. Skin rash
 In 100 % of cases
 Skin lesions are usually symmetric and occur in gravity-dependent areas
(lower extremities) or on pressure points (buttocks and extensor surfaces)
 Start as palpable erythematous maculopapular rash then become purpuric
(petechiae).
 May be pruritic.
 Association: Non pitting angioedema of hands, feet, lips, scalp

Typical HSP rash Angio edema of dorsa of hands

2. Arthritis/arthralgia
 In 75 % of cases.
 Oligoarticular usually in large joints e.g. ankle & knee.
 Swollen, hot, tender, with limitation of movement.
 Usually resolves within 2 wk but can recur without residuals

Swollen ankles with typical HSP rash, and angio

edema of dorsa of feet

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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3. Gastro intestinal tract manifestations

ƒ In 80% of cases
ƒ Presentations
 Vomiting, diarrhea, paralytic ileus
 Bowel angina (postprandial abdominal pain, bloody diarrhea)
ƒ Complications
 Intussusception (? due to submucosal hematoma)
 Bowel infarction and perforation
4. Renal
Mainly Rarely
- Hematuria - Proteinuria
- Acute nephritis - Nephrotic syndrome.
- Normal renal function - Chronic renal disease develops in 1-2% of
children with HSP, and approximately 8% of
those with HSP nephritis go on to have end-
stage renal disease.
5. Others vascultic manifestations
ƒ Neurological o seizures, paresis.
ƒ Testis o Hemorrhage.
Diagnosis
¾ The diagnosis of HSP is a clinical one
¾ No laboratory finding is diagnostic of HSP
1. For purpura :
 Normal platelet count & function (may be thrombocytosis) .
 Normal coagulation profile.
2. For renal manifestations
 Urine analysis for o RBCs, RBCs casts, proteinuria
 Renal function tests
 Renal biopsy for renal insufficiency or heavy proteinuria
3. For gastro intestinal manifestations
 Stool analysis for gross or occult blood
 Abdominal ultrasound and/or abdominal CT for intussusception
4. Others
 Increased ESR and serum IgA
 Biopsies of skin and kidney
ƒ Can give diagnostic clue, particularly in atypical or severe cases
ƒ Shows characteristic leukocytoclastic vasculitis with intramural
granulocytes in small arterioles and/or venules with deposits of IgA

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Treatment
1. Symptomatic and supportive care e.g. bed rest for joint pain
2. Medications :
ƒ Anti-inflammatory medicines e.g. ibuprofen or painkillers e.g. paracetamol
may help relieve some of the joint pain
ƒ Empiric use of prednisone (1 mg/kg/day for 1 to 2 wk, followed by taper)
ƒ Evidence exist to support use of steroids for bowel angina(Reduces
abdominal pain) and neurological manifestations
ƒ It does not alter overall prognosis nor prevent renal disease
3. Follow up
It is recommended that children with HSP undergo serial monitoring of
blood pressure and urinalyses for 6 mo after diagnosis, especially those who
presented with hypertension or urinary abnormalities.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Coagulation Disorders
A. Hereditary
1. Intrinsic pathway disorders:
- Factor VIII deficiency (Hemophilia A)
- Factor IX deficiency (Hemophilia B or Christmas disease).
- Factor XI deficiency (Hemophilia C).
- Factor XII deficiency
- Von Willbrand disease (Vascular hemophilia) Ÿ commonest disorder.

2. Extrinsic pathway disorders

- Factor VII deficiency

3. Common pathway disorders:

- Factors II, X deficiency
- Factors V (Para Hemophilia)
- Fibrinogen deficiency:
- Congenital afibrinogenaemia.
- Congenital dysfibrinogenaemia
- Factor XIII deficiency
B. Acquired
1- Vitamin K deficiency
* Hemorrhagic disease of newborn: see neonatology
* Vitamin k malabsorption due to:
- Biliary atresia / obstruction
- Fat malabsorption e.g. celiac disease,
* Vitamin K antagonists
2- Liver cell failure
3- Disseminated intravascular coagulation (DIC).
4- Others:
- Massive transfusion syndrome
- Medications: heparin , thrombolytics , L-Asparginase
- Inhibitors of coagulation due to:
a. Hemphelia inhibitors
b. Auto immunes diseases : SLE , rheumatoid arthritis

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Hemophelia A (classic hemophelia)

Definition
 Sex-linked recessive coagulation defect due to deficiency of factor VIII-C
 20% of cases are new mutations.
 Hemophilia A represents 80% of all hemophiliacs
Pathophysiology
ƒ Factor VIII-C is synthesized by the liver and reticuloendothelial system
ƒ In plasma, factor VIII-C is stabilized and protected from degradation by Von
Willebrand factor(vWF) protein
ƒ In the presence of normal vWF, the half-life of factor VIII-C is
approximately 12 hours, whereas in the absence of vWF, the half-life of
factor VIII-C is reduced to 2 hours

(Illustrated peadiatrics ,Tom Lissauer )

Pattern of deficiency
- Hemostatic level of F VIII-C is >30- 40U/L (30-40%); below which bleeding occur
- Plasma level of Factor VIII-C in carrier females is between 30-50 %
Clinical picture
Severity of bleeding episode is dependent on the plasma level of factor VIII-C and the
severity of trauma
Severe disease Moderate disease Mild disease
F VIII-C < 1% 1-5% 5-25%
Bleeding Bleed Bleed with minor Bleed with severe
trigger spontaneously trauma trauma

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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1. In neonate
Unusual bleeding from the
circumcision site or umbilical stump

2. External bleeding
e.g.
 Epistaxis
 Dental /mouth bleeding
 GIT bleeding
 Hematuria

3. Skin bleeding
 Easy bruising
 Ecchymotic patches
 Hematomas
 No petechaie

4. Hemarthrosis
 The hallmark of hemophilia A and B
 Affects mainly the big joints of the
lower limbs
 Affected joint become swollen, red,
hot, and tender with limited mobility
 Tend to be recurrent
 Recurrent hemarthrosiso joint
fibrosis / ankylosis & muscle atrophy

5. Internal bleeding
e.g.
 Muscle hematoma
 Intracranial
 Retroperitoneal
 Hemothorax

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Investigations
1. For diagnosis

Prolonged Normal
Clotting time Bleeding time

Prolonged aPTT Normal PT

 
F VIII-C assay o Low (Diagnostic)

2. For carrier detection

 Direct F VIII-C gene mutation analysis.
3. For prenatal diagnosis
 Chorionic villous sample or amniocentesis and gene mutation analysis.
 Fetal blood sampling o immunoradiometric assay of F VIII-C antigen
Treatment
1. Primary prophylaxis
ƒ Regular F VIII replacement 20 unit/kg 3 times a week
ƒ The National Hemophilia Foundation recommends prophylaxis for children
with severe hemophilia to reduce frequency of bleeding episodes. Usually,
such programs are initiated with the first joint hemorrhage.
ƒ Hepatitis B and A vaccination.
ƒ Avoid trauma, I.M. injections & aspirin.

2. During bleeding episodes/peri operative

a. Factor VIII replacement
1. IV infusion recombinant factor VIII Ÿ dose is according to site & severity
 Minor bleeding: the factor VIII level should be raised to 20–30 IU/dL.
 Severe bleeding: the factor VIII should be raised to at least 50 IU/dL.
 Major surgery: the factor VIII should be raised to 100 IU/dL
preoperatively and maintained above 50 IU/dL until healing occurred.
2. Others e.g.
 Cryopreciptate
 Fresh frozen plasma

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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b. Ancillary therapy
a. Desmopressin
(D - amino- D - Arginine VasoPressin; DDAVP)
 Role: Increases F VIII level by 4 folds
 Alternative to recombinant F VIII in mild
bleeding in mild hemophelia
 Intra nasal or Intravenous (0.3 P gm /kg in 50
ml saline over 20 min)
b. Antifibrinolytics
 Role: inhibit fibrinolysis o stabilizes the clot
 Indication: - Adjuvant therapy to recombinant factor VIII in mucosal
bleeding (oral bleeding, or epistaxis) due to high fibrinolysins in saliva
 Avoided: - In urinary tract hemorrhages to avoid risk of intra renal clot
formation and obstructive uropathy
 Examples: Epsilon Amino Caproic Acid (EACA),Tranexamic acid
c. Special situations e.g.
F VIII dose (IU/kg) Other lines
Intra cranial 50 IU/kg / 8 hours Urgent hospitalization
hemorrhage Then / 12 hours for 8 days
Then / 24 hours for 7 days
Epistaxis and 25 IU/kg / day EACA 50 mg/kg/6hrs
oral bleeding For 1 week
Hematuria and 25- 50 IU/kg / 12 hours Followed by prednisone
Hemarthrosis* for 1-3 days short course for 3-5 days
*Hemarthrosis care include rest, immobilization, cold compresses and elevation
Complications of hemophilia
A. Due to bleeding
- Hemophilic arthropathyojoint stiffness & Muscle atrophy
- Severe intracranial hemorrhage.
- Severe blood losso hypovolemic shock
B. Complications of transfusion (See chronic transfusion in thalassemia )
C. Complications of factor VIII therapy
1. Hypersensitivity reactions
2. Factor VIII inhibitors (Antibodies)
ƒ Develop in about 5-10 %
ƒ Hemorrhage become refractory to treatment
ƒ Inhibitors (measured by Bethesda Units) should be screened for annually

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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ƒ Treatment options
Low responders High dose factor VIII
(< 5 Bethesda Units)
High responders 1. Prothrombin complex concentrate (contain
( >10 Bethesda Units) prothrombin, F VII, F IX, F X)
2. Recombinant activated factor VII (NovoSeven)
3. Immune tolerance induction: daily infusion of
the missing protein till inhibitors disappears
4. Rituximab (Anti CD -20)

Other hemophilias
Hemophelia B (Christmas disease)
 Factor IX deficiency.
 Incidence: 1 / 50.000(in contrast to hemophelia A which is 1 / 10.000)
 Sex-linked recessive disorder.
 As hemophelia A but milder.
 Treated by: Recombinant factor IX or factor IX concentrate given/24
hours.
 Prophylactic treatment: Recombinant factor IX twice a week.

Hemophelia C
 Factor XI deficiency.
 Autosomal recessive disorder so can affect both sexes.
 Very mild disease.
 Treated by fresh frozen plasma given / 48 hours.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Von Willebrand Disease; VWD (Vascular Hemophelia)

 Von Willebrand factor ( VWF) is a large multimeric glycoprotein

 Synthesized in megakaryocytes and endothelial cells
 Stored in platelet and endothelial cell
Functions :VWF is essential for
- Platelet adhesion to sub endothelial matrix after vascular damage
- Carrier for F VIII protecting it from proteolysis
Deficiency
R VWF deficiency results in: Platelet dysfunction and decrease plasma F VIII.
R Pattern of deficiency: low(type 1) or abnormal (type 2) or absent (type 3).
R Inherited mainly as autosomal dominant disorder
R Diagnosed more in women than in men
R The commonest hereditary bleeding disorder , and some reports suggest that
it is present in 1-2% of the general population
Clinical picture
 Mild bleeding: commonly mucocutaneous hemorrhage including skin
bruising, epistaxis, gum bleeding and menorrhagia.
 May be post operative bleeding
 Very rarely severe bleeding episodes or hemarthrosis (type 3)
Because VWF is an acute-phase protein, stress will increase its level. Thus,
patients may not bleed with procedures that incur major stress, such as
appendectomy and childbirth, but may bleed excessively at the time of
cosmetic or mucosal surgery (Nelson Textbook Of Pediatrics, 2016)

Investigations
A. Screening
 Long bleeding time + long PTT + Normal PT
 Normal results on screening tests do not preclude the diagnosis of VWD
B. Diagnostic
Note: if the history is suggestive of a mucocutaneous bleeding disorder, VWD
testing should be undertaken
Tests
1. Quantitative assay for VWF antigen
2. Testing for VWF activity (Ristocetin cofactor activity)
3. Determination of VWF structure (VWF multimers)
4. F VIII assay (F VIII decreases in some subtypes ;Type 2N vWD)
5. Platelet count And platelet adhesion test

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Treatment
1. Minor bleeds require no treatment
2. Desmopressin is effective especially in type 1(mainstay of treatment)
3. Antifibrinolytics (e.g EACA) o as adjuvant treatment in oral bleeding.
4. VWF replacement therapy
Indications
 For severe bleeding episodes.
 The only effective treatment in type 3.
Use
 Cryoprecipitate
 Fresh frozen plasma.
 Purified or recombinant VWF concentrates (containing no factor VIII)
may become available in the near future

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Disseminated Intravascular
 Coagulation (DIC)

Wide spread activation of clotting factors all over the body resulting in:
 Thrombosis and ischemia of different vessels.
 Consumption of coagulation factors o bleeding.
 Microangiopathic hemolytic anemia & thrombocytopenia.
Predisposing factors
 Severe tissue damage e.g. in shock, dehydration, burn, hyperthermia,
crush injury,ashyxia.
 Sepsis: meningeococcal, pneumococcal ,rickettsia, malaria, viral
 Snake bites
 Tumors e.g. AML, disseminated malignancy e.g. neuroblastoma
 Incompatible blood Transfusion
 Protein C deficiency; congenital or acquired with purpura fulminans
 Gastro intestinal causes e.g. fulminant hepatitis, pancreatitis, severe
inflammatory bowel disease
Clinical picture
 Manifestations of the cause.
 Bleeding first occurs from sites of venipuncture, ecchymosis , purpura.
 Thrombotic manifestations: gangrene in the skin, subcutaneous tissues,
extremities or renal infarction.
 Severe anemia o Shock
 May be multi organ system failure
Investigations(3C)
1. Investigations for the Cause
2. Coagulation profile:
 Defective all phases of coagulation ; prolonged PT , aPTT, thrombin
time, and low fibrinogen.
 Prolonged bleeding time
 Fibrinogen degradation products (FDPs, D-dimers) appear in the blood.
The D-dimer assay is as sensitive as the FDP test and more specific for
activation of coagulation and fibrinolysis.
3. CBC/blood smear:
 Anemia
 Fragmented and burr- and helmet-shaped
red blood cells (schistocytes)
 Thrombocytopenia

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Treatment
The 1st 2 steps in the treatment of DIC are the most critical:

1. Aggressive treatment the trigger that caused DIC and

2. Restore normal homeostasis by correcting the shock (fluids/blood
transfusion), acidosis, and hypoxia that usually complicate DIC.

3. Control of bleeding
 Platelet infusions for marked thrombocytopenia .
 Cryoprecipitate for hypofibrinogenemia.
 Fresh frozen plasma for replacement of other coagulation factors and
natural inhibitors.

4. Heparin use is controversial ; used only in:

 Purpura fulminans
 Chronic low grade DIC with giant heamangioma
 Severe ischemic manifestations.

Prognosis
Generally bad , primarily dependent on the outcome of the treatment of the primary
disease and prevention of end-organ damage

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Evaluation of a bleeding child

Is there an emergency?
* Does the patient need immediate resuscitation or senior help?
* Is the patient about to exsanguinate (shock, coma)?
* Is there hypovolemia (postural hypotension, oliguria)?
* Is there CNS bleeding (meningism, CNS, and retinal signs)?
* Is there an underlying condition that escalates this apparently minor bleeding
into an evolving catastrophe e.g .
- GIT bleeding in a jaundiced child (ie, coagulation factors already depleted)
- Bleeding in someone who is already anemic
History
Present history
 Age of onset: early in hereditary coagulaopathy hemophilia
 Site of bleeding: skin, mucosal or internal
 Duration of bleeding
 Outcome of bleeding
 Relation to trauma or viral respiratory infection
 Secondary cause eg drugs (warfarin), alcohol, liver disease, sepsis
 Severity of bleeding: is it spontaneous or traumatic
Past history: Drugs/ operations / transfusions
Family history: For similar cases or consanguinity
Menstrual history: For adolescent girls
Examination
* Purpura
 Multiple, spontaneous hemorrhages in the skin & mucous membranes.
 Range from pin point (petechiae) to several centimeters (ecchymosis)
* Coagulopathy
 Hematomas in deep structures e.g. muscle hematomas
 Extensive ecchymosis
 Hemarthrosis
– Associations
 Organ system failures
 Other systems involvement
 Underlying systemic disease
Workup
1. Complete blood count / blood film
2. For purpura (See before)
3. For coagulopathy: (See before)
4. For an etiology /association e.g. sepsis workup in DIC, renal function in HUS,....

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Leukemia
Definition
 Group of malignant diseases of hematopiotic cells in bone marrow
 Giving rise to uncontrolled clonal proliferation of cells
 With arrest of maturation at different stages
 With subsequent marrow failure.

Risk factors
The etiology of ALL is unknown, although several genetic and environmental
factors are associated with childhood leukemia
1- Genetic predisposition
2- Chromosomal anomalies e.g. Down
3- Chromosomal breakage disorders e.g. Fanconi anemia, Bloom syndrome, ataxia
telangiectasia
4- Immunodeficiency states
5- Ionizing irradiation which either diagnostic irradiation or therapeutic
6- Chemical carcinogens: Benzene, Pesticide, Alkylating agents.
7- Viral infections

Classification

Acute leukemia Chronic leukemia

p
- Chronic myeloid leukemia
Acute lymphoblastic Acute myeloid (Philadelphia chromosome +ve)
leukemia leukemia - Chronic lymphocytic leukemia
(75%) (20%)

Acute undifferentiated
Leukemia

Acute mixed
lineage leukemia

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Acute Lymphoblastic Leukemia (ALL)

Incidence
 Peak age = 2-5 years, more in boys than in girls in all ages.
 Among identical twins, the risk to the second twin if one develops leukemia is
greater than that in the general population
Classifications
1. Morphologic: (French – American – British) FAB classification.
L1 L2 L3
85 % 14 % 1%
 Small cell  Larger cell  Large cell
 Small cytoplasm  Larger cytoplasm  Vacuolated cytoplasm
 Best prognosis  Prominent nucleoli  Worst prognosis.
 Poor prognosis
2. Immunophenotyping
Classify ALL according to blast cell membrane & cytoplasmic markers.
1. Precursor B-cell ALL (CD10+ or common acute lymphoblastic leukemia
antigen [CALLA] positive)
 The commonest ALL: 85 %
 Best prognosis
2. T cell type
 Less common : 15 %
 Poor prognosis
3. B cell type(Burkitt type)
 least common : < 1%
 Worst prognosis
Clinical picture
I. The initial presentation of ALL
Usually is nonspecific and relatively brief.
 Anorexia, fatigue, malaise, and irritability
 Intermittent, low-grade fever.
 Bone or, less often, joint pain, particularly in the lower extremities, may be
present
II. Manifestations of bone marrow failure
 Anemia (erythriod cell infiltration, bleeding) o pallor
 Thrombocytopenia o purpura , ecchymosis , orificial bleeding.
 Granulocytopenia & granulocytic dysfunction o persistent infections
(bacterial, viral, fungal and protozoal) and persisting pyrexia

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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III. Manifestations of organ infiltration

 Generalized lymphadenopathy
 Hepatosplenomegaly (HSM)
 Respiratory distress can occur in patients with an obstructive airway
problem (wheezing) due to a large anterior mediastinal mass (e.g., in the
thymus or nodes). This problem is most typically seen in adolescent boys
with T-cell ALL.
 CNS leukemia: may manifest with:
- Raised intracranial tensiono headache, vomiting, coma or
- Focal lesion o fits, paresis, cranial nerve paralysis.
 Testis o painless swelling
 Kidneys o hematuria, renal failure
 Bone swellings (infiltration) / Arthritisolimping

Investigations
A. For diagnosis

1. CBC/Blood smear
- WBCs: o Count may be normal, low or high.
o Blood smear show leukemic blast cells , but absence of blasts
doesn’t exclude leukemia.
- Platelets: oThrombocytopenia
- RBCs: o Normocytic anemia.

2. Bone Marrow examination

- Increased cellularity; marrow is replaced by • 25% leukemic blasts cells ; all
are having malignant features
- Reduced erythroid and megakaryocytic cells

Blast cells must be subjected to:

1. Cytochemistry of blast cells show:
- Absent peroxidase positive granules
- Positive periodic acid schiff in clumps.
2. Immunophenotyping.
3. Cytogenetic studies
4. Immunoglobulin and T-cell receptor (TCR) gene re arrangement studies

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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B. To detect infilterations
 Lumbar puncture is done during workup ;approximately 5-10% show
leukemic spread to the CSF
 Brain MRI scan
 Chest X-ray:
Mediastinal mass often present in T -ALL

 Abdominal sonogram
 Bone survey for bone infiltration.
C. For planning therapy
 Biochemistry, serum uric acid, renal and liver biochemistry
 Cardiac function; ECG and Echocardiogram

Differential diagnosis
1. Infections
Disease Similarity to leukemia Exclusion from leukemia
 Typhoid  Prolonged unexplained fever  Blood culture /Serology
 Brucellosis  Absent blast cells
 Infectious  Fever  Absent blast cells
mononucleosis  Organomegaly  Monospot test
 Purpura  Positive IgM anti EBV
 Perussis  Fever  No organomegaly
 Leukemoid reaction (WBCs  WBCs are mature lymphocytes
count > 50.000/mm3 ).  Normal blood smear & BM
2. Hematologic /oncologic disorders
ITP BM Aplasia BM infiltration Hypersplenism
e.g. Neuroblastoma
Clinical  Isolated  Purpura  Purpura  Purpura
purpura in  Pallor  Pallor  Pallor
clinically  Pyrexia  Pyrexia  Pyrexia
well child  No organomegaly  Organomegaly  Splenomegaly
(Abdominal mass)
Blood  pPlatelets  Pancytopenia  Pancytopenia  Pancytopenia
film
Bone  Megakaryocyte  Hypoplastic  Infiltrated  Hyperplastic
Marrow hyperplasia  No blasts  Abnormal cells  No blasts
 No blasts

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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4. Rheumatologic disease e.g.
Rheumatic fever/Juvenile rheumatoid arthritis/SLE
 Cause fever and arthritis/limping
 Other specific clinical features & Lab workup for lupus
 Blood film and bone marrow exclude leukemia
5. Acute myeloid leukemia
 Myeloblasts have: - Peroxidase +ve granules.
 Positive PAS (diffuse reaction).
 Immunophenotyping.
 Cytogenetic studies
Prognosis
Prognostic factors
Clinical
ƒ Age
ƒ Sex
ƒ Leukemic burden
ƒ Response to therapy
Laboratory
ƒ Initial WBC count
ƒ Immunophenotyping
ƒ Cytogentics
Risk group Clinical features Molecular/genetic
features
Low risk  Rapid response to induction therapy  DNA index >1.6
 Age 2-10 years  Polypliody
 WCC < 50 x 109/L  t(12;21) or some
 Precursor B cell phenotype trisomies
 No central nervous disease
 No testicular disease
 C-ALL or L1
High risk  Induction failure ; > 4weeks to  Hypopliody
remission  Presence of t(9;22)
 Age > 10 years or t(4;11)
 High minimal residual disease
N.B: The single most important prognostic factor in ALL is the response to treatment

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Treatment of ALL
A. Supportive
1. Psychological & nutritional support
2. Control infections by
 Education of patients, relatives and staff
about hand washing and isolation facilities
and mouth care
 Anti-microbial protocols in case of fever
 Granulocyte colony stimulating factor (G-CSF)
Or
 Granulocyte Monocyte Colony Stimulating Factor (GM-CSF) for

granulocytopenia; < 500 cell /mm3

 Prophylactic treatment for Pneumocystis jiroveci pneumonia
3. Control bleeding by: Platelet transfusion if < 10-20 .000 / mm3
4. Control anemia by: Packed red cells if hemoglobin falls below 7 gm/dl.
5. Avoid tumor lysis syndrome
x High-count ALL (especially T-cell) and B-cell NHL (specifically
Burkitt lymphoma) have the potential for bulky disease – a high cell
mass, which will undergo lysis with treatment, resulting in the
intracellular contents of potassium, phosphate and nuclear debris being
released into the circulation
x Lymphoblast cells have four times the amount of phosphate compared to
normal white cells
x Uric acid crystals and phosphate (precipitating out with calcium)
crystals may cause acute renal failure and the following:
 Rise in urate
 Within 1-2 days; rise in phosphate with concomitant hypocalcaemia
 Then rapid development of hyperkalemia
Prevention
ƒ Treatment of hyperkalaemia
ƒ Hyperhydration: Intravenous fluids without added potassium
ƒ Alkalinaization prior to chemotherapy
ƒ Uric acid-lowering agents : Urate oxidase (Rasburicase) is the drug of
choice or Allopurinol
ƒ Dialysis or hemofiltration

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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B. Specific treatment

1. Induction of remission
Aim o Eradicate malignant cells in bone marrow (i.e. remission).
Duration o 4 weeks
Drugs  Vincristine weekly (IV)
 Prednisone daily (Oral)
 L-asparaginase (IM)
 CNS therapy ; see below.
 Daunomycin at weekly intervals for patients at higher risk
Criteria of remission: With this approach, 98% of patients are in remission
* Clinical o No organomegaly nor detectable extramedullary disease
* CBC o No blast cells in peripheral blood nor in the CSF
* BM o Balst cells < 5%; none are having frank malignant features
2. CNS prophylaxis (CNS therapy)
Target Patients who, at the time of diagnosis, have lymphoblasts in the
patients CSF and either an elevated CSF leukocyte count or physical signs
of CNS leukemia, such as cranial nerve palsy.
Aim Prevent later CNS relapsesoThe likelihood of later CNS relapse
is reduced to <5%.
Duration o 4 weeks
Drugs  Intrathecal methotrexate.
 A small percentage of patients with features that predict a high
risk of CNS relapse may receive irradiation to the brain
3. Consolidation and intensification phase
 Aim: Maintain remission and avoid relapse
 Many regimens provide 14-28 wk of multiagent therapy
 Drugs and schedules used vary depending on the risk group of the patient.
4. Maintenance phase of therapy
Aim oMaintain remission
Duration o Lasts for 2-3 yr, depending on the protocol used.
Drugs  Oral 6 mercaptopurine daily .
 Intravenous methotrexate weekly.
 Usually with intermittent doses of vincristine and corticosteroid.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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C. Bone marrow transplantation

Done in the first remission for high-risk patients such as those with the t(9;22)
translocation known as the Philadelphia chromosome or extreme hypodiploidy

Complications
A. Complications of chemotherapy
- Bone marrow depression o Pancytopenia.
- Vincristine o Neuritis.
- Methotrexate o Renal toxicity.
- Adriamycin o Cardiomyopathy.
B. Relapse
Defined by any of the following
a- More than 25% lymphoblasts in bone marrow
or
b- Leukemic cell infiltration in the CNS or the testis.
Possible causes
- Persistence of leukemic cells in hidden sites (CNS, testis)
- Drug resistance
Decision
- Intensive chemotherapy and bone marrow transplantation
- Local irradiation

Minimal Residual Disease (MRD)

R Patients in clinical remission can have minimal residual disease (MRD) that
can only be detected with specific molecular probes to translocations and
other DNA markers contained in leukemic cells or specialized flow
cytometry.
R MRD can be quantitative and can provide an estimate of the burden of
leukemic cells present in the marrow.
R Higher levels of MRD present at the end of induction suggest a poorer
prognosis and higher risk of subsequent relapse.
R MRD of 0.01-0.1% on the marrow on day 29 of induction is a significant
risk factor for shorter event-free survival for all risk categories, when
compared with patients with no MRD

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Acute Myeloid Leukemia (AML)
Other names: Acute Myeloblastic Leukemia, Acute non-lymphoblastic Leukemia
Risk factors
- Chromosomal anomalies e.g. Down, Fanconi anemia, Bloom syndrome.
- Anti neoplastic drugs.
FAB classification
M0 : Acute myeloblastic leukemia without differentiation
M1 : Acute myeloblastic leukemia with minimal maturation
M2 : Acute myeloblastic leukemia with maturation
M3 : Acute Pro myeloblastic leukemia
M4 : Acute Myelomonocytic leukemia
M5 : Acute Monocytic leukemia
M6 : Acute Erythroleukemia
M7 : Acute Megakaryocytic leukemia
Clinical picture
ƒ As ALL
ƒ Signs and symptoms that are uncommon in ALL, including
1. Subcutaneous nodules or “blueberry muffin” lesions (especially in infants)
2. Chloromas (discrete granulocytic masses):
 Typically are associated with the M2 with a t(8;21) translocation.
 Common sites : retro orbital (o proptosis),skin and epidural space.
3. Signs and laboratory findings of disseminated intravascular coagulation
(especially indicative of M3).
4. Infiltration of the gingiva (especially in M4 and M5 subtypes)

“Blueberry muffin” lesions Chloromas Gingival hypertrophy

Investigation:
ƒ As for ALL
ƒ Bone marrow show myeloblasts which have:
- Peroxidase positive granules.
- Positive PAS (diffuse reaction)
- Some have Auer Rods
ƒ Immunophenotyping and cytogenetic studies of blast cells

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Treatment
x Unlike ALL ; therapy for AML is
 Of shorter duration
 More intensive
 Profound bone marrow aplasia ( except for M3 subtype) is usually
necessary.
 Require more aggressive supportive care during the lengthy periods of
marrow suppression
 Overall outlook is less optimistic with survival rates reported of 50-70%
x Induction chemotherapy includes
 Commonly used regimens use cytarabine and an anthracycline
 In combination with other agents such as etoposide and/or thioguanine
x Hematopoietic stem cell transplantation
ƒ The treatment of choice for:
 High risk cases
 Refractory cases
 Relapsed case
ƒ Matched-sibling bone marrow or stem cell transplantation after remission
has been shown to achieve long-term disease-free survival in 60-70% of
patients
x Acute promyelocytic leukemia (FAB-M3)
Characterized by
 A fusion gene involving the retinoic acid receptor t(15;17)
 Very responsive to All-Trans-Retinoic Acid ; ATRA (Tretinoin)
combined with anthracyclines and cytarabine.
 ATRA allows maturation of the accumulated promyelocytes
 The success of this therapy makes marrow transplantation in first
remission unnecessary for patients with this disease.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Lymphoma

Definition
Malignant tumors of lymph nodes (LN) and extra nodal lymphoid tissue.
1- Hodgkin disease(HD): Mainly nodal disease
2- Non Hodgkin lymphoma(NHL): Mainly extra nodal disease
Incidence: 13 : million children

Hodgkin Disease

 B-lymphocyte malignancy.
 With characteristic Reed-Sternberg cells.
 Peak age o Bimodal; 15-30 and > 60 years ; rare before 5 years.
Histologic classification
Histologic type Incidence Criteria
1. Nodular sclerosing 50%  Good prognosis
 Females > males
 Mediastinal mass common
2. Mixed cellularity 40%  Present with more advanced disease
3. Lymphocyte 10%  Best prognosis
predominance
4. Lymphocyte depletion Very rare  Present with disseminated disease
type  Poor prognosis
Clinical picture
1. Lymphadenopathy (Variable size)

Sites Criteria Effects

- Cervical (75 %) - Painless - Mediastinal syndrome: cough, dyspnea,
- Supraclavicular - Rubbery dysphagia, & facial edema
- Mediastinal - Discrete - Mesenteric: - Abdominal mass.
- Mesentric - Later become - May be intestinal obstruction
matted and fixed

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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2. B Symptoms
 Unexplained intermittent fever (Pel-Ebstein fever).
 Night sweating requiring change of clothes.
 Unexplained loss of body weight > 10% in the last 6 months.
3. Other rare constitutional symptoms and extra nodal involvement
 Fatigue, pruritus, anorexia
 Splenomegaly with or without hepatomegaly.
 Bone marrow failure.
"Modified Ann – Arbor staging"
Based on radiograph and CT of chest, abdomen, and pelvis with or without bone
marrow biopsy.
I Confined to single lymph node region
II Involvement of two or more nodal areas on the same side of the
diaphragm
III Involvement of nodes on both sides of the diaphragm
IV Spread beyond the lymph nodes eg liver or bone marrow
Each stage is either
A : Absent of B symptoms
B : Presence of B symptoms
Investigations
A. For definitive diagnosis: Lymph node biopsy
B. For staging
ƒ Chest and abdominal CT scans is the investigation of choice for staging
ƒ Positron emission tomography (PET): Is increasingly being used for staging,
assessment of response and direction of therapy
C. Indicators of disease activity
ƒ ESR:is usually raised
ƒ Serum lactate dehydrogenase; raised level is adverse prognostic factor
D. Others
ƒ Chest X-raymay show mediastinal widening, with or without lung involvement
ƒ Liver biochemistryis often abnormal, with or without liver involvement.
ƒ Bone marrow aspirate and trephine biopsyseldom done but show
involvement in patients with advanced disease; this is unusual at initial
presentation (5%).

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Management
ƒ Treatment is determined largely by disease stage, presence or absence of B
symptoms, and the presence of bulky nodal disease.
ƒ Generally; treatment involves combined chemotherapy with or without low-
dose involved-field radiation therapy
ƒ The combination chemotherapy regimens in current use are based on:
 COPP (cyclophosphamide, vincristine [Oncovin], procarbazine, and
prednisone) Or ABVD (doxorubicin [Adriamycin], bleomycin,
vinblastine, and dacarbazine),
 For intermediate- and high-risk ; with the addition of prednisone,
cyclophosphamide, and etoposide (ABVE-PC and BEACOPP) or
BAVD (brentuximab vedotin, doxorubicin [Adriamycin], vincristine,
dacarbazine) in various combinations
ƒ Novel promising agents that target RS tumor cells:
 Anti- CD20 antibody (rituximab)
 Anti-CD30 agents (Brentuximab)
 Anti-CD30 antibody linked to the antimitotic agent monomethyl
auristatin E Brentuximab vedotin
 Generated EBV-specific cytotoxic T lymphocytes (CTLs)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Non-Hodgkin Lymphoma
Incidence
- 3 times common than Hodgkin in children
- Peak age around 3 years
- ƃƂUDWLR 
Aetiology
The cause is unknown.
ƒ Infective agents associated with development of NHL e.g. Ebstein Barr virus
(%XUNLWW¶VO\PSKRPD)
ƒ Diseases known to predispose to NHLs
 Congenital immunodeficiency states.
 Acquired immunodeficiency e.g. HIV infection
 Autoimmune disorders
 Familial cancer syndromes
WHO Classification
1. B cell lymphoma e.g.
 %XUNLWW¶VO\PSKRPDOHXNDHPLD
 Precursor B lymphoblastic lymphoma/leukaemia
2. T/NK cell lymphomas e.g.
 Precursor T cell lymphoblastic leukaemia/lymphoma
 Diffuse large B cell lymphoma
 Anaplastic lymphoma
Clinical features
i- Abdominal lymphoma (35%)
- Mainly B cell type; start in payer¶s patches, and mesenteric lymph nodes.
- Presentation:
1- Rapidly enlarging abdominal mass with abdominal pain.
2- May be: - Ascites.
- Hepatosplenomegaly
- Intussusception.
ii- Anterior mediastinal mass: (25%)
- Mainly T. cell type; starts in thymus.
- Presentation:
1- Mediastinal syndrome (cough, dyspnea, dysphagia, face edema).
2- May be: - Pleural effusion.
- Pericardial effusion.
iii- Others
- Painless lymphadenopathy
- Bone marrow infiltrationo pancytopenia (occur in advanced lymphoma).
- CNS infiltration, oropharyngeal involvement, weight loss, bone pain,fever

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Investigations
1. Biopsy & immunophenotyping & cytogenitic studies.
2. Cytological examination of ascitic fluid, pleural fluid, B.M
3. Chest X-ray, CT scansof chest, abdomen and pelvis.
4. PET and gallium scans help in staging.
5. Bone marrow aspirate and trephine biopsyare always performed
6. Other investigations as Hodgkin disease
N.B: Burkitt’s lymphoma

Nature: B-cell type.

Histology: Starry sky appearance
Cytogenetics: May be (t 8; 14).

Types Endemic Sporadic

Distribution African World wide
Age Children Young adults
Site Jaw, Ovary Abdomen, Marrow
Association with Ebstein Barr virus In > 97%. In < 30%.
Treatment
1. Supportive; especially for life threatening complications:
Complication Action
1. Upper airway obstruction by - Corticosteriods
mediastinal mass - Local radiation
2. Tumor lysis syndrome - Rasburicase
- Superhydration.
- Na bicarbonate
2. Surgery: Only for small, easily, totally resectable tumors.
3. Chemotherapy:
ƒ Protocols combining chemotherapy, Local radiation & CNS prophylaxis
ƒ Protocols differ according to staging (localized or advanced) and
Immunophenotyping. It includes:
- High dose methotrexate (2-3 gm/m2) I.V along with folonic acid
- Rituximab
- Targeted irradiation with Rituximab as a carrier
- Allogeneic hematopoietic stem cell transplantation (HSCT)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Wilms' Tumor
(Nephroblastoma)
ƒ Embryonic tumor of the developing kidney
ƒ Very good overall prognosis – in excess of 90% 5-year survival rate
ƒ 2nd common abdominal tumor
ƒ 6% of malignancies in children around 3 years.
ƒ Age: usually occurs in children < 5 ys .
Types
1. Sporadic form (common): Usually unilateral.
2. Familial form: Usually bilateral.
3. Associations:
A. Congenital anomalies: in 15 %;
- Genito-urinary anomalies.
- Congenital aniridia .
- Hemihypertrophy e.g. Beckwith–Wiedemann syndrome.
B. Syndromes:
- WAGR syndrome : Wilms’, aniridia, genito-urinary anomalies,
retardation.
- Denys-Drash syndrome: Wilms’tumor, renal disease, genital anomalies
Clinical picture
Presents in a well child with a painless (or minimal discomfort) abdominal mass,
and/or haematuria and/or hypertension (independently or collectively)
1. Abdominal mass (the commonest presentation):
- Never cross midline (enlarged vertically)
- Usually unilateral; Bilateral in 5-10%
- Association: Microscopic hematuria.
2. Hypertension :
- In 60 % of cases
- Due to Renin-producing tumor or renal ischemia.
3. Others: - Polycythemia: occasional .
- Metastasis e.g. Lungs (commonest) o cannon-ball lesions.
Investigations
i. Detect the tumor:
1. Abdominal ultrasonography.
2. Abdominal CT: - Exclude neuroblastoma.
- Evaluate contralateral kidney.
- Evaluate metastasis
- CT guided biopsy.
3.Others: - Urine analysis for hematuria
- Renal functions tests

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Staging: Based on operative findings
Stage Tumor extent
I  Limited to kidney & is completely excised
II  Extends beyond the kidney but is completely excised
III  Residual abdominal extension after surgery
IV  Hematogenous spread to lungs, liver, bone,…
V  Bilateral renal involvement at time of diagnosis
Differential diagnosis: Causes of abdominal mass
1. Neuroblastoma.
2. Hydronephrosis.
3. Renal cyst.
4. Others: Hypernephroma, Clear cell sarcoma
5. Mesoblastic nephroma
Treatment
1. Surgical: Radical nephrectomy
2. Chemotherapy
3. Radiotherapy

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Neuroblastoma
Characters
ƒ Aggressive embryonal tumor of the autonomic system, originating from neural
crest-derived sympathetic nerve cells in the adrenal gland & sympathetic
ganglia (Abdomen // Thoracic // Cervical)
ƒ Most common cancer diagnosed at age <1 year
ƒ It accounts 8-10% of all childhood malignancies.
ƒ Has the biological potential to involute and resolve spontaneously or behave
aggressively with widespread metastases/organ invasion
Staging
Stage
I - The tumor is confined to site of origin.
II - The tumor extend beyond site of origin but not cross midline
III - Localized tumor with contralateral regional lymph node
involvement.
IV - Metastatic disease .
IVs - Stage I or II + involvement of skin, liver and/or BM .
Clinical picture
Presenting symptoms are extremely variable
1. Abdominal mass (commonest)
- Origin o adrenal medulla or abdominal sympathetic chain.
- Hard with irregular surface
- Located in upper quadrant of abdomen
- May cross midline as it enlarges horizontally
- May be ascitis , hepatomegaly
2. Mediastinal or cervical mass
* Origin: Thoracic or cervical sympathetic chain.
* Manifestations:
- Mediastinal syndrome: see before
- Horner syndrome (unilateral ptosis, enophthalmos, meiosis &
anhydrosis).
3. Spinal cord compression
* Origin o sympathetic chain.
* Manifestations: - Localized back pain
- Paraplegia.
- Sphincteric dysfunction.
4. Metastatic neuroblastoma
- BM o pancytopenia.
- Orbito Proptosis with ecchymotic eye lids o Raccoon like appearance.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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5. Syndromes associated with Neuroblastoma
Eponym Features
Excessive catecholamine  Intermittent attacks of sweating, palpitation, hypertension
, flushing, polyuria & polydipsia
 Unilateral ptosis, myosis, and anhidrosis associated with a
Horner syndrome thoracic or cervical primary tumor.
 Symptoms do not resolve with tumor resection.
 Myoclonic jerking and random eye movement with or
without cerebellar ataxia.
 Often associated with a biologically favorable and
Opsoclonus-myoclonus-
differentiated tumor.
ataxia syndrome
 The condition is likely immune mediated, may not resolve
with tumor removal
 Often exhibits progressive neuropsychological sequelae.
 Intractable secretory diarrhea and hypokalemia due to
Kerner-Morrison
tumor secretion of vasointestinal peptides.
syndrome
 Tumors are generally biologically favorable.

Diagnosis
1. Detect origin of 1ry site (adrenal, sympathetic chain)
- Abdominal ultrasonography & CT.
- Chest x ray & CT.
- Biopsy
2. Urinary catecholamines: Vallinyl mandelic acid & Homovanillic acid

Treatment

ƒ The usual treatment for low-risk neuroblastoma is surgery for stages 1 and 2 and
observation for stage 4S with cure rates generally >90%
ƒ Stage 3 : Surgery , radiotherapy and chemotherapy .
ƒ Stage 4 : Radiotherapy or chemotherapy
ƒ Therapies currently under investigation : radiolabeled targeted agents (e.g.
MIBG), monoclonal antibodies (anti–tumor-associated GD2) combined with
growth factors (GM-CSF), and antitumor vaccines

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Lymphadenopathy
Causes
1. Nonspecific reactive hyperplasia
2. Infection
A. Bacterial: Staphylococcus, streptococcus, tuberculosis, atypical
mycobacteria, Bartonella henselae(cat scratch disease) brucellosis
B. Viral: Epstein–Barr virus, cytomegalovirus, rubella, rubeola
C. Protozoal: Toxoplasmosis, malaria
D. Spirochetal: Syphilis, rickettsia
E. Fungal: Histoplasmosis, cryptococcus, aspergillosis
3. Connective tissue disorders
A. Rheumatoid arthritis
B. Systemic lupus erythematosus
4. Hypersensitivity states e.g. Serum sickness
5. Lymphoproliferative disorders
6. Neoplastic diseases
A. Hodgkin and non-Hodgkin lymphomas
B. Leukemia
C. Metastatic disease from solid tumors: neuroblastoma, nasopharyngeal
carcinoma,
D. Histiocytosis
7. Storage diseases
A. Niemann–Pick disease
B. Gaucher disease
8. Immunodeficiency states
9. Miscellaneous causes
A. Kawasaki disease (mucocutaneous lymph node syndrome)
C. Sarcoidosis
E. Hyperthyroidism

Diagnosis
1. Thorough history of
- Infection
- Contact with rodents or cats
- Systemic complaints
2. Careful examination of the lymphadenopathy including
* All the lymph-node-bearing areas should be carefully examined
* Size, mobility, warmth, erythema, fluctuation & location.

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* Texture of lymph nodes:

- Consistency: soft, firm, rubbery, hard
- Discrete or matted
- Tender (in inflammation or rapid malignancy) or not
3. Physical examination for
* Draining area in localized adenopathy e.g.
- Ear, nose and throat in cervical adenopathy
- Occipital adenopathy in infections of scalp
- Preauricular adenopathy in conjunctivitis and cat scratch disease
* Evidence of hematologic disease, such as hepatosplenomegaly and petechiae
4. Workup
* Blood count
* Erythrocyte sedimentation rate (ESR)
* Skin testing for tuberculosis
* Bacteriologic culture of regional lesions (e.g., throat)
* Specific serologic tests for e.g. Epstein–Barr virus (EBV)
* Chest radiograph ± CT scan
* Abdominal sonogram ± CT
* LN Ultrasonography
* Lymph node aspiration and culture
* Bone marrow examination if leukemia or lymphoma is suspected
* Lymph node biopsy
Indications
- Initial physical examination and history suggest malignancy
- Lymph node size is greater than 2.5 cm in absence of signs of infection
- Lymph node persists or enlarges
- Appropriate antibiotics fail to shrink node within 2 weeks
- Supraclavicular adenopathy.
Precautions
- Upper cervical and inguinal areas should be avoided
- The largest node should be biopsied, not the most accessible one.
- The node should be removed intact with the capsule, not piecemeal

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Splenomegaly

* Spleen may normally be felt in children up to 3 or 4 years of age

* At an older age, the spleen tip is generally not palpable below the costal margin
and a palpable spleen usually indicates splenic enlargement two to three times its
normal size.

Causes of splenomegaly
I. Infectious splenomegaly
A. Bacterial: acute and chronic systemic infection, subacute bacterial
endocarditis, typhoid fever,and miliary tuberculosis
B. Viral: infectious mononucleosis (Epstein–Barr virus), cytomegalovirus,
hepatitis viruses
C. Spirochetal: Syphilis
E. Protozoal: malaria, toxoplasmosis, leishmaniasis, schistosomiasis,
trypanosomiasis
F. Fungal infections
II. Hematologic disorders
A. Hemolytic anemias
B. Extramedullary hematopoiesis as in osteopetrosis and myelofibrosis
C. Myeloproliferative disorders (e.g., polycythemia vera)
III. Infiltrative splenomegaly
A. Nonmalignant
1. Langerhans cell histiocytosis
2. Storage diseases such as Gaucher disease, Niemann–Pick disease,
amyloidosis and sarcoidosis
B. Malignant
1. Leukemia
2. Lymphoma
IV. Congestive splenomegaly: portal hypertension
B. Connective tissue disorders e.g.,
Systemic lupus erythematosus
Rheumatoid arthritis
VI. Primary splenic disorders
A. Cysts
B. Benign tumors (e.g., hemangioma, lymphangioma)
C. Hemorrhage in spleen (e.g., subcapsular hematoma)

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Acute Pharyngitis
It include acute tonsillitis, pharyngitis or tonsillopharyngitis
Causes
Viral or Bacterial (group A E hemolytic streptococci is the commonest.).

ƒ Red , congested throat

ƒ Inflamed tonsils with
Complaint white or yellow exudates
 Fever, anorexia ƒ Enlarged tender lymph
and malaise nodes on the front of the
 Sore throat neck
 Dysphagia ƒ Associations
 Conjunctivitis (Adeno
virus)
 Minute vesicles and
ulcers (Coxachie virus)
Complications
ƒ As that of scarlet fever +
ƒ Mesenteric adenitis (o abdominal pain).
Treatment
* Symptomatic for fever.
* Specific: e.g. 10 days course of antibiotic (5 days for Zithromax)
 Penicillin V
 Amoxicillin
 Cephalosporins
 Zithromax
 Clarithromycin
* Surgical:
ƒ A tonsillectomy, with or without adenoidectomy
ƒ Indications:
1. The most common indication for adenotonsillectomy is adenotonsillar
hypertrophy associated with obstructive sleep apnea
2. Recurrent tonsillitis defined as :
 Seven or more documented infections in 1 year
 Five per year for 2 years
 Or three per year for 3 years
3. Recurrent peritonsillar abscess
4. Multiple antibiotic allergies.

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Otitis Externa
“Swimmer’s ear”
ƒ Cellulitis of the soft tissues of the external auditory canal
ƒ Risk factors : trauma ,humidity, heat, and moisture in the ear

Essentials to diagnosis
ƒ Edema and erythema of the external auditory canal with debris or thick,
purulent discharge.
ƒ Severe ear pain, worsened by manipulation of the pinna.
ƒ Periauricular and cervical lymphadenopathy may be present

Management
 Pain control
 Removal of debris from the canal
 Topical antimicrobial therapy, Fluoroquinolone eardrops are the first-line
 Avoidance of causative factors

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Acute Otitis Media ( AOM)

Risk factors
Eustachian tube obstruction by adenoids or edema in upper respiratory infection
Others:Impaired host immune defenses, bottle feeding, genetic susceptibility
Causes
1. Viral; AOM is a known complication of bronchiolitis
2. Bacterial: mainly H. influenza , pneumococci, moraxilla catarrhalis
Clinical picture
ƒ Fever
ƒ Earache (irritability , rubbing the ears in infants)
ƒ Otoscopic examination:
 Drum is congested, bulging
 Middle ear effusion
 Drum may be perforated ± discharge.

Acute OM Severe acute OM Draining acute OM Resolving acute OM

ƒ Complications:
 Mastioditis: tender swelling behind the ear
 Chronic ear infection: draining ears for 14 days or more
Treatment
* Symptomatic for pain & fever: ibuprofen or acetaminophen
* Specific
ƒ Antibiotic or observation?
 For infants younger than 6 monthsĺ antibiotics are always
recommended on the first visit, regardless of diagnostic certainty
 For children •\HDUVZLWKXQFRPSOLFDWHGRWLWLVPHGLDZLWKRXW
otorrheaĺ optional 48 hours of observation
ƒ Antibiotics
 Amoxicillin-clavulanate enhanced strength ;ES (14:1 ratio of
amoxicillin: clavulanate), with amoxicillin dose 90 mg/kg/d for 10 days
 Alternatives: Ceftriaxone (injections for 3 days), Cefdinir, or
Cefpodoxime ĺThen, according to culture and sensitivity
ƒ Surgical :Tympanocentesis & drainage ± Tympanostomy tubes
ƒ Patients with tympanostomy tubes with acute otorrhea ĺototopical
antibiotics (fluoroquinolone eardrops) are first-line therapy

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Acute Sinusitis
ƒ The maxillary and ethmoid sinuses are most commonly involved. These
sinuses are present at birth.
ƒ Major risk factors: Upper respiratory tract infections and immunodeficiency
Causes
 As in otitis media
 Mixed infections
Clinical picture
* Fever and headache
* Purulent or mucopurulent nasal discharge & post nansal dischargeŸ cough
* Others:
- Nasal obstruction
- Halitosis (fetid breath odor)
- Diminished smell
- Periorbital edema
Investigations
 Culture and sensitivity of sinus aspirate
 Trans illumination test Ÿ opaque sinus
 Plain X ray skull
 CT skull
Treatment
ƒ Symptomatic for pain & fever (paracetamol)
ƒ Specific:
1. Antibiotics for a minimum of 10 days or 7 days after resolution of
symptoms:
ƒ High dose amoxicillin or amoxicillin/clavulanate
ƒ Alternatives
 Ceftriaxone
 Cefdinir , Cefpodoxime, Cefixime, Cefuroxime
ƒ Neither Zithromax nor Cotrimoxazole are recommended
2. Saline nasal washes or nasal sprays can help to liquefy secretions and act as
a mild vasoconstrictor
3. The use of decongestants, antihistamines, mucolytics, and intranasal
corticosteroids has not been adequately studied in children and is not
recommended for the treatment of acute uncomplicated bacterial sinusitis

ƒ Surgical = Sinuscopic sinus surgery for chronic cases

(Nelson Textbook of Pediatric)

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Stridor
Definition
Harsh, continuous inspiratory sound due to variable obstruction in upper airways
(larynx and trachea); may be associated with hoarseness of voice and respiratory
distress
Causes
Acute
Infectious Non infectious
* Viral:
 Laryngeotracheobronchitis  Laryngeal foreign body.
 Acute laryngitis.  Laryngeospasm(e.g. tetany).
 Spasmodic laryngitis.  Laryngeal edema(e.g. allergic)
* Bacterial:  Laryngeal compression.
 Acute epiglottitis.
 Acute tracheitis (staph. aureus).
 Diphteritic laryngitis.
Chronic
Congenital Acquired
ƒ Laryngeomalacia ƒ Laryngeal
ƒ Laryngeal web or cyst  Stenosis
ƒ Tracheomalacia  Tumors
ƒ Congenital vascular ring  Paralysis
ƒ Tracheal stenosis

Severity of Stridor / Croup

Mild Moderate Severe
Stridor ± + ++
Sternal tug - + ++
Recession - + ++
Accessory - + ++
muscles
Nasal flare - + ++
Cyanosis - - +
Drooling - - +
Air entry Normal Reduced Poor
Hydration Normal Normal/reduced Reduced
If the child does not object:
Saturation Normal Normal/reduced Reduced
Heart rate Normal Raised Raised (bradycardia is
pre-terminal event)
(Oxford Paediatric Emergency Medicine)

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Acute Infectious Stridor

Laryngeotracheobronchitis (Croup)

ƒ Affects children 6 months - 6 years in the fall and early winter

ƒ Cause: Viral
 Para-influenza types 1, 3
 Others: RSV, influenza, adenovirus, corona virus
ƒ Presentation
 Upper respiratory catarrh (Rhinitis, low grade fever)
 Croupy ,barking, cough
 Hoarseness of voice
 Absence of drooling and toxic appearance
ƒ Croup severity:
Can be severe with inspiratory and expiratory stridor and respiratory
distress (substernal & suprasternal retractions)

ƒ Neck X ray
Steeple sign: Sub glottic narrowing in antero posterior view
ƒ Complication : Rarely; secondary bacterLDOLQIHFWLRQĺ%DFWHULDOWUDFKHLWLV
Differential diagnosis
ƒ Acute laryngitis
 Less severe croup (inspiratory stridor)
 No respiratory distress
ƒ Spasmodic laryngitis
 Viral but may be allergy or psychogenic (afebrile illness)
 Occurs at midnight
 Less severe
 Recurrence is common
ƒ Acute epiglottitis and acute tracheitis : see later

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Management
ƒ Most cases respond to home treatment
ƒ Indication for hospitalization
 Progressive stridor
 Severe stridor at rest
 Respiratory distress; hypoxia, cyanosis, depressed mental status
 Poor oral intake
ƒ Mild croup (barking cough and no stridor at rest)
 Oral hydration
 Minimal handling
 Mist therapy (no evidence to support its use)
ƒ Moderate to severe stridor at rest
1. Oxygen for patients with oxygen desaturation
2. Nebulized epinephrine
 Racemic adrenaline nebulizer (0.25-0.5 ml in 3ml saline),
 L- adernaline 5 ml 1:1000 solution is equally effective
Value
Reduce need for intubation for moderate to severe stridor at rest
3. Oral corticosteroids
 Dexamethasone: 0.6 mg/kg Oral or intramuscular as one dose.
Lower dexamethasone dose (0.15 mg/kg) is equally effective
 Inhaled budesonide (2–4 mg)
Value
Improves symptoms even in mild stridor
Reduce need for intubation for moderate to severe stridor at rest

Outcome

Symptoms resolve within 3 ƒ Repeat nebulized

hours of glucocorticoids and epinephrine is required
nebulized epinephrine ƒ Respiratory distress persists

 Hospitalization
Discharge  Close observation
 Supportive care: secure airway,
± intubation for 2-3 days

(Nelson textbook of pediatrics)

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Acute Epiglottitis (Supraglottitis)

 Infection of the epiglottis by Hemophilus influenza type B(in pre vaccine era)
 Strept pyogenes, Strept pneumoniae, nontypeable H. influenzae, & Staph
aureus, represent a larger portion of pediatric cases of epiglottitis in vaccinated
children
Clinical picture
ƒ Peak age = 2-7 years (now commoner in adults with sore throat)
ƒ Toxic child with high fever
ƒ Drooling of saliva (severe dysphagia)
ƒ The child is severely exhausted :
 Voice is muffled.
 Stridor is mild.
 Little or no cough
 The child prefer upright posture and
neck is hyperextended in an attempt
to maintain the airway
ƒ Laryngeoscopic examination shows large
“cherry red” swollen epiglottis but this
procedure and any minor procedure may
precipitate complete airway obstruction.
Management
Medical emergency, once suspected, the patient must be admitted to the PICU
ƒ Secure the Airway before any maneuver:
 Endotracheal tube (or less often tracheostomy) is
indicated ,regardless degree of respiratory distress ,
placed either in an operating room or ICU
 The artificial airway is kept in place for 2-3 days
 O2 inhalation as needed
ƒ Blood culture and, if possible, epiglottic surface culture should be done.
ƒ Antibiotics:
 Start parenteral Ceftriaxone or Cefotaxime or
Meropenem pending result of culture & sensitivity
 Continue antibiotics for at least 10 days.
ƒ Lateral X-ray of the neck if done (after securing airway)
may show swollen epiglottis (Thumb sign)
N.B: Household contacts < 4 years with incomplete HiB immunization or
immunocompromised require Rifampin prophylaxis (20 mg/kg orally once a day maximum
dose 600 mg for 4 days) (Nelson textbook of pediatrics)

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Bacterial Tracheitis
ƒ Acute bacterial infection of the upper airway that is potentially life
threatening.
ƒ Staphylococcus aureus is the commonest cause
ƒ Often follows viral laryngotracheobronchitis
ƒ Commoner than acute epiglottitis basically because of introduction of Hib
vaccine in most vaccinations protocols ¥¥
Clinical picture
ƒ The early clinical picture is similar to that of viral croup
ƒ Instead of gradual improvement, patients develop higher fever, toxicity,
and progressive or intermittent severe upper airway obstruction that is
unresponsive to standard croup therapy
ƒ Differentiated from epiglottitis by:
1. Preceded by viral prodrome
2. No posture preference; the patient can lie flat
3. No dysphagia or drooling!!
4. Lateral neck radiographs show a normal epiglottis but severe
subglottic narrowing; irregular tracheal border (absent thumb sign)
5. During endotracheal intubation/ Bronchoscopy: Normal epiglottis and
the presence of deep red mucosa and copious purulent tracheal
secretions below the cords confirm the diagnosis
6. Although cultures of the tracheal secretions are frequently positive,
blood cultures are almost always negative
7. Despite the severity of this illness, the reported mortality rate is very
low if it is recognized and treated promptly
Treatment
ƒ Patients with suspected bacterial tracheitis will require
 Direct visualization of the airway in a controlled environment
 Debridement of the airway
 Most patients will be intubated because the incidence of respiratory
arrest or progressive respiratory failure and respiratory arrest is high
 Thick secretions persist for several days, usually resulting in longer
periods of intubation for bacterial tracheitis than for epiglottitis or
croup
ƒ Antistaphylococcal agents: vancomycin or naficillin or oxacillin
ƒ Supportive care in ICU including supplemental oxygen ,suctioning

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Lower Respiratory Diseases
Chest Examination

Pneumonia Bronchopneumonia Pleural effusion Pneumothorax Hydropneumothorax Collapse

Inspection
- Movement Decreased Decreased bilateral Decreased Decreased
- Shape Normal Normal Bulge Retraction
Palpation
- Tracheal shift Central Central Shifted to opposite side To same
side
- Tactile vocal fremitus Increased ? Normal Decreased Decreased
Percussion
- Note Impaired note ? Impaired note Stonydull Hyperresonance Shifting dullness Dull
- Topography Lobar Bilateral Rising to axilla Allover the side Transverse upper border Lobar

Auscultation
- Breath sounds Diminished ? Normal vesicular Markedly diminished vesicular
bronchial
- Adventitious sounds Crepitations Bilateral wheezes ,
Crepitations
- Vocal resonance Increased May be normal Decreased
Bronchophony
Special signs -- -- Aegophony Coin test Succussion splash --

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Pneumonia
x Pneumonia is an infection of the lower respiratory tract that involves the
airways and parenchyma with consolidation of the alveolar spaces
x Pneumonitis is a general term for lung inflammation that may or may not be
associated with consolidation
Anatomic classification
ƒ Lobar pneumonia: pneumonia of one or more lobes
ƒ Bronchopneumonia: scattered bilateral inflammation both lungs
ƒ Interstitial pneumonia: bilateral perihilar pulmonary inflammation
Etiologic classification
Category Etiologic agents
Bacterial  Gram-positive: e.g. Strept Pneumonae, group B and A
streptococci ,Staphylococcus aureus
 Gram-negative: e.g. H.influenzae , Legionella, Klebseilla
Viral  Respiratory syncytial virus (RSV) parainflenza , influenza ,
adenovirus, Human metapneumovirus, Corona virus
Atypical  Mycoplasma pneumoniae , Chlamydophila pneumoniae
 Chlamydia trachomatis (in infants)
Mycobacterial  Tuberculosis and atypical mycobacteria
Aspiration  Oral anaerobic flora, with or without aerobes
Allergic  Esinophilic pneumonia (Loffler’s syndrome)
Rickettsial  Coxiella Burnetii
Opportunistics in  Fungal e.g. Aspergillus , histoplasma , cryptococcus, candida
immunocompromised  Protozoal ; Pneumocystis jiroveci (carinii)
 Bacterila; Klebsiella, and proteus
Symptoms
Onset is variable from acute, sub-acute or gradual
ƒ General  Fever, malaise , toxemia (worst in bronchopneumonia)
 May be abdominal pain: Referred from lower lobe
pneumonia
ƒ Chest  Cough (dry then productive)
 Dyspnea and grunting
Signs
Respiratory distress
ƒ Tachypnea is the most consistent clinical manifestation of pneumonia,
nasal flaring, retractions and grunting
ƒ Cyanosis and lethargy in severe infection specially in infants

To My mother and father

To My wife and kids
uploaded by: Dr.Maged Almansour

Class 14
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Chest examination
ƒ Pneumonia ( See table previous page for pneumonia ± effusion)
ƒ Bronchopneumonia ( See table previous page)
ƒ Interstitial pneumonia:o Minimal chest findings.
o Prolonged expiration & wheezes are common
Viral or bacterial pneumonia?
1. Clinical
Large pleural effusion, lobar consolidation, and a high fever at the onset of
the illness are suggestive of a bacterial etiology
2. Investigations : See later

Investigations
A. Radiological
1. Chest X-ray findings:
A. Lobar pneumonia
 Homogenous opacity in one or more lobes
 With clear costopherinic angle (differentiate it from effusion)
 Usually bacterial

Right sided middle lobe Left sided lower lobe Right sided upper lobe
pneumonia pneumonia pneumonia

B. Bronchopneumonia
 Scattered opacities in both lungs
 Viral or bacterial

C. Interstitial pneumonia
 Scattered bilateral interstitial infiltrates and peribronchial cuffing
 Hyperinflation, and atelectasis
 Seen in viral bronchopneumonia and atypical pneumonia

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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D. Complications
Effusion, abscess, or pneumatoceles (single or multiple, thin-walled,
air-filled, cystlike cavities) may indicate S. aureus, gram-negative, or
complicated pneumococcal pneumonia.

Effusion (Left) Lung abscess (Right) Pneumatoceles (Right)

Meningitis, suppurative arthritis, and osteomyelitis are rare complications

of hematologic spread of pneumococcal or H. influenzae type b infection
2. Ultrasonography:
 Highly sensitive and specific in diagnosing
pneumonia by determining lung
consolidations and air bronchograms or
effusions
 Differentiate simple effusion and empyema
 Guide thoracentesis of a loculated effusion
3. Contrast CT scan, CT or ultrasonography guided lung biopsy:
Reserved for complicated cases/ rare pneumonias
B. Laboratory
1- WBC count
 In viral pneumonia usually not higher than 20,000/mm3, with a
lymphocyte predominance
 In bacterial pneumonia, in the range of 15,000-40,000/mm3, and a
predominance of granulocytes
 Mild eosinophilia is characteristic of infant C. trachomatis pneumonia
2- Acute phase reactants: High ESR, positive C-reactive protein and
Procalcitonin usually suggest bacterial rather than viral pneumonia
3- Isolation of an organism
Indicated for
 Ill cases that require hospitalization
 Immunocompromised patients
 Patients with recurrent pneumonia
 Pneumonia unresponsive to empirical therapy

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
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Workup
ƒ Blood cultures are positive in 10% to 20% of bacterial pneumonia
ƒ Pleural fluid culture
ƒ Lung tracheobronchial secretions culture
ƒ Invasive: Bronchoscopy with bronchoalveolar lavage ,brush
mucosal biopsy, needle aspiration of the lung, and open lung biopsy
ƒ Specific testing e.g.
 M. tuberculosis : tuberculin skin test, serum interferon-gamma
release assay, or analysis of sputum or gastric aspirates by
culture, antigen detection, or PCR
 Detect the virus or viral antigens by DNA or RNA tests
4- Serology: for rising antibody titers:
- Cold agglutinins in 50% of mycoplasma pneumonia (non specific test).
- ASO titer in streptococcal pneumonia
Complications
Respiratory Systemic
 Pleural effusion  Meningismus especially with right
 Empyema with or without upper lobe pneumococcal pneumonia
bronchopleural fistula and  Heart failure
pyopneumothorax  Distant infections e.g. Septicemia,
 Lung abscess meningitis, pericarditis
 Pneumatoceles  Paralytic ileus
 Unresolved pneumonia
These complications are more common
with Staph and Klebseilla pneumonia

Differential Diagnosis of pneumonia

1. Viral pneumonia
The commonest cause in pre-school children with peak at 2- 3 years
Causes: RSV, parainfluenza (1, 2, and 3) viruses, influenza (A and B)
viruses, human metapneumovirus, and adenovirus
Clinically: - Preceding upper respiratory tract infection for several days.
- Fever & respiratory distress Ÿ milder than bacterial pneumonia.
- May be widespread wheezes and crepitations.
Diagnosis
ƒ CXR: Bilateral peri hilar infiltrates (bronchopneumonia or interstitial
pneumonia) ± Hyperinflation.
Pleural effusions, pneumatoceles, abscesses, lobar consolidation, and
“round” pneumonias are generally inconsistent with viral disease
ƒ CBC : normal or mildly elevated WBCs with predominant lymphocytes
ƒ Detect the virus or viral antigens by DNA or RNA tests

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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2. Bacterial pneumonia
Pneumococcal* Streptococcal Staphylococcal H. Influenzae* Klebsiella
Age Commonest bacterial. Peak age 3-5 yr. Peak age below 1 year Peak age below 3 more in immune
pneumonia in History : staph skin yr deficient
children infection - Has high mortality
C/P - Moderate - Severe with extreme - Severe - Insidious onset - Severe , fulminant
- Moderate fever prostration - High fever - Prolonged - High fever with
- Usually lobar - High fever - May be course over copious purulent
- Bronchopneumia is - Bronchopneumonia bronchopneumonia weeks secretions
commoner in young with large pleural or lobar or hemithorax - Usually lobar; - Usually lobar
infants effusion - Complications involving two - Complications as
(abscess, empyema , or more lobes Staph.
pneumatoceles, and
pneumothorax)
* High incidence of penicillin resistance so treat with high doses of amoxicillin (80-90 mg/kg/24 hr) or cefuroxime or 3rd generation cephalosporin
3. Mycoplasma pneumonia (Primary Atypical Pneumonia): Common in school age (5-15 yr)
Clinically
 Severe nonproductive cough without significant respiratory distress
 Pharyngitis is common
 Minimal physical signs (walking pneumonia)
 May be chest wheezes and inspiratory crepitations
Diagnosis is mainly clinical.
ƒ Blood: CBC is usually normal, Cold agglutinins may be detected
ƒ Chest X-ray show:
 Scattered bilarteral perihilar pulmonary infiltrates
 Rarely: Lobar pneumonia ± effusion.
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Treatment of pneumonia
i. Supportive
 Bed rest, humidified O2 inhalation ± restricted I.V. fluids
 Symptomatic treatment e.g. antipyretics for fever
 Treatment of complications e.g. Heart failure.
 Aspiration /drainage for effusion or empyema
 Oral zinc (10- 20 mg/day) is recommended add-on in developing countries
ii. Specific treatment
1. Suspected bacterial pneumonia: Antibiotics
 As suggested by clinical picture & chest X-ray
 Based on the presumptive cause and the age
 Antibiotic combination if the cause cannot be detected
Duration: For 10-14 days, 5 days if azithromycin is used
Empirical therapy
Milder cases  Amoxicillin (50–90 mg/kg/dose) or Cefuroxime
or Amoxicillin clavulanate
Hospitalized cases
ƒ Children less than 4 weeks  IV Ampicillin and an Aminoglycoside
ƒ Infants 4–12 weeks of age  IV Ampicillin for 7–10 days
ƒ Older child fully immunized Yes ĺAmpicillin or penicillin G.
against H. influenzae type B No ĺParenteral cefotaxime or ceftriaxone
and S. pneumoniae
ƒ Suspected Staph  Add vancomycin or clindamycin
ƒ Suspected Klebsiella  Add aminoglycoside
ƒ Mycoplasma pneumonia  Erythromycin or azithromycin or clarithromycin
ƒ In adolescents  Fluoroquinolones may be considered
(Nelson textbook of Pediatrics, 2016)
2. Viral pneumonia
 Antibiotics may be considered as a coexisting bacterial infection exists
in 30% of cases
 An appropriate antiviral (e.g. Amantadine, Rimantidine, Osetamivir,
Zanamivir) should be considered for the child with pneumonia due to
Influenza
Prognosis
ƒ Uncomplicated community-acquired bacterial pneumonia show
improvement in clinical symptoms within 48-96 hr of initiation of
antibiotics.
ƒ Radiographic evidence of improvement lags behind clinical improvement.
ƒ Causes of none improvement with appropriate antibiotic therapy:

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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 Complications, such as empyema

 Obstruction from endobronchial lesions or foreign body
 Bacterial resistance
 Pre-existing Diseases: as causes of recurrent pneumonia***
 Nonbacterial Etiologies such as viruses and aspiration

Recurrent pneumonia
ƒ Defined as 2 or more episodes in a single year or 3 or more episodes
ever, with radiographic clearing between occurrences
ƒ Underlying disorder
1. Hereditary disorders
 Cystic fibrosis
 Sickle cell disease
2. Immunodeficiency: Primary or secondary
3. Disorders of Cilia
 Immotile cilia syndrome
 Kartagener syndrome
4. Anatomic disorders
 Aspiration (oropharyngeal incoordination)
 Gastroesophageal reflux
 Tracheoesophageal fistula (H type)
 Foreign body
 Bronchiectasis
 Pulmonary sequestration
 Lobar emphysema
(Nelson textbook of pediatrics)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
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Acute Bronchiolitis
ƒ Acute inflammation of the bronchioles
ƒ Usually viral infection
 Respiratory syncytial virus (RSV) in 50% of cases
 Others: human metapneumovirus, Adenovirus, Para influenza and
Mycoplasma
ƒ Incidence
 Age: The 1st 2 years of life (peak age ~ 6 months)
 Season: more in winter and spring
 More in boys who are not breast fed
Pathogenesis
ƒ Viral invasion of small bronchioles mucosa & submucosa invaded
o acute inflammation o bronchiolar obstruction by edema, mucus
and cellular debris
ƒ Impaired pulmonary gas exchange ( hypoxemia , hypercapnia) may
occur with severe disease
Clinical picture
Symptoms
 Mild upper respiratory catarrh (rhinitis , mild fever) for few days then
 Gradually occurring dyspnea, cough and wheezy chest
 Along with irritability, difficult feeding, air hunger
 Apnea may be more prominent in very young infants (<2 mo old) or
former premature infants
Signs
1. Respiratory distress
 Tachypnea, retractions, grunting ± cyanosis
 Degree of tachypnea does not always correlate with the degree of
hypoxemia or hypercarbia, so pulse oximetry and noninvasive
determination of carbon dioxide are essential
2. Hyperinflation o Ptosed liver and spleen
3. Chest examination:
Inspection o Hyperinflated chest , prolonged expiration
Palpation o May be palpable wheezes and decreased TVF
Percussion o Bilateral hyper resonance
Auscultation o Diminished vesicular breath sounds.
o Prolonged expiration.
o Bilateral expiratory wheezes
o Bilateral fine crackles

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
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Complications
ƒ Dehydration o due to tachypnea & anorexia
ƒ Lung collapse or pneumothorax o sudden deterioration
ƒ Respiratory failure
ƒ Heart failure
Investigations: Diagnosis of acute bronchiolitis is mainly clinical
ƒ Chest X-ray
R Indicated only for severe illness or bacterial superinfection suspected
R Shows:
 Hyperinflation (horizontal ribs , flat diaphragm)
 Bilateral perihilar infiltrates ± areas of atelectasis

ƒ Blood tests:
R ESR, CRP and white blood cell count o are usually normal
R Arterial blood gases for severe disease
ƒ Detect the virus by cell culture or viral antigen /RNA by PCR using
nasopharyngeal aspirate
Differential diagnosis: From other causes of wheezy infants e.g.:
x Bronchial asthma: suggested by
 Recurrent attacks of wheezy chest ± viral prodrome
 Related to certain allergens or exercise
 Respond to anti-asthma therapy(bronchodilator trial)
 Relatives with atopy or asthma/presence of atopy or dermatitis
x Congestive heart failure
x Aspiration syndromes /Foreign body inhalation.
x Cystic fibrosis
x Infections e.g. Pulmonary TB, Pertussis
Treatment
Treat at home or hospital?
Hospitalize if risk factors for severe disease exist e.g.
 Infants younger than 3 months
 Severe respiratory distress or apnea, oral feedings intolerance
 Preterm birth
 Underlying comorbidity

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
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The mainstay of treatment is:

“Supportive care”
 Nurse sitting with head and chest elevated at a 30-degree angle with
neck extended
 Humidified cool oxygen inhalation with high-flow nasal cannula
 Frequent suctioning of nasal and oral secretions often provides relief
of distress
 Care of feeding ( more calories are required)
 Parenteral fluids if risk of aspiration exists with respiratory distress
 Treat complications e.g.
R Antibiotic therapy if secondary bacterial pneumonia suspected
R CPAP or intubation and mechanical ventilation if deterioration
with exhaustion or persistent apnea
Non evidence based and controversial strategies
1. Inhaled bronchodilator*  Don’t modify disease course
2. Steroids*  Don’t modify disease course
 Prolong virus shedding
3. Combined nebulized epinephrine* &  Under ongoing studies
oral dexamethasone  Short term relief in severe cases
4. Nebulized hypertonic saline
5. Heliox
6. Chest physiotherapy
 Should be avoided
7. Cough sedatives
* Frequently used
Home oxygen therapy
ƒ Low risk cases that require oxygen can be discharged ER on home oxygen
ƒ Criteria for home oxygen therapy includes
1. Mild illness as evident by feeding well ,alert and active; minimal
retractions; respiratory rate <50 breaths/min, no apnea
2. Age: 2 mo-2 yr of age with first episode of wheezing during RSV
season
3. Reliable family: good access to healthcare, can manage
secretions by bulb suctioning
4. Absent:
 Toxic appearance or proven bacterial disease
 Comorbidities: Cardiac, pulmonary, immunodeficiency, or
neuromuscular
(Nelson textbook of Pediatrics )

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
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Antiviral
Ribavirin aerosol
Indications: risky infants (see later)
Side effect: controversial benefits and very costly

Prevention
ƒ Meticulous hand hygiene is the best measure to prevent nosocomial
transmission.
ƒ Monoclonal antibody to RSV F protein (Palivizumab) I.M is given before
and during RSV season for risky infants < 2 yr of age with:
 Chronic lung disease
 Gestational age is less than 35 weeks
 Comorbidities e.g. congenital heart disease, immunodeficiency,
neuromuscular disorders

Prognosis
ƒ The median duration of symptoms is approximately 14 days; the first 2-3
days are the most critical
ƒ Mortality rate | 1% due to: apnea , respiratory failure, dehydration
ƒ There is higher incidence of wheezing and asthma in children with a
history of bronchiolitis

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
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ƒ Bronchial Asthma
Definition
Asthma is a chronic inflammatory condition of the lung airways resulting in
airways hyper responsive to various stimuli and episodic airflow obstruction
with high degree of reversibility
Incidence
 Boys/ girls: 2:1 before puberty and 1:1 after puberty.
 Most asthmatic children become symptomatic before 5th year
Risk factors/associations
 Parental asthma
 Other allergies e.g. eczema, allergic rhinitis, food allergies
 Rhinitis, sinusitis & gastro esophageal reflux disease (GERD).
 Early weaning from breast milk before 4 months.
Pathogenesis
ƒ Genetic predisposition
ƒ Imbalance between T Helper 1 lymphocytes (Th1) & and T Helper 2 (Th2) with
raised Th2 o excessive release of proinflamatory cytokines (IL4, IL5, IL13)
ƒ Exposure to asthma triggers

- Accumulation of IgE in airways and blood (Type 1 hypersensitivity; atopy)

- Increased activated mast cells, eosinophils and chronic inflammatory cells in
airways

Bronchoconstriction and airways inflammation with edema, nmucus, nchronic

inflammatory cells

Airways narrowing especially in expiration

ƒ Persistent airway inflammation leads to

- Collagen deposition beneath basement membrane.

- Hypertrophy of muscles & glands.

Airway remodeling and persistent narrowing (Chronic obstructive airway

disease (Cor Pulmonale)
ƒ Asthma triggers includes
 Respiratory viral infections
 Animals with fur, dust mites, cockroaches
 Aerosol chemicals
 Changes in temperature e.g. early morning
 Drugs (aspirin, beta blockers)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
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2 Illustrated Baby Nelson

 Exercise (? Air drafts moving in and out)

 Pollens
 Smoke, tobacco smoke
 Strong emotional expression
Clinical picture
Asthma is strongly suggested with
1. History of any of the following:
 Cough, worse particularly at night
 Recurrent wheeze, difficult breathing or chest tightness
2. Symptoms occur or worsen
 At night, awakening the patient
 In a seasonal pattern
 In the presence of a trigger
3. Symptoms respond to short-DFWLQJLQKDOHGȕ-agonist
4. History of other allergies eczema, hay fever,…
5. History of asthma or atopy in other family member
6. History of Patient’s colds often “go to the chest” or take longer to clear up
During an attack (Exacerbation)
ƒ Irritability, restlessness.
ƒ Respiratory distress (tachypnea, retractions…)
ƒ Chest signs
Chest wheezing (a normal chest examination does not exclude asthma)
Inspection o +\SHULQIODWHGFKHVWSURORQJHGH[SLUDWLRQDQGĻPRYHPHQW
Intercostals and subcostal retractions
Palpation o Decreased TVF and may be palpable wheezes
Percussion o %LODWHUDOK\SHUUHVRQDQFHZLWKĻKHSDWLF FDUGLDFGXOOQHVV
Auscultation o Diminished vesicular breath sounds with prolonged
expiration
o Bilateral expiratory wheezes

Types of asthma
1. Transient non atopic wheezing
 Triggered by common respiratory viral infections
 Usually resolves during childhood
2. Persistent atopy-associated asthma
ƒ Associated with atopy
 Clinical e.g., atopic dermatitis in infancy, allergic rhinitis, food allergy
 Allergen sensitization, Ĺ,J(DQGEORRGHRVLQRSKLOV
ƒ Tend to persist into later childhood with lung function abnormalities

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
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Workups in asthma
“Diagnosis of bronchial asthma is mainly clinical”
1. Lung function tests
Usually feasible in children > 5 yr of age
A. Spirometry (in clinic)
 FEV1 Forced expiratory volume in the 1st second
 FEV1:FVC ratio Forced expiratory volume in the 1st second/ Forced
vital capacity
Findings in asthma
 Low (relative to percentage of predicted norms or previous best)
 Improve after inhaled bronchodilator
 Worsen after exercise challenge

Spirometry is recommended at
least annually and more often if
asthma is poorly controlled or
abnormal lung functions detected

B. Peak Expiratory Flow (PEF)

 Used for home monitoring
 Less sensitive than spirometry

2. Immunologic
 High IgE and eosinophils in the blood and sputum
 Allergen sensitization : Skin testing with suspected allergens
3. Chest X-ray (During exacerbation) may show
 Hyperinflation.
 May detect complications e.g. collapse, pneumothorax

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
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2 Illustrated Baby Nelson

Treatment
Medications used in bronchial asthma
Reliever medicines
1. 6KRUWDFWLQJȕ$JRQLVWV6$%$
ƒ Preparations  Salbutamol
 Albuterol
 Levalbuterol
ƒ Action  Selective E2 agonists; induce quick and short lived
bronchodilatation
ƒ Duration  Short acting ; 4- 6hrs
ƒ Indication  Drugs of choice for acute asthma symptoms (“rescue”
medication) and for preventing exercise-induced
bronchospasm
(2.5 – 5 mg by inhalation; dilute with saline to 3 mL)
ƒ Side effects  Tachycardia and tremors (less with Levalbuterol)
 Hypokalemia
 Overuse of SABAs as a “quick fix” for asthma, rather
than using controller medications is associated with an
increased risk of death from asthma
2. Ipratropium bromide
 Parasympatholytic
 Used primarily as add on to SABA in treatment of acute severe asthma
 125 – 250 microgram by inhalation; dilute with saline to 3 mL
 Useful in wheezing due to bronchmalacia
 Side effects : Mild atropine like / less potent than the ȕ-agonists

Controller medicines
1. Steroids
a. Inhaled corticosteroids (ICS)
ƒ Preparations  Beclomethasone (Qvar)
 Budesonide (Pulmicort)
 Fluticasone (Flixotide)
 Ciclesonide (Alvesco)
ƒ Action  Potent anti-inflammatoryĺ reduce airway chronic
inflammation and remodeling
 ĹĹ expression of E-receptors in bronchial muscles
ƒ Indication  First-line treatment for persistent asthma
 Available in metered-dose inhalers (MDIs), dry
powder inhalers (DPIs), or suspension for nebulization

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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ƒ Side effects a. Oral candidiasis (thrush)

b. Dysphonia (hoarse voice) due to vocal cord myopathy
Both are minimized by:
 Using a spacer with MDI( reduce oropharyngeal
deposition of the drug)
 Mouth rinsing after ICS use
c. ? Steroids systemic effects with high dose, long term ICS
b. Systemic corticosteriods
ƒ Preparations  Oral: Prednisolone
 Parenteral: Methyleprednisolone, Hydrocortisone
ƒ Indication  Short courses to treat asthma exacerbations
 Rarely, long courses in patients with severe disease
who remain symptomatic despite optimal treatment
ƒ Precaution  Children who require routine or frequent short courses
of oral corticosteroids, especially with concurrent high-
dose ICSs, should receive corticosteroid adverse
effects screening and osteoporosis preventive
measures
2. Long Acting E2 Agonists (LABA)
ƒ Preparations 
 ĺ ¥
ƒ Action  E

ƒ Indication 

ƒ Precaution 

ƒ Risks 


3. Leukotriene receptor antagonist (LTRAs)

ƒ Preparations  Montelukast (Singulaire); chewable tablets or sachets,
licensed above 6 months
 Zafirlukast, licensed above 5 years

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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ƒ Action  Leukotriene receptor antagonist with anti-

inflammatory and a bronchodilator effect
ƒ Indication  Alternative treatment for mild persistent asthma
 Add-on medication with ICS for moderate persistent
asthma
 Reduce exercise-, aspirin-, and allergen-induced
bronchoconstriction.
ƒ Precaution  Less effective than ICSs in patients with mild
persistent asthma
ƒ Risks  Montelukast has rarely been associated with mood
changes and suicidality
4. Theophylline
ƒ Action  3KRVSKRGLHVWHUDVH LQKLELWRU ĺ EURQFKRGLODWDWLRQ DQG
anti-inflammatory
ƒ Use  Alternative monotherapy controller agent for older
children and adults with mild persistent asthma
 It is no longer considered a first-line agent for young
children
ƒ Precaution  Narrow therapeutic window; therefore, when it is used,
serum theophylline levels need to be routinely
monitored
ƒ Overdose  Headaches, vomiting, cardiac arrhythmias, seizures,
and death
5. Sodium cromoglycate
ƒ Mast cell stabilizer
ƒ Inhibit exercise-induced bronchospasm, they can be used in place of
SABAs, especially in children who develop unwanted adverse effects
with ȕ-agonist therapy (tremor and elevated heart rate).
ƒ Not a preferred controller ; must be administered frequently (2-4
times/day) and are not nearly as effective daily controller medications
Asthma medicines delivery systems

Metered dose inhaler with Dry powder inhaler with Solution for nebulization
a spacer metered dose turbohaler

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
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Management of acute asthma exacerbation

A. At Home
 Inhaled SABA (Salbutamol): 2.5 - 5 mg with saline by nebulizer up to
3 treatments in 1 hr OR
 2-6 puffs SABA by MDI (puff=100 mcg) up to 3 treatments in 1 hr

 Resolution of symptoms  Incomplete response to initial treatment

 No symptoms over the next 4 hr  Persistent PEF < 80% of personal best
 ,PSURYHG3()•RISHUVRQDOEHVW  Deterioration

 Continue SABA at 3-4 hr intervals

for 1-2 days Seek urgent medical advice
 Contact your physician for advice

B. Emergency department treatment

Assessment of severity
Mild Moderate Severe
ƒ Altered consciousness Absent Agitated, confused
ƒ Cyanosis Absent Likely present
ƒ Dyspnea On walking On talking At rest
ƒ Speaks In sentences Phrases In words
ƒ Pulse Normal Mild tachycardia Marked tachycardia
(> 180bpm in young)
ƒ Pulsus paradoxus Normal Less than 20 mmHg 20-40 mmHg
ƒ Wheezes End expiratory Holo expiratory Exp and inspiratory
May be quiet
ƒ Retractions Absent Common Usual
ƒ Peak expiratory flow •70% 40-69%* <40%*
ƒ Oximetry in air > 95 % 90 –95 % < 90%
ƒ PaCO2 < 42 mmHg* > 42 mmHg
ƒ PaO2* Normal* < 60 mmHg
* Means test not usually necessary
Signs of acute severe asthma with imminent respiratory arrest
 Drowsy or confused
 Paradoxical thoracoabdominal movement
 Absence of wheeze
 Bradycardia, Absent pulsus paradoxus (due to respiratory muscle fatigue)
Status asthamticus : A severe asthma exacerbation that does not improve with
standard therapy

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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2 Illustrated Baby Nelson

Action plan

ƒ Pulse oximetry in air

ƒ High flow oxygen to keep O2 saturation > 92%
ƒ SABA (Salbutamol): 2.5 - 5 mg with saline by nebulizer or 2 to 6
puffs by MDI plus spacer
(Repeat every 20 minutes for the 1st hour)
ƒ Ipratropium bromide: 125 - 250 mcg by nebulizer; if no adequate
response to the first salbutamol nebulizer
(Repeat every 20 minutes for the first hour only)
ƒ Oral Corticosteroids (1-2mg/kg in divided doses) in moderate to
severe asthma exacerbations to hasten recovery and prevent
recurrence of symptoms
ƒ Epinephrine( 1:1000) :0.3-0.5 mg IM or SC may be given in
severe cases

Outcome at 1 hour

Good outcome:  Moderate to severe

 Normal physical findings exacerbations that do not
 PEF >70% of predicted or personal best adequately improve within
 Oxygen saturation >92% in room air for 1-2 hr of intensive treatment
4 hr  High risk patients*

1. :HDQJUDGXDOO\ĺ6$%$every 3-4 hr
2. ,IRQDFRQWUROOHUGUXJ,&6ĺFRQWLQXH
Admission
it during and after exacerbation
3. Continue oral steroids for 3-7 days

* High risk patients include:

 Previous severe asthma exacerbation (intensive care unit admission)
 Two or more hospitalizations for asthma in past year
 Three or more emergency department visits for asthma in past year
 Low birthweight
 Poverty
(Nelson Text Book of Pediatrics, 2016)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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3 Illustrated Baby Nelson

C. Admission to hospital /PICU

ƒ Admission to an PICU is indicated for patients with
 Severe respiratory distress
 Concern for potential respiratory failure and arrest
Action plan
ƒ Cardio-pulmonary monitoring
ƒ Oxygen
ƒ Salbutamol
 Nebulizer every 20 min as needed, then every 1-4 hr as needed
Or
 Continuous nebulization with oxygen: 5-15 mg/hr
ƒ Corticosteroids: Short course 3-7 days
 Oral: Prednisone 1-2 mg/kg
 Parenteral: Methyleprednisolone or Hydrocortisone
Ipratropium bromide nebulizer (poor evidence; no longer recommended)

Persistent severe dyspnea and high-flow oxygen requirements

R Obtain IV access, take electrolytes , glucose and ABG

R CXR in life threatening attack or suspected pneumothorax (deteriorate after
a period of improvement)
R Start IV maintenance fluids
 Dextrose 5% in 0.45% saline with 20-mmol/l kcl
 At 70-80% of maintenance
 Correct any dehydration
R Replace nebulizer by IV Salbutamol ; Watch for low potassium and ECG
monitoring for arrhythmias

Critically ill or at risk for respiratory failure

Available options
x Epinephrine IM or SC
x Magnesium sulphate (25-75 mg/kg, maximum dose 2.5 g, given
intravenously over 20 min)
x Aminophylline ; loading dose 5-10 mg/kg over 1 hour followed by
maintenance 1 mg /kg/hour (0.7 mg /kg/hour if >10 years)
x Inhaled heliox (helium and oxygen mixture)
x Assisted /mechanical ventilation

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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After exacerbation resolution:

1. Space SABA gradually
2. Continue steroids for full 3-7 days
3. Start controller therapy
4. Families of all children with asthma should have a written action plan to
guide their recognition and management of exacerbations
5. With history of life-threatening episodes, especially if abrupt-onset in
nature, providing an epinephrine autoinjector and, possibly, portable
oxygen at home should be considered
(Nelson Text Book of Pediatrics, 2016)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
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Long term asthma management

I. Assessing asthma severity and initiating treatment (For patients who are not currently taking long-term control medications)
Persistent
Intermittent Mild Moderate Severe
1. Daytime symptoms
” 2 days/wk > 2 days/wk but not daily Daily Throughout the day
(Wheezing, cough, breathless)
2. Nocturnal symptoms /awakening (Nocturnal cough, wheezing, breathless)
Age < 5 yr 0 1-2 /mo 3-4 /mo >1 /wk
$JH•\U ” 2 /mo 3-4 /mo >1 /wk Often 7 /wk
3. Need for reliever ” 2 days/wk > 2 days/wk Daily Several times per day
4. Limitation of activities
(Cough ,wheeze, or breathless None Minor limitation Some limitation Extreme limitation
on exercise, play or laugh)
5. Lung function (FEV1);
> 80% predicted • 80% predicted 60-80% predicted < 60% predicted
age •5 yr
Recommended step for
Step 1 Step 2 Step 3 Step 3 or Step 4
initiating therapy
 2
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II. Stepwise Approach for Managing Asthma in Children

Step 1 Step 2 Step 3 Step 4 Step 5 Step 6
Rescue treatment for all steps: As needed inhaled VKRUWDFWLQJȕDJRQLVW6$%$“6KRUWFRXUVHRIRUDOVWHURLGV if exacerbation is severe or
history of previous severe exacerbations
Move to step 2 if : Low dose ICS Medium dose ICS Medium dose ICS High dose ICS High dose ICS
Rescue treatment is
needed more than Or + Montelukast* + Montelukast* + Montelukast*
twice a week Montelukast OR OR OR
or
If night-time OR Medium dose ICS High dose ICS High dose ICS
symptoms at least Low dose ICS + + LABA + LABA + LABA
once a week *
or Montelukast +
If exacerbation OR Oral glucocorticoids
in the last 2 years Low dose ICS + LABA lowest dose
Modified-release oral theophylline may substitute Montelukast
Consider Anti IgE(Omalizumab) for patients
above 12 years with Allergies
Consider subcutaneous allergen immunotherapy for patients who have allergic asthma
Patient education, environmental control, and management of comorbidities
*
For those less than 4 years

Step Down or Step Up gradually

According to assessment of current clinical control (See next table)
 3
Page | 189 Illustrated Baby Nelson

III. Assessment of current clinical control (preferably over 4 weeks)

Characteristic Well controlled Not well controlled Very poorly controlled

(All of the following) (Any measure in any week)

Daytime symptoms None or < 2 /week; very short >2 days/wk Throughout the day
Nocturnal symptoms /awakening
Age < 5 yr ” 1 /mo > 1 /mo >1 /wk
$JH•\U ” 1 /mo • 2 /mo • 2 /wk
Limitation of activities None Some limitation Extreme limitation
Need for reliever ” 2 days/wk > 2 days/wk Several times per day
Lung function (FEV1 or PEF) > 80% predicted 60-80% predicted < 60% predicted
Exacerbations requiring systemic 0-1/yr • 2/yr > 3/yr
steroids courses

Step Down gradually to the least Step Up gradually after checking inhaler technique,
medication necessary to maintain adherence, environmental control, and comorbid
Action
control if asthma is well condition
controlled at least 3 months Improvement should be seen within 4-6 weeks
Page | 190
2 Illustrated Baby Nelson

IV. Avoid exposure to triggering agents

ƒ Eliminate or reduce problematic environmental exposures
 Avoid drugs, foods, and additives known to cause symptoms.
 Avoid allergens as suggested by skin testing
ƒ Treat co-morbid conditions: sinusitis, GERD and rhinitis.
ƒ Give annual influenza vaccine unless egg allergic
ƒ In exercise induced asthma give:
SABA inhalation o 10 minutes before exercise
or Montelukast oral o 1 hour before exercise

V. Patient education
x Explain basic facts about asthma
x Written asthma management plan
x Demonstrate optimal technique of use of asthma devices
x Insist on adherence to medications
x Ensure avoidance of risk factors
x Two to four asthma checkups per year for:
1. Frequency of asthma symptoms during the day, at night, and with
physical Exercise
2. Frequency of “rescue” SABA medication use and refills
3. Lung function measurements (spirometry) for older children at least
annually
4. Number and severity of asthma exacerbations
5. Presence of medication adverse effects since the last visit

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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3 Illustrated Baby Nelson

Differential diagnosis of asthma

(Wheezy Chest)

Definition of wheeze
- Expiratory musical continuous sound
- Due to partial obstruction of small bronchi & bronchioles
- Can be sibilant or sonorous
- May be also inspiratory in severe obstruction
Possible mechanisms
- Bronchoconstriction (spasm of airways smooth muscles)
- Bronchial mucosal edema.
- Excessive, viscid secretions inside airways lumens
Causes

Acute Chronic /recurrent

ƒ Acute bronchiolitis. ƒ Bronchial asthma
ƒ Bronchial asthma exacerbation ƒ Congestive heart failure
ƒ Foreign Body inhalation ƒ Cystic fibrosis
ƒ Congestive Heart failure(e.g. ƒ Dynamic airway collapse: e.g.
congenital heart diseases or bronchomalacia &tracheomalacia
cardiomyopathy) ƒ Recurrent aspiration e.g.
ƒ Aspiration e.g. GERD  GERD
 Tracheo esophageal fistula
 Neuromuscular disorders
 Foreign body
ƒ Pulmonary tuberculosis(LN+)
ƒ Airway compression by: lymph
nodes, vascular ring or tumor


.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
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2 Illustrated Baby Nelson

Foreign body aspiration

Clinical picture
Squeals
1. Immediate expelling by cough reflex
2. Retained foreign body: manifestations differs according to site
Type of obstruction Laryngeal Tracheal Bronchial
Partial - Respiratory distress - Metallic cough - Chest
- Stridor wheezes
- Hoarsness of voice
- Aphonia
Complete - Suffocation - Respiratory distress - Collapse
- Cyanosis - Abscess
- Pneumonia
History
ƒ Commonly reported in children 3months to 6 years
ƒ History of sudden chocking or frank history of foreign body aspiration
ƒ Triphasic history may be obtained:
- Initial phase: cough, chocking, stridor or gagging
- Silent phase: if foreign body pass and impact in smaller airways
- Phase of complications: recurrent pneumonia , abscess, bronchiactasis
Signs
R Fixed localized wheeze; unresponsive to treatment.
R Unexplained lung collapse
R Diminished breath sound over one lung, one lobe or one segment
R Mediastinal shift (unilateral collapse or emphysema).
R “Same site” recurrent pneumonia, abscess, bronchiectasis
Chest X-ray
- Positive only in about 50% of cases
- May show obstructive collapse or obstructive emphysema in expiratory film.
Treatment
A. Without respiratory distresso bronchoscopic extraction
B. With respiratory distress:
1. If the child is breathing well:
- Encourage cough to clear the foreign body
- Be vigilant for any deterioration
2. If cough becomes ineffective:
ƒ Try to assist expulsion of the foreign body
ƒ Provide rescue breathing in between trials.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 193
3 Illustrated Baby Nelson

ƒ Use the Alert, Verbal, Pain, Unresponsive pediatric scoring system(AVPU)

to determine both a child’s level of consciousness and cerebral cortex
function
ƒ If trials fail and infant becomes unconscious, attempt to visualize foreign
body and remove manually.

i. First aid for the choking infant < 1 year of age
 Hold infant prone with the head down.
 Give 5 interscapular back blows, using heel of hand.
 Turn the infant supine, with head dependent and perform
5 quick downward chest thrusts .

ii. First aid for the choking child older than 1 year of age
A) In conscious patient Ÿ abdominal thrust in sitting or
standing (Heimlich maneuver):
 Encircle the child chest with arms from behind.
 Place one fist against patient’s abdomen in midline
just below tip of xiphoid.
 Grasp fist with other hand and exert 5 quick, upward
thrusts.

B) In unconscious patient Ÿabdominal thrust in lying down:

 Place the patient supine.
 Open patient airway using chin lift or jaw
thrust.
 Place heel of one hand on child’s abdomen
just below costal margins.
 Place the other hand on top of the first hand.
 Press both hands into abdomen with quick,
upward thrusts in midline.

iii. Further interventions

- Laryngoscopic removal.
- If failed; push foreign body more distally.
- If failed, perform immediate cricothrotomy
Prevention
Avoid chocking materials in infants and young children e.g. small toys, nuts,
popcorn

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 194
2 Illustrated Baby Nelson

Dry Pleurisy
Definition: Fibrinous inflammation of the pleura.
Causes
ƒ Infections: Viral pneumonia, bacterial pneumonia, tuberculosis
ƒ Chest wall trauma
ƒ Collagen diseases e.g. Rheumatic fever, systemic lupus erythematosus
Clinical picture
R Manifestations of the cause
R Chest pain: Stitching, n with deep respiration, cough & sneezing
R Patients may prefer to lie on same side.
R Auscultation: Pleural rub: - Scratchy sound.
- Decrease by holding breathing.
Treatment: - Treat the cause.
- Analgesics.
Serofibrinous Pleurisy
(Pleural Effusion)
ƒ Normally, only 4-12 mL of fluid is present in the pleural space, but if
formation exceeds clearance, fluid accumulates.
ƒ Definition: Serofibrinous inflammation of the pleura.
Types of effusion
Transudate Exudate Bloody Cheylous
Characters
- Clear; straw colored - Turbid ; opaque Bloody with RBCs - Milky white
- Proteins < 3gm/dl - > 3 gm/dl. on mic. examination - Dissolved with
- p Cells (mesenchymal) - n Cells (PMNLs) ether
- p Specific gravity - n Specific gravity (>1015) - Spread on filter
- Sterile - May reveal organisms paper
- pLactate dehydrogenase - Lactate dehydrogenase >200 iu /l
Mechanisms
- Increased hydrostatic Increased capillary permeability Impaired lymphatic
capillary pressure due to inflammation , malignancy, drainage
- Decreased plasma mediastinal or chest wall diseases
osmotic pressure
Causes
Passive transudation in - Pneumonia. - Tumors Thoracic duct
renal, cardiac & hepatic - T.B. - Trauma obstruction or
causes of generalized - Ruptured Lung abscess - Hemorrhagic blood trauma
edema - Mediastinitis Diseases
- SLE, uremia, metastasis
- T cell lymphoma.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Clinical picture
Symptoms
 Manifestations of the underlying cause (e.g. fever, dyspnea,.….)
 Respiratory distress
 Chest pain: dull aching pain; patient prefers to lie on the affected side
Chest examination
Small effusion:
Clinical picture of an underlying cause e.g. pneumonia o
bronchophony, bronchial breathing and crepitation
Massive effusion
ƒ Inspection o Unilateral bulge, full intercostal spaces with
diminished movement
ƒ Palpation o Decreased TVF & trachea shifted to opposite side
ƒ Percussion o Stony dullness, rising to axilla
ƒ Auscultation o Marked diminished breath sounds (or absent).
o Aegophony (nasal tone of voice) may present at
the top of effusion due to kinked bronchi
Investigations
1. Chest X-ray in supine and upright positions:
ƒ In small effusion: homogenous opacity just obliterating costophernic angle
ƒ In moderate to large (Massive) effusion: homogenous opacity
- Filling the costophernic angle
- Rising to the axilla.
- With shift of the mediastinum to the opposite side

Mild left sided effusion Moderate right sided effusion Massive left sided effusion

2. Chest ultrasonography
 Diagnostic for pleural fluid
 Guide thoracentesis/ Chest tube insertion

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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3. Thoracentesis:
a. Inspect the fluid:
- Straw colored o Transudate
- Turbid o Exudates
- Milky white o Chylous
- Fetid odor o Anaerobic infection , empyema
b. Cytology:
- Polymorph o Infection e.g. Pneumonia , early TB
- Lymphocytes o TB, chylous , malignancy ; lymphoma
- Esinophils o Parasitism, emboli
- Red cells o Trauma, tumors,……
c. Order culture & sensitivity
d. Biochemical examination: Mention from previous table
4. Tests for TB: tuberculin test, sputum analysis and culture
5. Pleural biopsy, thoracoscopy and/ or broncoscopy: if TB or malignancy is
likely

Outcome of effusion
 Massive effusion may impair cardiac function
 Secondary pyogenic infectiono empyema
 Organization of unresolving exudates may lead to fibrothorax

Treatment
1. Treat the cause
2. Thoracocentesis is both diagnostic and therapeutic
3. Thoracostomy tube drainage
ƒ Closed drainage using intercostal tube with underwater seal
ƒ Indicated for:
a. Massive effusion
b. Marked respiratory distress
c. Effusion not resolved with medical treatment
d. Empyema
ƒ Site of aspiration o 5th space mid axillary line
ƒ Ӌ

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Purulent Pleurisy (Empyema)

Definition
ƒ Exudative pleural effusion with marked nn pus cells
ƒ “Effusion is empyema if bacteria are present on Gram staining, pH is < 7.20,
and there are >100,000 neutrophils/ȝL”
Causes
 Pneumonia (Pneumococci, Staph, H. influenza and klebseilla).
 Rupture lung abscess.
 Rupture abdominal abscess or subphernic abscess
 Rupture of chest wall abscess
 Secondary contaminated chest trauma or surgery
 Secondary infection of an effusion
 Secondary to infection from suppurated lower cervical lymph nodes
Clinical picture
1. Acute empyema: Same as pleural effusion with:
- High fever, toxic patient.
- Same side chest wall edema
- High incidence of complications.
2. Chronic empyema; empyema lasting for 3 months or more:
Clinical Laboratory
 Pale clubbing  Anemia of chronic illness ;
 Pallor normocytic normochromic
 Low grade fever (Pyrexia)  Elevated ESR
 Eventual fibrothorax ,collapse,  Poly morph nuclear
with same side mediastinal shift , leucocytosis
scoliosos and narrow ribs
 Risk of amyliodosis
Complications
1. Local spread to:
 Lung o Bronchopleural fistula.
 Abdomen o peritonitis.
 Chest wall o empyema necessitatis.
 Pericardium o purulent pericarditis.
2. Distant spread e.g. Meningitis, septicemia,…..
Investigations
1. Chest X-ray: as effusion but;
 Opacity is denser.
 Ribs crowding
 May be lung collapse in chronic cases

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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2. Thoracocentesis
 For character of the fluid (exudate with nn pus cells).
 For culture & sensitivity.
3. Ultrasonography or CT chest: Detect pleural fluid septa and loculated
empyema
4. Blood cultures: have a higher yield than cultures of the pleural fluid.
Treatment
1. Thoracostomy tube drainage
ƒ Closed drainage using intercostal tube with underwater seal(Open
drainage may be necessary in chronic cases)
ƒ For about 1 week
ƒ More than one tube may be needed to drain pockets of pus.
ƒ Use intra pleural fibrinolytic agents (Streptokinase or Urokinase):
 For 3-5 days
 Promote drainage, decrease fever, and shorten hospitalization
 Precaution: risk of anaphylaxis, and hemorrhage

2. Antibiotics: According to culture and sensitivity for 2- 4 weeks

3. Surgical decortications
 Via video-assisted thoracoscopic
surgery (VATS) or open thoracotomy
 Indicated for child who remains
febrile and dyspneic >72 hr after
initiation of therapy with intravenous
antibiotics and thoracostomy tube
drainage
N.B: 3VHXGRFK\ORXVHIIXVLRQ: Chronic serous effusion with cellular
degeneration:
Criteria: - High cholesterol /Low triglycerides level.
- Doesn’t clear with ether or alkali.
- Doesn’t spread on filter paper

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Hydropneumothorax

Definition: Presence of both fluid & air in the pleural cavity.

Causes
 Thoracocentesis for pleural effusion o hydropeumothorax.
 Thoracocentesis for hemothorax o hemopneumothorax.
 Empyema with bronchopleural fistula o pyopneumothorax
Clinical picture
Chest examination
- Inspection o Unilateral bulge.
- Palpation o Decreased TVF & trachea shifted to opposite side.
- Percussion o Shifting dullness.
- Auscultation o Marked diminished breath sounds.
o Succession splash
Investigations
- As pleural effusion;
- Chest X-ray o air- fluid level

Treatment
1- Antibiotics according to culture and sensitivity.
2- Closed drainage with underwater sealŸ If failed o surgical closure of the
fistula.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Pneumothorax
Definition: Presence of air in the pleural cavity
Causes
 Rupture preumatoceles
 Rupture tuberculous cavity
 Rupture lung abscess.
 Rupture surface alveoli in air trapping
 Vigorous resuscitation
 Chest wall trauma
Clinical picture
Symptoms
 Asymptomatic (in small pneumothorax) o discovered accidentally
 Symptomatic: o Respiratory distress (nn with tension pneumothorax).
o Symptoms of the cause
Chest examination
- Inspection o Unilateral decreased movement & unilateral bulge.
- Palpation o Decreased TVF & trachea shifted to opposite side.
- Percussion o Hyper resonance.
- Auscultation o Marked diminished breath sounds.
o Coin test
Evidence of tension
 Mediastinal shift
 Circulatory compromise
 Hearing a “hiss” of rapid exit of air under tension with the
insertion of the thoracostomy tube
Investigations
ƒ Chest X-ray/CT o jet black opacity
± mediastinal shift to the opposite
side
ƒ CT chest: may identify underlying
pathology such as blebs
ƒ For the cause

Treatment
1- Small pneumothorax: usually resolve within 1 week.
2- Symptomatic:
- Closed drainage with underwater seal.
- Tube is inserted in the 2nd space mid clavicular line.
3- Treat the underlying cause.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Tuberculosis
Definition
Chronic infectious disease caused by Mycobacterium TB bacilli (human and
bovine types) which is alcohol and acid fast aerobic intracellular bacilli.
Modes of transmission
 Inhalation o pulmonary tuberculosis
 Ingestion(with milk) o intestinal T.B(& tonsillar tuberculosis)
 Wound contamination o cutaneous tuberculosis
 Hematological spread form primary T.B. focus
Risk factors
 Children exposed to high-risk adults
 Low Socioeconomic standard (Homeless persons)
 Suppressed immunity e.g. HIV, malnutrition & immunosuppressive therapy
 Susceptible age: disease is more severe in infants and young child
 Susceptible Race: More in Negroes
Pathogenesis
Primary exposure to T.B bacilli result in formation of primary complex at the
site of entry of the bacilli (the commonest form in children).
1. Primary pulmonary complex:
Composed of  Primary focus (Ghon’s focus)
 Lymphangitis
 Hilar lymphadenitis
2. Primary cervical complex (tonsillar T.B)
Composed of  Primary focus in tonsils
 Lymphangitis
 Cervical lymphadenitis
3. Primary intestinal complex
Composed of  Primary focus in pyere’s patches
 Lymphangitis
 Mesenteric lymphadenitis

Each primary focus is formed of tubercles each tubercle is formed of :

- Central caseation
- Epitheloid cells
- Macrophages and lymphocytes
- Langerhans giant cells

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Fate of primary pulmonary complex

With good immunity With poor immunity

   
Regression (in 90%) Progression
x Small focus o complete fibrosis
x Large focus o capsulation & calcification o
In which T.B bacilli may remain viable
for years ;Latent TB Infection ( LTBI)
N.B: Risk for progression of latent TB: Infants and children ”4
yr of age, especially those <2 yr of age, Adolescents and young
adults, immunocompromised, and infection with measles
and pertussis.

Primary Direct spread Bronchial spread Hematologic spread

Cavitation (Endobronchial T.B)
     
 T.B pneumonia  Incomplete obstruction  One organ T.B
 Tuberculous effusion o emphysema  Miliary T.B
 Complete obstruction
o collapse

Ț








(Nelson textbook of pediatrics, 2016)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Clinical Picture
1.Pulmonary TB
Common
9 Asymptomatic in up to 50%; may be mild fatigue & poor appetite
9 Nonproductive cough and mild dyspnea are the most common symptoms
9 Some infants have difficulty gaining weight or frank failure-to-thrive
May be
ƒ Hilar lymphadenopathy may present with:
 Obstructive emphysema/wheezing: due to partial bronchial obstruction
 Lung collapse: due to complete bronchial obstruction
 Positive D’Espine sign (Bronchial breathing below level of tracheal
bifurcation)
ƒ Wheezy chest : due to endobronchial TB with partial bronchial obstruction
ƒ Allergic manifestations:

R Erythema nodosum R Phlyctenular keratoconjunctivitis

ƒ Toxic manifestations (uncommon) o night fever & sweating.
ƒ Manifestations of extension; usually with toxic manifestations and hectic
fever e.g. Bronchopneumonia, tuberculous effusion, miliary tuberculosis
N.B. Cough with sputum is rare, seen literally in progressive primary
pulmonary TB with formation of T.B cavity.
2. Extra pulmonary tuberculosis
A. Tuberculous lymphadenopathy
Common sites: Cervical, Mediastinal, Mesenteric
Criteria:
 Firm
 Non-tender
 Early discrete then matted after caseation
Complications:
 Cold abscess
 Draining sinus
Diagnosis: Biopsy and histologic examination

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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B. Miliary tuberculosis
ƒ Hemtogenous spread of tubercle bacilli from any focus (usually
pulmonary) o causing disease in 2 or more organs; lung, kidneys, liver,
spleen, bone marrow meninges.
ƒ Usually complicates the primary infection, occurring within 2-6 mo of the
initial infection
Common in
Infants, malnourished, immunosuppressed, with measles or pertussis
Clinical picture
ƒ Often, the onset is insidious, with anorexia, weight loss, and low-grade
fever
ƒ Weeks later:
 Generalized lymphadenopathy and hepatosplenomegaly
 Fever higher and more sustained
ƒ Weeks later:
 The lungs become filled with tuberclesĺ dyspnea, cough, rales, or
wheezing. May be respiratory distress, hypoxia, and pneumothorax
 Meningitis (recurrent headache) or peritonitis (abdominal pain) are
found in 20-40%
 Cutaneous lesions include papulonecrotic
tuberculids, nodules, or purpura
Diagnosis
1. History of recent exposure to an adult with
infectious TBĺ The most important clue
2. Biopsy of the liver or bone marrow with appropriate bacteriologic and
histologic examinations more often yields an early diagnosis
3. Chest x ray/CT:
 Small miliary shadows;
< 2-3 mm
(Snow storm opacities)

4. Fundus examination:
 Show choriod tubercles in 13-87 %
 Highly specific

5. TST is non-reactive in 40 %

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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C. Tuberculous meningitis
ƒ Complicates about 0.3% of untreated tuberculosis infections in children
ƒ Due to hematogenous spread either isolated or as a part of miliary TB
ƒ Tubercle bacilli spreading into the subarachnoid space form a gelatinous
exudate that infiltrates the corticomeningeal blood vessels, producing
inflammation, obstruction, and subsequent infarction of cerebral cortex
Clinical picture
- In infancy and early childhood
- Insidious onset
- Pass in 3 stages (each lasts 1-2 weeks)

1st stage 2nd stage 3rd stage

(Nonspecific) (Meningitis) (Terminal stage)
 Fever  Meningeal irritation  Hemiplegia or paraplegia
 Headache, irritability  Ĺ Intra cranial tension  Coma
 Drowsiness, and  Cranial nerve palsies  Eventually death
malaise

D. Intestinal tuberculosis
Occur secondary to
 Ingested tubercle bacilli in milk
 Swallowed sputum from tuberculous lesions in the lungs
Clinical picture
ƒ Tabes mesentrica; enlarged mesenteric lymph nodes.
ƒ Tuberculous enteritis:
 Chronic diarrhea o failure to thrive
 Chronic abdominal pain
E. Tuberculous peritonitis
Occur 2ry to: Spread from intestinal or genitourinary T.B lesions
Clinical picture
 Ascites
 May be adhesions.
F. Pott’s disease
Common sites: mainly affect lower dorsal spine.
Clinically
 Back pain and stiffness
 Cold abscess formation with persistent angular kyphosis
X ray spine: Diagnostic

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Diagnosis of tuberculosis
1. History of recent exposure to an adult with infectious TBĺ The most
important clue
2. Tuberculin Skin Test (TST):
ƒ Detects delayed hypersensitivity reaction to tuberculoprotein
ƒ Mantoux test: intradermal injection of 0.1 ml containing 5 tuberculin units
of purified protein derivative (PPD).
ƒ Interpretation: measure the induration after 48 -72 hours
ƒ Indications : see later
A. Positive test (= TB infection or disease)
1. Induration t 5 mm2 in high risk patients;
 Close contact with active tuberculosis patient
 Immunodeficiency
 Child having clinical or chest x ray compatible
with tuberculosis
2. Induration t 10 mm2 in moderate risk patients;
 Child < 4 years
 Child from endemic area or exposed to people from endemic area
 Chronic diseases with increased risk e.g. diabetes , renal diseases
3. Induration t 15 mm2 in any child above 4 years without risk factors
B. False positive test; usually less than 10 mm induration, consider:
 Recent BCG vaccination; reactivity is lost by 5-10 years after vaccine
 Non tuberculous mycobacteria
C. Negative test: induration less than 5 mm2
ƒ True negative test o no T.B infection
ƒ False negative test o in
 Technical error
 Transient suppression of tuberculin reactivity with viral infections
e.g. measles, mumps or live virus immunization
 Early in the disease
 Miliary TB.
 Immunodeficiency
3. Interferon-ȖRelease Assays (IGRA)
ƒ
ƒ Ț

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Indications of TST or IGRA

1. Contacts of people with confirmed or suspected contagious TB
2. Children with radiographic or clinical findings suggesting
tuberculosis
3. Children immigrating from countries with endemic infection (e.g.
Asia, Middle East)
4. Children with travel histories to countries with endemic infection
5. Children infected with HIV should have annual TST or IGRA
6. Before initiation of immunosuppressive therapy e.g. Prolonged
steroid

ƒ
 Ӌ

 Ӌ

(Nelson textbook of pediatrics, 2016)
4. Specific:
A. Pulmonary tuberculosis
1. Isolate M. tuberculosis:
Sampling
 Expectorated sputum in older children
 Induced sputum with a jet nebulizer and chest percussion followed by
nasopharyngeal suctioning is effective in children as young as 1 year
 3 consecutive early morning gastric aspirate before the infant has arisen
Workup
 Acid-fast bacilli staining (Zehl Nelsen stain and light microscopy)
 Culture
 Polymerase chain reaction ;PCR(of limited value)
 Recently , Gene Xpert MTB/RIF is a real-time PCR assay for M.
tuberculosis that simultaneously detects rifampin resistance

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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N.B For many forms of tuberculosis, the culture yield is only 25-50%. So,
negative cultures never exclude the diagnosis of tuberculosis in a child.
2. Chest X-ray: May reveal

Enlarged hilar lymph nodes Miliary TB; small miliary shadows 1-2
Localized emphysema mm (snow flake opacities).

Enlarged hilar lymph nodes T.B bronchopneumonia ;fluffy cotton

Localized collapse appearance

Pleural effusion Calcified granuloma (primary focus)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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3. Detect the pathology:

 Pleural biopsy
 Lymph nodes biopsy
 Bronchoscopy (for suspected endobronchial TB)
and biopsy
4. Pleural fluid examination:
 Color : Yellow with blood tinge
 Characters: Usually unilateral, massive; recollect after aspiration
 Cells : n lymphocytes but it is very rare to discover T.B bacilli
 Cultures of the fluid are positive in <30% of cases.
5. Blood: Elevated ESR

B. Tuberculous meningitis
 Lumbar puncture and CSF analysis, culture and PCR(See neurology)
 CT, MRI may detect tuberculoma; a tumor-like mass resulting from
aggregation of caseous tubercles

MRI of brain of a 3 yr old

child showing multiple
pontine tuberculomas
(Nelson 2016)

N.B The TST is nonreactive in up to 50% of cases, and 20-50% of children

have a normal chest radiograph.

C. Intestinal tuberculosis:
 Mesentric lymph node biopsy
 Ascitic fluid analysis

The presence of a positive TST or IGRA, an abnormal chest

radiograph consistent with tuberculosis, and history of exposure to
an adult with infectious tuberculosis is adequate for the probable
diagnosis of tuberculosis disease

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Treatment
Prevention
* BCG vaccine (see before)
* Milk sanitation (boil milk for10- 15 minutes before use)
* Isolate and treat infective cases with open pulmonary TB.
* Avoid contact with cases.
* Window prophylaxis:
ƒ For children who:
 Have unavoidable close contact to an adult with potentially contagious
tuberculosis disease and
 Have a negative TST or IGRA result
ƒ Break the contact with the source case for tuberculosis (i.e. physical
separation or adequate initial treatment of the source case) and Give INH
10 mg/kg/d for 3 months (the time delayed hypersensitivity develops)
ƒ Perform TST or IGRA at 3 months
 If positive result ( t 5 mm2 ) ĺ continue INH for 9 months
 If negative resultĺVWRS INH and INH resistant BCG can be given
ƒ Trace the possible adult source and treat adequately to prevent other
secondary cases.
Curative
A. General lines
 Good nutrition, fresh air
 Follow up carefully to promote adherence to therapy, and to monitor for
toxic reactions to medications
B. Anti-Tuberclous drugs
First line drugs
Drug Daily Twice weekly Side effects
dose* dose *
ƒ Isoniazide 10-15 Double the - Hepatotoxic
(INH) dose - Peripheral neuritis (?? add vit B6)
ƒ Rifampicin 10-20 Same - Hepatotoxic
- Red staining of secretions
ƒ Pyrazinamide 20-40 50 - Hepatotoxic
- Hyperuricaemia
ƒ Ethambutol 20 50 - Optic neuritis (usually reversible)
- Color blindness (green,red)
* mg/kg

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Alternative drugs
Used as additive drugs in
 Multiple drug resistant tuberculosis
 Life threatening tuberculosis e.g. T.B. meningitis.
Drug Dose (mg/kg/d) Side effects
ƒ Streptomycin 20-40 (I.M) Ototoxic & nephrotoxic
ƒ Ethionamide 15-20 (oral) Hepatotoxic (similar to INH).
ƒ Amikacin 15-30 (IM) As streptomycin
Regimens for treatment
The specific treatment plan must be individualized for each patient according to
the results of susceptibility testing on the isolates from the child or the adult
source case
1. Six months regimen
ƒ Standard therapy for intrathoracic tuberculosis and cervical
lymphadenopathy
ƒ Rifampicin and INH (for 6 months) + Pyrazinamide and Ethambutol (in
the1st 2 months) 1. Rifampicin
2. INH
3. Pyrazinamide
4. Ethambutol Rifampicin + INH
For 2 months For 4 months

ƒ When directly observed therapy is used: initial period as short as 2 wk of

daily therapy followed by intermittent (twice weekly) therapy is as
effective as daily therapy for the entire course.
2. Nine month regimen
ƒ Using only isoniazid and rifampin
ƒ Highly effective for drug-susceptible tuberculosis
ƒ Carry risk of initial drug resistance and poor compliance
3. In miliary T.B, meningitis and bone T.B
ƒ Extend treatment period for 9-12 months.
4. In drug resistance
ƒ Treatment is undertaken by a clinician with specific expertise
ƒ Initial treatment
 Isoniazid resistance Ÿ9 mo with rifampin, pyrazinamide, and
ethambutol
 Isoniazid and rifampin resistance Ÿ extend total duration of therapy
to 12-24mo, and avoid twice-a-week regimens
5. Latent TB infection: isoniazid for 6-9 months

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Steroids in T.B
Used in
1- Miliary tuberculosis o to improve the general condition
2- Endobronchial tuberculosis with localized emphysema.
3- Enlarged hilar lymph nodes with airway obstruction.
4- Tuberculosis of serous cavities e.g Pleurisy , Pericarditis , Meningitis
5- Adrenal tuberculosis
Precautions
1- Under umbrella of antituberculous drugs.
2- Dose 2 mg/kg/d for 4-6 weeks followed by gradual tapering.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Respiratory failure

Definition: Failure of the lungs to keep normal level of arterial blood gases( O2 & CO2)
Peripheral(type I) Central (type II)
Causes - Airway obstruction e.g asthma - Brain : hemorrhage,drugs
- Pneumonia - Neuromuscular: spinal muscle
- Pneumothorax atrophy, Guillian Barre syndrome
- Massive effusion - Skeletal: severe kyphosis, scoliosis
Clinically * Manifestations of the cause * Manifestations of the cause
* Respiratory distress * Irregular , shallow respiration
* Mainly hypoxemia: irritability * Mainly hypercapnia: cyanosis,
restless, dizziness , cold pale lethargy, headache and impaired
extremities consciousness
ABGs pPaO2 – nPaCO2 – ppH
Treatment Treat the cause Treat the cause
Oxygen therapy(See neonates) Ventilation

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
‫‬

‫\‪ 1HSKURORJ‬‬
‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‪.‬‬
‫ﺩﻋﻮﺍﺗﻜﻢ‬ ‫ﺭﻓﻌﻪ ﺩ‪ .‬ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‪.‬‬

‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‪14‬‬
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Structure of the Nephron
x Nephrons are the structural and functional units of the kidneys that carry out
processes that form urine
x Each nephron consists of a renal corpuscle composed of a tuft of capillaries (the
glomerulus), surrounded by a glomerular capsule (Bowman’s capsule) and a renal
tubule. The renal tubule begins at the glomerular capsule as the proximal
convoluted tubule, the loop of Henle, and turns into a distal convoluted tubule
before emptying into a collecting duct.
x The collecting ducts collect filtrate from many nephrons, and extend through the
renal pyramid to the renal papilla, where they empty into a minor calyx

Note: - Efferent arterioles provide blood supply to the whole renal tubules
- Erythropoietin is produced by peritubular capillary endothelium cells

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Functions of the Nephron
Glomerular filtration: Reabsorption at the PCT (Main bulk)
ƒ Plasma is passively filtered through the ƒ Sodium: 65-70% of filtered by active
glomerular capillary walls. transport by Na-K pump
ƒ The ultrafiltrate, which is cell free, ƒ Water :By osmosis (65-70% of filtered
contains all of the substances in plasma water) as obligatory water
(water,electrolytes, glucose, phosphate, reabsorption
urea, creatinine, peptides, low ƒ HCO3: Linked to sodium transport
molecular weight proteins) except ƒ Nutrients :100% of glucose, amino
proteins having a molecular weight of acids, vitamins by secondary active
Ӌ68 kd (e.g. albumin and globulins). transport
ƒ Phosphate (80% reabsorbed )
Loop of Henle: ƒ Ions: Ca,Mg,K by passive diffusion
ƒ Na,K,Cl:
active Distal tubules :( DT)
transport by ƒ Early DT has Na+-Cl-
Na-K-2Cl cotransporters (inhibited
cotransporter by Thiazide diuretics)
in ascending ƒ Late DT has Na+ (and
limb(These K+) channels that are
transporters increased by aldosterone
are the targets hormone (inhibited by K
for loop sparing diuretics e.g.
diuretics Ameloride).Net result is
e.g Furosemide) Na reabsorption and
ƒ Water :By secretion of either K+ or
osmosis (10% H+ and
of filtered ƒ Water reabsorption
water) in follows Na
descending ƒ Reabsorption of Ca
limb helped controlled by parathyroid
by ADH hormone

Collecting ducts:
x Like late DT, the collecting tubule has Na+ (and K+) channels induced by Aldosterone
x Water reabsorption secondary to Na reabsorption and passive osmosis 2ry to interstitial
hypertonicity with help of Antidiuretic hormone

Summary of renal functions:

1. Control body water
2. Get rid of waste e.g. Blood urea nitrogen , creatinine, H+, excess K+, Drugs
3. Regulation of acid –base balance by:
R About 90% of filtered bicarbonate is absorbed in the proximal tubule aided by
carbonic anhydrase (CA)
R Secretion of hydrogen ion as titratable acid or as NH4+ at the distal tubule
4. Hormonal role e.g. Release of Erythropoietin, Activation of vit D

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Estimation of Glomerular Filteration Rate (GFR)

- Formation of nephrons is complete at 36-40 wk of gestation, but functional
maturation with tubular growth and elongation continues during the 1st decade of
life
- Because new nephrons cannot be formed after birth, any disease that results in
progressive loss of nephrons can lead to renal insufficiency
Serum creatinine:
x Estimates the GFR in the steady state
x Insensitive measure of decreased renal function because its level does not rise
above normal until the GFR falls by 30-40%
Clearance tests (require timed urine collection)
ƒ The clearance is represented by the following formula:
Cs (mL min) = Us (mg mL) × V (mL min) Ps (mg mL)
Where Cs equals the clearance of substance s, Us reflects the urinary
concentration of s, V represents the urinary flow rate, and Ps equals the
plasma concentration of s.
ƒ To correct the clearance for body surface area, the formula is
Corrected clearance (mL/ m/1.73m2) = C (ml/min) ×1.73/Surface area (m2)
ƒ Clearance substances
- Exogenous: Inulin clearance (Gold standard – Difficult)
- Endogenous: Creatinine clearance
Formula in pediatrics:
1. Haycock-Schwartz formula
eGFR = k × ht / Pcr
eGFR Estimated glomerular filtration rate(in ml/min/1.73m2)
k Empirical value relating height to muscle mass
= 0.33 for LBW infant
= 0.45 for Full term infant
= 0.55 for child or adolescent girl
= 0.7 for adolescent boy (13-18 years old)
ht Height in centimeters
Pcr Plasma concentration of creatinine in mg/dl
When timed urine collection is not possible, simply Haycock-Schwartz formula is
the best, easiest and cheapest way to assess GFR.
2. DTPA scan: Can assess split functions of both kidneys

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Control of renal hemodynamics occurs through the following mechanisms:
1. Renin-Angiotensin-Aldosterone System (RAAS) primed by Juxtaglomerular
apparatus (JGA): composed of two cell types, macula densa cells(modified
distal tubular cells) and juxtaglomerular cells, located at the junction of the
afferent and efferent arterioles

- Low renal vascular flow

- Low sodium delivery at the
macula densa cells

Stimulate release of Renin from the

juxta glomerular cells

Renin converts angiotensinogen

released by the liver to Angiotensin I

Angiotensin I is converted to
Angiotensin II in the lungs by
Angiotensin Converting Enzyme (ACE)

Angiotensin II
- A very potent systemic vasoconstrictor
- Stimulates release of Aldosterone by supra renal gland

Increase renal blood flow

Aldosterone is secreted by supra renal gland zona

glomeruloza. It enhances distal tubular salt and water
retention in exchange with H+ or K+

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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2 Illustrated Baby Nelson

2. Intra renal prostaglandins

ƒ PGE2 and prostacyclin [PGI2] are vasodilators
ƒ They counteract primarily angiotensin II–mediated vasoconstriction
ƒ Nonsteroidal anti-inflammatory drugs (NSAIDs) such as aspirin will block
prostaglandin synthesis and restrict the compensatory renal vasodilation
3. Atrial natriuretic peptide (ANP)
ƒ Is released from the right cardiac atrial myocytes in response to stretch (at
high blood volume)
ƒ ANP dilates the afferent arteriole, and constricts the efferent arteriole,
increasing glomerular capillaries hydrostatic pressure, and thus, GFR.
ƒ The enhanced flow increases sodium and water excretion, reducing blood
volume.

Blood filtrate barrier ultrastructure

1. Epithelial cells (Podocytes)
2. Glomerular basement membrane
3. Endothelial cells

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
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3 Illustrated Baby Nelson

Hematuria
Definition
ƒ Macroscopic (Gross) hematuria: Blood in the urine visible to the naked eye
ƒ Microscopic hematuria:
- More than 5 red blood cells (RBCs) per high-power field on freshly
voided and centrifuged urine
- Isolated asymptomatic microscopic hematuria is found in up to 4% of
healthy children.
Presentation
ƒ Episode of macroscopic hematuria (causes alarm to child/family).
ƒ Incidental finding of microscopic hematuria.
ƒ Family screening and routine urinalysis.
Other causes of ‘red urine’
The following can usually be distinguished from hematuria by taking a
careful history, and with urine dipstick testing and microscopy:
A. Pathologic
- Hemoglobinuria
- Myoglobinuria
B. Non pathologic
- Foods coloring (e.g. beetroot).
- Drugs (e.g. rifampicin).
- Urate crystals (in young infants, usually ‘pink’ nappies).
- External source (e.g. menstrual blood losses).
- Fictitious: consider if no cause found
Causes of haematuria
A. Glomerular
1. Immunologic injury :Glomerulonephritis (GN)
2. Structural disorder (Alport syndrome, thin basement membrane disease)
3. Toxin-mediated injury (HUS)
B. Extra Glomerular
R Tubulo interstitial/Parenchymal
a. Inflammation (interstitial nephritis, pyelonephritis)
b. Vascular (sickle cell trait/disease, renal vein thrombosis)
c. Structural (cyst rupture, Wilms tumor, urinary tract obstruction, trauma)
R Lower urinary tract
a. Inflammation (cystitis, hemorrhagic cystitis, urethritis)
b. Injury (trauma, kidney stone)
c. Hypercalciuria
(Essential Nelson)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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2 Illustrated Baby Nelson

Glomerulonephritis (GN)
Definition: Group of diseases with acute glomerular injury. Initiated in most
cases by immunologic mechanism. With variable presentation of:
- Acute kidney injury (AKI) (oliguria, uremia, elevated creatinine)
- Hematuria
- Hypertension
- Peripheral edema
- Proteinuria
Classification

With low serum complement (C3,CH50) With normal serum complement

Renal disease Renal disease
ƒ Acute post infectious GN (> 90%) ƒ IgA nephropathy
- Post streptococcal GN
- Other infections: e.g. staph,
pneumococci, HBV, ….
ƒ Membranoproliferative GN type 1
Systemic disease Systemic disease
ƒ Chronic Post infectious GN: ƒ Vasculitis
- Infected shunt ƒ Henoch-Schönlein purpura
- Infective endocarditis ƒ Goodpasture’s syndrome
ƒ Lupus nephritis

Acute Post Streptococcal Glomerulonephritis (APSGN)

Definition and Etiology
x Acute Nephritic syndrome which follow infection with nephritogenic strain of
group A-E hemolytic streptococci causing throat infection or skin infection
x Streptococcal pyogenic exotoxin (SPEB) mimic glomerular basement membrane

Post pharyngitis GN Post skin infection GN

Stains of strept. - Serotypes :1,3, 4,12,18 - Serotypes :2,49,55,57
Season - Cold(winter) - Tropical(summer)
Sex incidence ( M: F ratio) - 2:1 - 1:1
Susceptible age - School age - Pre School age
Latent period - 1-2 weeks - 2-6 weeks; typically in
child with eczema
Serology:
ASO titer - Elevated - May be absent
Anti DNAse B - Elevated - Elevated

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
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3 Illustrated Baby Nelson


Pathogenesis
Streptococcal infection Latent- period Antibodies
p
Antigen + Antibody + Complement (C3) immune complexes
p
Deposited in glomerular basement membrane (subepithelial humps)
p
Acute inflammation
Proliferation of mesangeal and Glomerular endothelial damage
endothelial cells. p
p Hematuria ± proteinuria
Glomerular capillaries narrowing.
p
Impaired Glomerular blood flow

p Glomerular filtration rate. + + Juxta-glomerular apparatus (JGA)

p
Fluid retention + + Renin- Angiotensin Aldosteron system
p p
Oliguria Hypervolemia Hypertension
p
Edema

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
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2 Illustrated Baby Nelson


Clinical picture
Mean age: 7 years.
History of a preceding skin or throat infection 1-3 weeks ago may be obtained
Gradual or sudden onset of:
1. Hematuria : - The 1st presenting feature
- Painless
- Cola colored (smoky) urine or bloody
with gross hematuria
- Urine rarely appears normal with
microscopic hematuria

2. Edema : - 2nd presenting feature

- Mild, morning periorbital puffiness & pretibial edema
- Mainly due to reduced GFR and hypervolemia
3. Oliguria : - Urine output (UOP) < 1 ml/kg/hr or < 400 ml/m2/day
- Some others have anuria or rarely normal urine volume
4. Hypertension : - Transient ; mostly resolves by the end of 1st week
- Mild to severe
- Seen in 60-70% at any time in the acute phase
- Principally due to salt and water retention
5. Nonspecific: - Headache, anorexia, vomiting, abdominal pain, mild fever.
6. Some cases are asymptomatic and discovered accidentally on routine
urinalysis
Complications: May be the presenting event
1. Heart Failure and acute pulmonary edema
ƒ Due to hypertension or hypervolemia
ƒ Clinically
R Respiratory distress and orthopnea
R Tachycardia, tachypnea, tender liver
R Acute pulmonary edema
- Severe respiratory distress
- Cyanosis
- Wide spread crepitations
2. Hypertensive encephalopathy
ƒ Due to acute hySHUWHQVLRQĺcerebral edema ± hemorrhages
ƒ Clinically
R Severe headache
R Blurred vision
R Vomiting ĺFRQYXOVLRQVĺFRPD

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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3. Acute renal failure (ARF)

ƒ Due to rapidly progressive (crescentic) GN
ƒ Usually transient
ƒ Clinically
R Marked oliguria or anuria
R Acidotic breathing
R Uremic encephalopathy

Investigations
A. For diagnosis ĺUrinalysis
ƒ Color: Smoky or gross hematuria.
ƒ Specific gravity: High
ƒ Proteinuria: Usually ‫ޒ‬1gm/dl (nephrotic range is seen in 10-20%)
ƒ Microscopy: Dysmorphic RBCs / RBCs casts which is pathognomonic to
glomerular bleeding
ƒ Timed urine output collection or 24 hours collection can prove
oliguria/anuria
B. For effect
ƒ (OHFWURO\WHVĺPD\EHK\SHUNDOHPLD GLOXWLRQDOK\SRQDWUHPLD
ƒ Renal function WHVWVĺ may be impaired.
ƒ $QHPLDĺGXHWRKHPodilution
C. For etiology
x Low complement component C3 (Normal C4)
x Evidence of recent streptococcal infection:-
- Throat or skin lesion swab culture
- Anti- streptolysin O (ASO) titer ĺ!WRGGXQLWPD\EH
negative after skin infection. ( ASO titer is raised in up to 20% of
healthy children)
- Anti Deoxyribonuclase B titre (Anti- DNase B).
x Renal biopsy is indicated for :
a. In acute phase:
ƒ Nephrotic syndrome ( nephritic nephrosis)
ƒ Rapidly rising creatinine suggesting rapidly progressive
glomerulonephritis
b. For prognosis in atypical course
ƒ Abnormal creatinine at 6 weeks
ƒ Low C3 > 3 months
ƒ Proteinuria > 6 months

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Light microscopy

Glomerulus is
- Hypercellular
- Capillary loops are
poorly defined.
- Massive influx of
neutrophils

Immunofluorescence microscopy

Reveals:
“lumpy-bumpy” deposits of
immunoglobulin and
complement on the glomerular
basement membrane (GBM)
and in the mesangium

Electron microscopy

Reveals:
Glomerular subepithelial
cone-shaped electron-dense
deposits, referred to as
“humps.”

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Course
- Nephritis manifestations usually resolve by 2-3 weeks
- C3 normalize by 6-8 weeks of onset
- Abnormal urinalysis improve within 4-8 weeks of onset
- Microscopic hematuria may persist for 1-2 years with no long term relevance
Differential diagnosis:
From other causes of Hematuria (see later)
Treatment
1. Bed rest as needed by the patient or with complications
2. Course of penicillin for 10 days is necessary to prevent spread to contacts
but will not help the nephritis.
3. Diet
ƒ Assess fluid balance
ƒ Fluid restriction:
- In oligo-anuria to avoid hypervolemia.
- Intake = urine output plus insensible loss (200-400ml/m2/d or 20-40
ml/kg/day) plus any additional losses (vomitus or diarrhea)
- Given as 0.45% saline /2.5 % dextrose or 0.45% saline /5-10 %
dextrose in infants
ƒ Salt restriction
ƒ Potassium and prRWHLQUHVWULFWLRQĺRQO\ZLWKUHQDOIDLOXUH
ƒ Provide calories (reduce catabolism) by giving enteral Maxijul 10-
20% via naso-gastric tube
4. Hypertension (Elevated blood pressure):
Mild to moderate hypertension Severe hypertension
- Fluid restriction - Furosemide
- Furosemide 2-5 mg/kg IV - Na nitroprusside (infusion)
- ACE inhibitor e.g Captopril - Hydralazine
- Angiotensin Receptor Blockers - Diazoxide (i.v. push).
- Nifidipine or Amelodipine.
5. Treat Complications (Failures):
— Heart failure: Treatment depends on the underlying cause:
R Hypertensive KHDUWIDLOXUHĺWUHDWK\SHUWHQVLRQ
R Hypervolemic KHDUWIDLOXUHĺGLXUHWLFV“GLDO\VLV
— Acute renal failure:
R Conservative treatment with or without peritoneal
dialysis(see later)
R Cresentic nephritis on biopsy may benefit from
immunosuppression e.g. pulsed IV methyleprednisolone
(Oxford Pediatric Nephrology)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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6. Discharge from hospital (Go home) if there is:

R No gross hematuria
R Normal renal functions
R No or controlled hypertension
Prognosis
- Over 95% of post streptococcal glomerulonephritis recover completely
- Less than 5% go into rapidly progressive glomerulonephritis may end in
chronic renal failure.
- Mortality is due to heart failure, hypertension and renal failure
- Recurrence is extremely rare

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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IgA Nephropathy (Berger Nephropathy)

ƒ IgA nephropathy is an immune complex disease
ƒ It is characterized by a predominance of IgA within mesangial deposits of the
glomerulus in the absence of systemic diseases such as systemic lupus
erythematosus or Henoch-Schönlein purpura.
ƒ The most common chronic glomerular disease worldwide.
Clinical
ƒ Recurrent gross (macroscopic )hematuria*
- Commonest presentation
- Occur 1-2 days following upper respiratory tract infection
ƒ Asymptomatic microscopic hematuria u proteinuria.
ƒ Nephritic syndrome
ƒ Nephrotic syndrome
ƒ Nephritic-nephrotic syndrome.
ƒ Progressive renal dysfunction in adulthood.
Diagnosis
ƒ Normal serum levels of C3
ƒ Serum IgA levels have no diagnostic value
ƒ Renal biopsy : mesangeal deposits of IgA
Treatment
There is no accepted treatment regimen; most are controversial.
A. Microscopic hematuria /recurrent gross hematuria:
- Of no clinical significance
- Tonsillectomy is advised by some investigators
- Some reports suggest vit E
B. Proteinuria & hypertension
- ACE inhibitors & angiotensin II receptor antagonists
C. Patients with adverse risk factors:
ƒ Treat proteinuria and hypertension
ƒ Immunosuppression including: steroids azathioprine, cyclophosphamide,
mycophenolate mofenil (MMF)
ƒ Fish oil (contains anti-inflammatory omega-3 fatty acids)
- May decrease the rate of renal progression in patients with
progressive disease
- Preparation : Omacor capsule and Maxepa syrup
- Main side effect is halitosis and none adherence
D. Successful renal transplantation
Recur in only 15–30% of patients

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Rapidly Progressive (Crescentic) Glomerulonpehritis

Crescents in the majority of glomeruli progress rapidly to end-stage renal failure.
Causes
1- Immune complex glomerulonephritis:
- Post-streptococcal glomerulonephritis.
- Henoch Shönlein purpura
- IgA nephropathy
- Lupus nephritis
- Membranoproliferative GN (MPGN)
2- Anti Glomerular Basement Membrane GN
(Good Pasture Syndrome):
ƒ Pulmonary hemorrhage and glomerulonephritis associated with antibodies
against lung and against glomerular basement membrane (anti-GBM)
ƒ Hemoptysis: is usually the presenting complaint (that may lead to death).
ƒ Hematuria, proteinuria, and progressive renal failure
ƒ Anti-GBM antibodies confirm the diagnosis
3- Idiopathic.
4- ANCA mediated glomerulonephritis (Wegner granulomatosis)
Pathology
ƒ Characteristic Crescents inside Bowman capsule composed of:
- Proliferating epithelial cells
- Fibrin
- Basement membrane like material
- Idiopathic form: absent deposits; only crescents.
Clinical picture:
Suspected in acute nephritic episode leading to acute renal failure
Diagnosis
1- Serologic studies e.g. C3, anti-Dnase-B,….
2- Renal biopsy

Prognosis and Treatment

œ Spontaneous recovery may occur with post streptococcal type
œ Treatment options (choice is cause related):
- Pulsed methyle prednisolone / oral prednisone
- Plasma exchange
- Cyclophosphamide
- Biological agents: Rituximab, Anti-TNF therapy
- Supportive care of ARF e.g. Dialysis

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Hemolytic Uremic Syndrome (HUS)

Definition
ƒ One of the most common causes of community-acquired acute kidney
failure in young children
ƒ It is characterized by the triad of : Microangiopathic hemolytic anemia
thrombocytopenia, and renal insufficiency
Causes
1. Infection induced
ƒ Often preceded by acute bloody diarrhea (Typical HUS) caused by:
- Vero toxin -producing E. coli (Enterohemorrhagic E coli); mainly
O157:H7 (Europe , America)
- Shiga toxin producing Shigella dysenteriae type 1 (Asia-Africa)
9 Transmitted by undercooked meat or unpasteurized milk
9 Epidemics have followed ingestion of undercooked, contaminated
hamburger at fast food restaurants
ƒ Neuraminidase (T antigen) -producing Strept.pneumonia is a rare cause.
2. Other less common causes
Genetic (inherited HUS)
- Defective Von Willebrand factor–cleaving protease (ADAMTS 13)
- Defective Complement factor H, I, or B
- Defects in vitamin B12 metabolism
Secondary HUS
- Antiphospholipid syndrome
- Systemic lupus.
- Drugs (Cyclosporin ,chemotherapy)
- Bone marrow transplantation
Pathogenesis
TR[LQVEDFWHULDO RWKHUVĺ/HXFRF\WHVĺn tumor necrosis factor &
interleukin 2

n O2 Free radicles. n Procoagulants

p
endothelial damage

Intra vascular thrombi

Damaged circulating RBCs & platelets Glomerular obstruction

Micro angiopathic hemolytic Anemia Acute renal failure

/ Thrombocytopenia. /Hematuria

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Clinical picture
ƒ Common age: most common in preschool and school-aged children
ƒ Acute diarrhea (often bloody) or respiratory infection is followed few days
later by :
- Acute hemolysis ĺ Acute pallor, jaundice and purpura
- Acute renal failure ĺ Oliguria, edema, hypertension, acidotic
breathing.
- Hematuria and may be hemoglobinuria
ƒ Genetic forms
- Onset is insidious
- Triggered by a variety of illnesses, including mild, nonspecific
gastroenteritis or respiratory tract infections
ƒ Complications:
- Acute renal failure
- Acute heart failure (hypervolemia, hypertension, anemia)
- $FXWHQHXURORJLFG\VIXQFWLRQHQFHSKDORSDWK\LQ”
Workup
For diagnosis
For ARF - High creatinine and blood urea nitrogen
- High potassium
- Metabolic DFLGRVLVĻS+Ļ3D&22Ļ+&23)
For MAHA - Anemia
- Reticulocytosis
- Negative Coombs test (except pneumococci-induced HUS)
- Blood Film: IUDJPHQWHG5%&V+HOPHW¶VFHOOV, shistocytes)
For bleeding - Thrombocytopenia counts usually 20,000-100,000/mm3.
- &RDJXODWLRQSURILOHĺ1RUPDO (unlike DIC)
Urinalysis - Hematuria and may be hemoglobinuria
For etiology
- History of diarrheal prodrome or pneumococcal infection
- If history is negative, consider evaluation for genetic causes
- Stool culture is often negative in diarrhea-associated HUS (even, risk of
developing HUS with intestinal E.Coli 0157:H7 is only 10%)
Differential diagnosis
1. From other causes of intrinsic renal failure
2. From other causes of microangiopathic hemolytic anemia: e.g.
- Bilateral renal vein thrombosis (Marked renal enlargement , Doppler)
- DIC

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Treatment
i. Prevention
- Adequate cooking of meat (especially Hamburger)
- Isolation of cases to avoid cross infection with E.coli
ii. Curative
ƒ Rules of management
- Early recognition of the disease
- Monitoring for potential complications
- Meticulous supportive care
ƒ ARF
- Meticulous fluid and electrolyte management
- Early dialysis or hemofiltration is usually indicated
- Treatment as for intrinsic acute renal failure
ƒ Packed RBCs
- May be repeated in active phase as hemolysis take up to 2 weeks
- For hemoglobin ‫ޒ‬JUDPGO
- In pneumococci-associated HUS use washed red cells (remove
residual plasma containing IgM directed against T antigen )
ƒ Platelets
- Should generally not be administered(consumed by the active
coagulation and can theoretically worsen the clinical course)
- Considered only if elective surgery is indicated or with ICH
ƒ Others
- Antibiotics can result in increased toxin release, potentially
exacerbating the disease. It is not recommended except for any
underlying pneumococcal infection
- Plasma infusion or plasmapheresis is considered for serious CNS
involvement and in atypical HUS
- Eculizumab; Mono clonal antibody against C5 is promising in
atypical (genetic) HUS, even in patients resistant to plasma therapy.
Prognosis
9 Course is unpredictable
9 HUS can be relatively mild or can progress to a severe, and even fatal,
multisystem disease
9 More than 50% require dialysis ; 5% remain dependent on dialysis, and
up to 20-30% are left with some level of chronic renal insufficiency.
9 Patients who have recovered completely, with no residual urinary
abnormalities after a year, are unlikely to manifest long-term sequelae

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Alport Syndrome
Definition
ƒ Multisystem disorder : Hereditary nephritis, sensineural deafness and
often eye abnormalities
ƒ Classical Alport syndrome is due to mutations in Į chain of type IV
collagen (COL4); a major component of basement membranes.
Genetics
ƒ Mainly X- Linked disease (85%) caused by a mutation in the COL4 Į 5
gene; some are associated with diffuse leiomyomatosis.
ƒ Autosomal recessive or autosomal dominant form (less common).
Clinical manifestations
L5HQDOPDQLIHVWDWLRQV
1. Hematuria
- Affects 100 % of males and 95% carrier females
- Asymptomatic microscopic hematuria, which may be intermittent
- Recurrent gross hematuria*
2. Proteinuria
- Common in males; may be absent, mild, or intermittent in
females.
- Progressive by the second decade of life
Renal pathology
ƒ Light : non specific
ƒ Electron microscopy

Reveals:
- Diffuse thickening, thinning, splitting of the basement
membranes of the glomeruli &tubules
- Lamellation of the basement membrane (basket wave pattern)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Prognosis
ƒ ESRD occurs before age 30 years in approximately 75% of hemizygotes
with X-linked AS.
ƒ Risk factors for progression
- Gross hematuria during childhood.
- Nephrotic syndrome.

LL([WUD5HQDOPDQLIHVWDWLRQV
Hearing deficits
ƒ Affects 90% of males with X-linked AS, less common in cases with
autosomal recessive AS, and only 10% of heterozygous females with X-
linked AS.

- Bilateral sensorineural hearing loss

(Never congenital in onset)
- Starts for the high-frequency range
but progresses to involve
conversational speech
- Hearing aids are eventual.

Ocular abnormalities
ƒ Mainly affects patients with X-linked

- Anterior lenticonus (extrusion of

the central portion of the lens into
the anterior chamber) is
pathognomonic
- Corneal erosions.
- Macular flecks.

Rarely
ƒ Leiomyomatosis of the
esophagus, tracheobronchial
tree and female genitalia
ƒ Platelet abnormalities

Endoscopic image of eosophageal submucosal

leiomyoma and endoscopic US

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Diagnosis
Requirements
- Family history
- Screening urinalysis of first-degree relatives
- Audiogram
- Ophthalmology exam
Diagnositic
ƒ Hematuria with anterior lenticonus is pathognomonic
ƒ Hematuria with at least two of the following characteristics:
- Sensorineural deafness
- GBM thickening and thinning (by EM)
- Macular flecks
- Recurrent corneal erosions
ƒ Basement membrane collagen studies.
Note
- Mutation screening or linkage analysis is not clinical use.
- Prenatal diagnosis is available for familial sex linked disease.
Treatment
9 No specific therapy for Alport syndrome.
9 Angiotensin-converting enzyme inhibitors may slow the rate of
renal progression.
9 Supportive treatment for renal failure (conservative, dialysis ,
kidney transplantation); 5% of renal transplant recipients develop
anti-GBM nephritis.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Approach to Hematuria
We should exclude other causes of red urine without RBCs by urine analysis
(Dipstick) which includes:-

A. Heme positive
ƒ Hemoglobinuria in case of acute hemolytic anemia.
- CBC shows fragmented RBCs & reticulocytosis
- Hemoglobin in urine
ƒ Myoglobinuria in case of rhabdomyolysis (myositis, crush )
- High serum creatine kinase.
B. Heme negative - Foods e.g. Beet roots, black berries.
- Drugs e.g. Rifamipicin, Desferal, Nitrofurantoin.
- Urate crystals (red diaper).
History
ƒ Glomerulonephritis: sore throat/rashes/body swelling
ƒ UTI: fever/frequency/dysuria.
ƒ Renal stones: colicky abdominal pain/family history.
ƒ Coagulopathy: easy bruising.
ƒ Trauma
ƒ Family history: hematuria, deafness (Alport’s), sickle cell disease.
Examination
ƒ Blood Pressure (use age,sex and height appropriate blood pressure centiles)
ƒ Abdomen: palpable masses (polycystic kidneys, tumors, hydronephrosis).
ƒ Skin: rashes.
ƒ Joints: pain/swelling.
Investigations
x It is important to identify serious, treatable, and progressive conditions.
x During an acute illness, exclude UTI by urine culture.
x Asymptomatic or ‘benign haematuria’ in children without growth failure,
hypertension, oedema, proteinuria, urinary casts, or renal impairment is a
frequent finding.
1. Localize hematuria
Glomerular Extra glomerular
Acute nephritic syndrome Present Absent
Color Cola or tea colored Bright red
Clots Absent May present
RBCS Shape Dysmorphic (distorted) Normal
RBCS casts Present Absent
Proteinuria > 30 mg / dL. < 30 mg / dL.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Typical appearance of RBCs in glomerular Typical appearance in non-glomerular

hematuria: RBCs are small and vary in hematuria: RBCs are uniform in size and
size, shape, and hemoglobin content shape, along with numerous polymorphs

(Consensus Statement on Evaluation of Hematuria, Indian Pediatrics 2006)

2. For Glomerular hemturia:

ƒ Hematology
- CBC with differential
ƒ Chemistry
- Electrolytes, Ca
- BUN/ Creatinine /Creatinine clearance
- Serum protein/Albumin /Cholesterol
- Urine protein
ƒ Immunology
- C3/C4
- ASO/Anti-DNase B
- ANA
- Antineutrophil antibody

Reduced C3 in - Post infectious glomerulonephritis

- Systemic lupus nephritis (and low C4)
- Nephritis with chronic infection
- Membrano proliferative glomerulonephritis
3. Renal Biopsy
- Unexplained persistent or recurrent gross hematuria
- Lupus nephritis
- Glomerulonephritis with: o nephritic nephrosis
o Absent low C3
- Unexplained acute renal

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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4. For extra glomerular hematuria

Step 1
- Urine culture
Step 2
- Urine calcium/creatinine ratio
- Sickle prep (African American)
- Renal/bladder ultrasound
Step 3
- Urinalysis: siblings, parents
- Serum electrolytes, Cr, Ca
- If crystalluria, urolithiasis, or nephrocalcinosis: 24-hour urine for Ca,
creatinine, uric acid, oxalate
- If hydronephrosis/pyelocaliectasis: Cystogram, renal scan
(Nelson textbook of pediatrics)
Treatment
ƒ If obvious cause (e.g. UTI), treat.
ƒ If complex diagnosis (impaired renal function, proteinuria, or family
history) refer to paediatric nephrology unit.
ƒ If no cause found and normal renal function, BP, and no proteinuria,
monitor until resolves.
ƒ If no resolution after 6mths or change in any of above parameters refer to
paediatric nephrology unit.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Proteinuria
Normal values
ƒ Most of the proteins filtered by the glomeruli are reabsorbed by the proximal
convoluted tubules.
ƒ The normal daily urinary protein loss is < 4 mg/m2/hr or < 150 mg/24hr.
Detection
1. Urine dipstick analysis (Albustix)
ƒ Less sensitive; affected by urine specific gravity and pH.
ƒ Primarily detects albuminuria ; less sensitive for other forms of proteinuria
ƒ Reported as:
- Negative
- Trace (10-20mg/dl)
- 1+ (30 mg/dl)
- 2+ (100mg/dl)
- 3+ (300 mg/dl)
- 4+ (1000–2000mg/dl)
2. Timed (24-hr) urine collections
ƒ Quantitative for proteinuria (not practical)
ƒ Normal value < 4 mg/m2/hr.
ƒ Abnormal 4 – 40mg/m2/hr.
ƒ Nephrotic range > 40 mg/m2/hr or > 50 mg/kg
3. Spot urine protein: creatinine ratio (UPr: UCr)
ƒ Quantitative for proteinuria and more practical timed urine collections
ƒ Use early morning urine sample
ƒ Normal value < 0.5 (<LQFKLOGUHQ• yr)
ƒ Nephrotic-range proteinuria > 2
Causes of proteinuria
i. Transient proteinuria (Never exceed 2+):
- Postural or orthostatic : Proteinuria in upright posture only.
- Non postural: - Fever, vigorous exercise, seizures
ii. Persistent proteinuria
Tubular Glomerular
Due to Decreased reabsorption of Increased glomorular basement
filtered proteins. membrane (GBM) permeability.
Level Usually < 1gm/24 hours Can exceed 1gm/24 hours
Type Low molecular weight proteins Low and high molecular weight
proteins
Albuminuria Absent. Present.
Associations Other proximal tubular defects Edema.
e.g glucosuria, phosphaturia May be hypertension, hematuria.
Causes Fanconi syndromes - Damage to GMB, e.g. GN
(Cystinosis, Lignac,…… …) - Dysfunction of GBM e.g.:
Minimal change nephrotic syn.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Nephrotic Syndrome
Definition: Clinico-laboratory condition characterized by:-
ƒ Nephrotic range proteinuria defined as urinary proteins > 40 mg/m2/hr or
a first morning protein : creatinine ratio of > 2-3 : 1
ƒ Hypoalbuminemia
ƒ Generalized edema
Hyperlipidemia
Incidence: 15 times commoner in children than adults
Causes of Nephrotic Syndrome
1. Idiopathic (? Lymphocyte dysfunction o altered GBM permeability)
R 90% of cases
R Histologic types
- Minimal change disease (85%)
- Focal segmental glomerulosclerosis
- Membranous nephropathy
2. Genetic nephrotic syndrome
- Finnish-type congenital nephrotic syndrome (absence of nephrin)
- Focal segmental glomerulosclerosis (podocin, actinin mutations)
- Diffuse mesangial sclerosis (laminin mutations)
- Denys-Drash syndrome (mutations in WT1 transcription factor)
3. Secondary nephrotic syndrome
Due to Examples
Glomerulonephritis with - Systemic lupus nephritis
heavy proteinuria - Henoch Schonlein purpura
Infection - Hepatitis B, C
- HIV-1
- Malaria
- Syphilis
- Toxoplasmosis
Allergy - Serum sickness
- Bee sting
Drugs - Penicillamine
- Gold salts
- Interferon
- Nonsteroidal anti-inflammatory drugs
Diseases - Sickle cell disease
- Amyliodosis
- Thrombosis of renal veins
Tumors - Hodgkin lymphoma /Leukemia

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Histological classification
1. Minimal change nephrotic syndrome (MCNS)
ƒ Light microscopy and LPPXQRIORUHVFHQFHĺQRUPDO
ƒ (OHFWURQPLFURVFRS\ĺORVs
of podocytes foot processes.
ƒ Proteinuria is selective
ƒ Steroid responsive in > 95%.
ƒ In prolonged cases as in relapses or resistance WRWUHDWPHQWĺPRUH
notable changes are seen as focal glomerulosclerosis

Electron microscopy photo of a normal Electron microscopy photo of a glomerulus in

glomerulus with epithelial cells with MCNS showing diffuse effacement of epithelial
normal loose foot processes foot processes

2. Focal segmental glomerulosclerosis (FSGS):

ƒ Light and electron microscopy ĺSegmental sclerosis
ĺFocal sclerosis
ƒ Steroid responsive in < 20%.

3. Mesangeal proliferative glomerulonephritis

ƒ Light and HOHFWURQPLFURVFRS\ĺLQFUHDVHPHVDQJHDOFHOOV PDWUL[
ƒ Steroid responsive in < 50%.

4. Membranous
ƒ Light & electron microscopy:
- Uniform thickening of glomerular basement membrane
- Focal sclerosis as the disease progress

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Idiopathic Nephrotic Syndrome

Pathogenesis

1. Proteinuria
* Due to increased glomerular basement membrane (GBM) permeability
(Due to defect in size or altered negative charges of GBM barriers)
 
Proteinuria is either

- Selective = escape of low molecular - Non selective = escape of both

weight proteins as albumin. low & high molecular weight
proteins

 
2. Hypoproteinemia
Decreased WRWDOVHUXPSURWHLQVĺbasically hypoalbuminemia

3. Hyperlipidemia 4. Generalized oedema

   
Mainly hypercholestrolemia. 'XHWRĻSODVPDRVPRWLc pressure
Due to ĻSURWHLQV DOEXPLQ
Ļ
fluid shift to interstitial tissue
Hypoproteinaemia ĻOLSRSURWHLQ
Lipase (mainly in lax & gravity dependent)
Ļ Ļ Ļ
Stimulate Ļ/LSLG ĻLQWUDYDVFXODUYROXPH
the liver catabolism
Ļ
n$'+ĻRenal blood flow
ĹProtein synthesis Ļ
including lipoproteins ++ JGA
Ļ
n Aldosterone
Water UHWHQWLRQĻ
Salt and water retention

More oedema.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Clinical picture
9 Peak age in MCNS =2-7 years/ Boys: Girls 2:1
9 The initial episode and relapses may follow viral upper respiratory tract
infection.
1. Generalized edema
ƒ Start as morning periorbital puffiness then progress to involve lower
limbs,genitalia and abdominal wall with stretched skin and skin breaks
ƒ Oedema is very soft, pitting,
ƒ Ascites and pleural effusion are very commonĺPD\EHUHVSLUDWRU\
distress.
ƒ :LWKGHYHORSLQJHGHPDDQGLQFUHDVLQJZHLJKWĺXULQHYROXPHLV
declining

2. *DVWURLQWHVWLQDOPXFRVDORHGHPDĺDQRUH[LDDEGRPLQDOSDLQ GLDUUKHD
3. Hypertension may occur in only 5-10%.
Complications
1. Hypovolemia
ƒ Precipitated by ƒ Presentation
- Sepsis - Abdominal pain
- Diarrhea - Hypotension
- Use of diuretics - Poor perfusion
- Hemoconcetration

2. Acute renal failure (Nephrotic crisis)

ƒ Precipitated by
- 6HYHUHK\SRYROHPLDĺpp renal blood flow (pre renal failure).
- Renal vein thrombosis.
- Sepsis

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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3. Intra vascular thrombosis

ƒ Precipitated by
- +\SRYROHPLDĺKHPRFRQFHWUDWLRQĺVOXJJLVKFLUFXODWLRQ
- Increased platelet adhesiveness and certain coagulation factors.
- Decreased natural anti-coagulants e.g. Anti thormbin III and protein C.
ƒ Common sites

Cerebral cortical veins Renal veins Deep venous thrombosis

4. Infections
ƒ Precipitated by
- Loss of immunoglobulins and complement factor B
- Edema or ascites acting as a potential culture medium
- Immuno suppressive therapies
ƒ Common infections: basically by capsulated bacteria and viruses
- Spontaneous bacterial peritonitis (Strept. pneumoniae, E.Coli)
9 Child looks ill, feverish with persistent abdominal pain
9 Prompt evaluation (including cultures of blood and peritoneal
fluid), and early initiation of antibiotic therapy are critical.
- Others: urinary tract infections (E.coli) ,pneumonia (H. influenza),
cellulitis (Staph aureus), and sepsis
5. Relapse
ƒ Recurrence of significant proteinuria ;urine Albustix ++ or more for 3
consecutive days
ƒ Frequent Relapsing Nephrotic Syndrome (FRNS): Relapses 4 or more
within 12 months period.
ƒ Steroid Dependent Nephrotic Syndrome (SDNS): nephrotic syndrome that
relapses during steroid tapering or immediate after steroid withdrawal.
6. Complications in Resistant and FRNS
ƒ Protein depletion: muscle wasting, osteoporosis, short stature
ƒ &KURQLFUHQDOIDLOXUHĺLQQRQ- MCNS
ƒ Drugs complications: See later

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Investigations
1. For diagnosis
A. Urine analysis

ƒ Heavy Proteinura:
)LUVWPRUQLQJSURWHLQௗFUHDWLQLQHUDWLRRI!-3:ௗ (Timed urine
protein > 40 mg/m2/hr)
- Color: Yellowish, frothy
- Specific gravity: High
- Waxy (lipoid) & hyaline casts.
- Microscopic hematuria in about 10% of MCNS.
B. Biochemical

ƒ Low serum albumin < 2.5 gm/dl (normal: 3.5 - 4.5 gm/dl),
Low total proteins < 4.5 gm/dl. (normal :6.5 - 8 gm/dl)
ƒ Increased serum cholesterol > 220 mg/dl

- Complement C3 and C4 levels (Normal in MCNS)

2. Workup before starting therapy

ƒ CBC.
ƒ Urine microscopy and culture as there is an increased rate of UTI.
ƒ Infectious disease workup including
- PPD (Mantoux) skin test and chest X-ray in TB endemic areas.
- Varicella zoster serology to determine immune status.
- Hepatitis B and C serology.
ƒ Lupus antibody serology (ANA, extractable nuclear antibodies (ENA),
and ds-DNA) in older children, and those with atypical presenting
features
3. Renal biopsy
- Not indicated if MCNS is suggested.
- Indications.

Before treatment After treatment

- Age < 1 or >12 years. - Steroid resistance.
- Gross hematuria. - Frequent relapsing
- Renal failure
- Low C3

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Differential Diagnosis
1. Form other causes of generalized edema (See Clinical)
2. From causes of secondary nephrotic syndrome:
A diagnosis other than MCNS should be considered in
ƒ Children <1 yr of age
ƒ A positive family history of nephrotic syndrome
ƒ Presence of :
- Extrarenal findings (e.g., arthritis, rash, anemia)
- Hypertension or pulmonary edema
- Acute or chronic renal insufficiency
- Gross hematuria

Treatment of Nephrotic Syndrome

Supportive care
1. Fluid balance, hypovolemia, and blood pressure
ƒ Mild peripheral edema:
- Do not require fluid restriction
ƒ Significant edema
- Mild fluid restriction (70 % of maintenance requirements)
- A low salt diet control thirst and minimizes edema
ƒ Regular assessment of temperature, weight, BP, hydration state

2. Avoid infections
ƒ Avoid contact with infectious patients
ƒ Broad spectrum Antibiotics for any current infections pending bacterial
cultures
ƒ Nonimmune child, if exposed to Varicella, should receive varicella-
zoster immunoglobulin dose within 4days after significant exposure.
ƒ Edematous child should receive prophylactic penicillin V 12.5mg/kg bd
ƒ Vaccines :
9 Routine vaccines should be given during remission
9 Live vaccines should only be administered when the child is off all
immunosuppressive therapy (1 month following discontinuation of
steroids and 3-6 months following discontinuation of cyclosporine
and cyclophosphamide).
9 Other recommended vaccines: Pneumococcal(both types) , H.
influenza vaccines and annual influenza/H1N1 vaccine

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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3. Avoid thrombosis
ƒ Low dose aspirin
ƒ Treat hypovolemia either by:
- Plasma 20 ml /kg or
- 4.5 % albumin solution 10 – 20ml/kg
- Diuretics should be stopped or avoided in this setting
4. Salt free albumin
†‹…ƒ–‹‘• ƒ••‹˜‡‰‡‡”ƒŽ‹œ‡†‘‡†‡ƒȋƒƒ•ƒ”…ƒȌ™‹–Š”‡•’‹”ƒ–‘”›
†‹ˆˆ‹…—Ž–›
”‡…ƒ—–‹‘ ƒ›…ƒ—•‡ƒ…—–‡ ‹…”‡ƒ•‡‘ˆ‹–”ƒ˜ƒ•…—Žƒ”˜‘Ž—‡•‘‘„•‡”˜‡
…Ž‘•‡Ž›ˆ‘”†‡˜‡Ž‘’‹‰Š›’‡”–‡•‹‘‘”Š‡ƒ”–ˆƒ‹Ž—”‡
‘•ƒ‰‡ - ’–‘ͳ‰Ȁ‰ȋ—’–‘ͷȀ‰ʹͲΨƒŽ„—‹Ȍ
- Š‘—Ž†„‡‹ˆ—•‡†•Ž‘™Ž›‘˜‡”ͶŠ
- —”‘•‡‹†‡ ͳȂʹ‰Ȁ‰ „‡‹‰ ‰‹˜‡  †—”‹‰ –Š‡ •‡…‘†
ŠƒŽˆ‘ˆ–Š‡‹ˆ—•‹‘

Specific therapy
Induction of remission by Prednisone 60 mg/m2/d or 2 mg/kg/d (maximum
dose 80mg) for 4 weeks in a single daily dose
p
Response

ƒ Proteinuria (2+ or greater) persist:

ƒ Urine albustix negative or trace
9 After 8 weeks of steroids Or
for 3 consecutive days (timed
9 After 4 weeks of steroids
urine protein < 4mg/m2/hr)
followed by 3 methyl
ƒ Serum albumin • gm/dl.
prednisolone pulses.
ƒ In absence of infection or non-
adherence to medication
Remission of
nephrotic syndrome

Steroid Responsive Nephrotic Syndrome Steroid Resistant Nephrotic

Syndrome
1. Steroid Responsive Nephrotic Syndrome:
After the initial 4 weeks induction:
- Use alternate day prednisone 40 mg/m2 as single morning dose for 4 weeks
- Followed by gradual withdrawal over 4 months with monitoring for proteinuria

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Suggested plan:
ƒ 40 mg/m2 íPJNJ4KRXUVIRUZHHNVWKHQ
ƒ 20 mg/m2 íPJNJ4KRXUVIRUZHHNVWKHQ
ƒ 10–15 mg/m2 (0.5 mg/kg) Q48 hours for 4 weeks, then
ƒ 5–7.5 mg/m2 (0.25 mg/kg) Q48 hours for 2 months

(Manual Of Pediatric Nephrology)

Outcomes
ƒ No rHODSVHVĺ2EVHUYH
ƒ 5HODSVH!PRQWKVDIWHUVWHURLGZLWKGUDZDOĺ5HWUHDWPHQWDVDERYH
ƒ Relapse while on alternate day steroid therapy or < 28 days after steroid
withdrawal are termed steroid dependent nephrotic syndrome ; 60%

* Re induction followed by alternate day steriods

* Then to minimize relapse rate try the following:
1- Prolong alternate day steroid therapy for up to12-18 months
2- Steroid sparing therapies:
ƒ Levamizole 2.5 mg/kg Every 48H for 12 months
ƒ Cyclophosphamide 2 mg/kg/day for 12 week
ƒ Cyclosporine (CSA) 5íPJNJGD\
ƒ Mycophenolate Mofitel (MMF) 600–1200mg/m2/day 12 months
ƒ Tacrolimus(Prograf) íNJGD\RUDWOHDVWPRQWKV
ƒ Rituximab Every íPRQWKVPJP2 per
infusion
2. Steroid resistant nephrotic syndrome: may benefit from
ƒ Methylprednisolone pulses with cyclophosphamide (Mendoza protocol).
The recent guidelines advise against this protocol for SRNS.
ƒ Steroid pulse therapy :
- Methylprednisolone 10 mg/kg or 300 mg/m2 IV infusion every other
day for 3 doses followed by Prednisone 40 mg/m2 every other day.
- Kidney biopsy and genetic testing are essential to avoid excess
glucocorticoid toxicity
ƒ Steroid sparing medicines: Cyclosporine ,Tacrolimus, MMF
ƒ Anti proteinuric agents: ACE inhibitors and Angiotensin II Blockers(ARBs)
ƒ Supportive therapy
- Lipid-lowering drugs
- Thrombosis prophylaxis
- Vitamin D
ƒ Renal transplantation (Oxford Pediatric Nephrology)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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N.B Drugs Complications

Steroids
ƒ Cataract
ƒ Ulcers (peptic) ĺadd ranitidine or proton pump inhibitor
ƒ Striae
ƒ Hypertension
ƒ Infections due to immunosuppression
ƒ Necrosis of bone ĺ may require calcium and vit D
ƒ Growth retardation ĺmonitor height Q 3 months
ƒ Osteoporosis
ƒ Intracranial hypertension
ƒ Diabetes Mellitus
ƒ Myopathy (proximal)
ƒ Adipose tissue hypertrophy (moon face, Bufflo hump, trunkal obesity)
ƒ Pancreatitis
Cyclophosphamide
ƒ Alopecia
ƒ Bone marrow suppression
ƒ Hemorrhagic Cystitis (prevented by I.V. Mesna)
ƒ Decreased fertility
Cyclosporin A
ƒ Hypertrichosis
ƒ Hypertension
ƒ Hyperplasia of gums
ƒ Nephrotoxicity
MMF
ƒ Leucopenia /anemia
ƒ GIT ulcerations
Tacrolimus
ƒ Hyperglycemia
ƒ Nephrotoxicity
Rituximab
ƒ Immunosuppression
ƒ Unclear long term safety profile
Causes of death in nephritic syndrome?
1. Renal failure
2. Overwhelming infections
3. Hypovolemic shock

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Congenital and infantile nephrotic syndrome

¾ Congenital nephrotic syndrome (CNS):

Presentation of nephrotic syndrome during the first 3 months of life (often
present before or at birth)
¾ Infantile nephrotic syndrome :
Presentation of nephrotic syndrome between 3 and 12 months of age
Primary causes
ƒ Finnish-type CNS
ƒ Diffuse mesangial sclerosis
ƒ Focal segmental glomerulosclerosis
ƒ Membranous nephropathy
ƒ Minimal change disease
Secondary causes
ƒ Congenital Infections
ƒ Syndrome-associated:
- Denys Drash syndrome: Wilm’s tumor, genitourinary anomalies ,
nephrotic syndrome
- Nail-patella syndrome
- Lowe’s syndrome
- Frasier syndrome : Male pseudohermaphroditism and proteinuria
Other: e.g.
ƒ HUS
ƒ Nephroblastoma
ƒ Drug reaction

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Fennish type congenital nephrotic syndrome

- Autosomal recessive disorder
- Most patients have mutations in the NPHS1 gene which encodes for Nephrin
protein in the glomerular basement membrane.
Presentation
ƒ Low birth weight
ƒ Large edematous placenta ( > 25 % mass of newborn)
ƒ Generalized edema
ƒ Histology: early tubular dilatation (microcytic change), later on glomerular
sclerosis and fibrosis ending in end stage renal failure
Treatment
ƒ Bilateral nephrectomies and peritoneal dialysis + Transplantation once the child
has reached approximately 9 –10kg
ƒ Alternatively, perform early unilateral nephrectomy plus medical therapy +
Second nephrectomy and subsequent transplantation at 3 – 4 years of age
Medical supportive therapy (as before)
ƒ Regular albumin infusions via a central venous catheter until bilateral
nephrectomy is performed
ƒ ACEI/ARBs.
ƒ NSAID e.g. Indomethacin up to 4mg/kg divided into three doses.
ƒ Thyroxine is necessary from birth.
ƒ Childhood vaccines should be completed after nephrectomy prior to
transplantation
ƒ Close attention to nutrition and growth — high calorie and high protein
diet (4mg/kg/day).
ƒ Anticoagulation with warfarin/aspirin may have a role.
(Oxford pediatric nephrology handbook)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Acute Renal Failure (ARF)
Definition: A sudden, potentially reversible inability of the kidney to maintain
normal body chemistry and fluid balance. The term ARF has been replaced by
the term Acute Kidney Injury (AKI).
Etiology
A. Pre renal (60%)
Due to: Marked reduction of renal blood flow
1. Excess losses
ƒ Gastro-enteritis
ƒ Polyuria &
ƒ Burns
ƒ Hemorrhage

2. Hypo albuminenic states

ƒ Nephrotic syndrome
ƒ Liver failure (hepato-renal synd.)

3. Impaired cardiac output

ƒ Heart failure
ƒ Shock

B. Intrinsic renal (30%)

Due to: Renal parenchymal damage
1. Glomerular: Acute glomerulonephritis

2. Tubular necrosis
- Untreated pre-renal failure
3. Interstitial
- Tubulointerstitial
- Nephrotoxins e.g.
nephritis
aminoglycosides
- Pyelonephritis
- Myoglobinuria
- Hemoglobinuria
- Crystal nephropathy

4. Vascular
- Renal vein thrombosis.
- Hemolytic uremic syndrome

5. Acute on top of chronic: Decompensated CKD due to inter current illness

C. Post renal (10%): Due to: urine outflow obstruction (Obstructive uropathy)
By stones, tumors, trauma

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Clinical picture
1. Manifestations of the cause; basically in pre renal failure
2. Oliguric phase:
Mechanism Clinical sign
Water retention  Oliguria or anuria
 Edema
 Hypertension
Waste retention  Acidotic breathing (rapid & deep)
 +\SHUNDOHPLDĺG\VUK\WKPLDV
 8UHDĺXUHPLFHQFHSKDORSDWK\ FRQIXVLRQ
ĺFRQYXOVLRQVĺFRPD
Systemic upset  Heart failure up to acute pulmonary edema
may occur due to hypervolemia
 GIT bleeding may occur due to gastric stress
ulcers and thrombocytopathy
 Convulsions may occur due to excessive salt
loss(hyponatremia) or uremic encephalopathy
3. Polyuric phase:
It PD\ RFFXU LQGLFDWLQJ HDUO\ UHFRYHU\ ĺ QHZ WXEXODU FHOOV FDQ¶W UHWDLQ
IOXLG HOHFWURO\WHVĺSRO\XULD HOHFWURO\WHORVV
Diagnosis
1. Is there an Acute Kidney Injury
ƒ Urine volume  Oliguria:
ƒ Urine output < 0.5mL/kg/h
(< 300 ml/m2/day) or
ƒ < 1mL/kg/h in an infant
 Anuria : urine output < 30 ml/m2/day
ƒ Renal function tests  Elevated serum creatinine
 Elevated urea & blood urea nitrogen(BUN)
ƒ Acid / base disturbance  0HWDEROLFDFLGRVLVĻS+Ļ3D&22Ļ+&23).
ƒ Electrolytes  Hyperkalemia.
 Hyponatremia.
 Hypocalcemia, hyperphosphatemia

Creatinine is an insensitive and delayed measure of decreased kidney

function. Other biomarkers under investigation include changes in plasma
neutrophil gelatinase-associated lipocalin (NGAL) and cystatin C levels and
urinary changes in NGAL

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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2. For effect/cause
a) ECG: for evidence of hyperklemia
 Tall peaked T wave; the earliest ECG sign of hyperkalemia
 Widening of QRS complex
 Arrhythmias
b) Ultrasonography
 Exclude obstructive uropathy
 Differentiate between acute (enlarged and echobright kidneys) and
acute on top of chronic failure (shrunken kidneys)
c) Radiologic studies:for
 Heart failure: cardiomegaly with prominent pulmonary markings
 Renal stones
3. Diagnosis of the type
i. Post renal
1- Palpable bladder & kidneys.
2- Bladder catheterization
3- Abdominal ultrasound to exclude obstructive uropathy.
 ii. Pre renal iii. Intrinsic renal
Clinical Hypovolemia : Euvolemia or
 Tachycardia Hypervolemia :
 Core-peripheral  Hypertension
temperature gap > 2 °C  Raised jugular
 Prolonged capillary refill venous pressure
time  Tachycardia,
 Dehydration
gallop rhythm
 Hypotension
 Palpable liver
Laboratory
ƒ Urine osmolality High Low
ƒ Urine specific gravity > 1020 < 1010
ƒ Urine sodium < 20 meq/L > 30 meq/L
ƒ Fractional excretion <1 >1
of Na(FNa)
ƒ BUN / creatinine > 20:1 10-20:1 (+ oliguria)
ratio(mg/dl)
US Normal Kidneys are enlarged
and echobright


.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Pediatric RIFLE (pRIFLE) criteria

Used for the detection and classification of AKI and for correlation with clinical outcomes
Serum creatinine rise GFR decline Urine out put
Risk 1.5-fold 25 % <0.5 ml/kg/h × 8 h
Injury 2-fold 50 % <0.5 ml/kg/h × 16 h
Failure 3-fold 75% or <0.3 ml/kg/h × 24 h or
< 35 ml/min/1.73 m2 anuric for 12 h
Loss Persistent failure > 4 weeks
End ESRD (persistent failure >3 months)
stage

Treatment of ARF
,+RVSLWDOL]DWLRQDQG0RQLWRULQJ
ƒ Weight ĺ Twice daily
ƒ Fluid input-output recording ĺ Hourly
ƒ Vitals; including BP ĺ Hourly
ƒ Blood sugar ĺ 6-hourly
ƒ Neurological observations ĺ Hourly
ƒ Renal parameters (BUN/Creatinine) ĺ May be appropriate to perform
Blood gases, Electrolytes up to every 6hours
,,&RUUHFW3RVWUHQDOFDXVHV
ĺ5HPRYHREVWUXFWLRQE\FDWKHWHUL]DWLRQ“VXUJLFDO
,,,&RUUHFWSUHUHQDOFDXVHV
ƒ )OXLGUHVXVFLWDWLRQĺ5HVWRUHV renal blood flow

- )OXLGORVVĺVDOLQHinfusion 10 ml/kg over 30 minutes

- %ORRGORVVĺIUHVKEORRGWUDQVfusion
- 3ODVPDORVVĺSODVPDWUDQVIXVLRQ
- Protein loss (Nephrotic) ĺalbumin infusion

ƒ Repeat if necessary
ƒ :LWKJRRGFRUUHFWLRQĺthe patient should void within 1-2 hours


.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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,97UHDWPHQWRILQWULQVLFUHQDOIDLOXUH
1. Monitoring
2. Maintain fluid balance:
Euvolemic  Fluid challenge 10–20mL/kg normal saline over
1h with
 Furosemide 2–4mg/kg IV
Hypervolemic  Furosemide 2–4mg/kg IV
ƒ Maximum dose of diuretic = 12mg/kg/day
ƒ Value : Reduce volume overload & enhance potassium excretion
ƒ If there is no response to a diuretic challenge, diuretics should be
discontinued and start fluid restriction / Dialysis
Fluids intake
 Daily intake = insensible loss (400 ml/m2 or 30mL/kg/day) + plus
urine output and other ongoing losses
 Type: feeds if tolerated or IV D5 / Half normal saline
 Replace 100 % of urine output if euvolemic.
 Restrict to 50–75 % of urine output if overloaded
Nutrition
 Consult renal dietician
 Maximize caloric intake
 Restrict sodium, potassium and phosphorus and proteins
3. Management of electrolyte and acid base abnormalities
a. Hyperkalemia SRWDVVLXPOHYHO•PHT/
ƒ Restrict potassium intake
ƒ Enhance GIT excretion by kayexalate (polyestrene resin) oral or enema.
ƒ With potassium levels above 7 meq/l or ECG changes appear
R Stabilize cardiac membrane by 1 ml/kg calcium gluconate 10%
slow I.V
R Shift potassium intracellular by:
 Salbutamol nebulizer
 Sodium bicarbonate 1-2 mEq/kg over 10 minutes i.v
 Regular insulin(0.1 u/kg) + glucose 50% solution(1 ml /kg)
over 1 hour
ƒ Persistent hyperkalemia should be managed by dialysis
b. Hyponatremia (sodium level < 130 meq/L):
ƒ Dilutional hyponatremia usually respond to fluid restriction
ƒ Hyponatremia < 120 meq/l with seizures is treated with Na CL 3%
(Target serum sodium 125 mEq/l)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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c. Hypocalcemia and hyperphosphatemia

ƒ Tetany is rare as acidosis increases ionized calcium.
ƒ Restrict phosphate intake & give phosphate binders e.g. sevelamer
(Renagel), calcium carbonate or calcium acetate (PhosLo).
ƒ Calcium gluconate 10 % slow iv only for cases with tetany
d. Metabolic acidosis
ƒ Slow partial correction with IV bicarbonate 1–2mmol/kg
ƒ Monitor serum calcium
4. Treatment of complications
ƒ $QHPLDĺ)UHVKSDFNHG5%&VWUDQVIXVLRQRYHU- 6 hours
ƒ +\SHUWHQVLRQĺ'LXUHWLFV,VUDGLSLQHDPHORGLSLQHHWF
5. Dialysis
Indications
Clinical
1. Volume overload with evidence of hypertension and/or pulmonary
edema refractory to diuretic therapy
2. Neurologic symptoms (altered mental status, seizures)
3. Inability to provide adequate nutritional intake because of the need for
severe fluid restriction(dialysis provides a space for nutrition)
Laboratory
1. Persistent hyperkalemia
2. Severe metabolic acidosis unresponsive to medical management
3. Blood urea nitrogen >100-150 mg/dL (or lower if rapidly rising)
4. Calcium: phosphorus imbalance, with hypocalcemic tetany
Modes of dialysis
1) Peritoneal dialysis : most commonly employed in neonates and infants
with ARF
2) Continual Renal Replacement Therapy (CRRT): useful in patients with
unstable hemodynamic status, concomitant sepsis, or multiorgan
failure in the intensive care setting
3) Intermittent hemodialysis: useful in patients with relatively stable
hemodynamic status
Prognosis
™ The mortality rate depends entirely on the nature of the underlying disease
™ Recovery of renal function is likely after ARF resulting from prerenal
causes, HUS, Acute tubular necrosis, or acute interstitial nephritis.
™ Poor outcome with AKI following rapidly progressive glomerulonephritis,
bilateral renal vein thrombosis, or bilateral cortical necrosis

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Chronic kidney disease (CKD)

Chronic Renal Failure (CRF)
Definition
ƒ Irrecoverable, bilateral abnormalities of the renal parenchyma ĺ
permanent reduction of glomerular filtration rate (GFR)
ƒ CKD has reSODFHG³FKURQLFUHQDOIDLOXUH´DQG³FKURQLFUHQDO
LQVXIILFLHQF\´DVWKHJOREDOO\DFFHSWHGWHUPLQRORJ\IRUSHUVLVWHQWUHQDO
dysfunction
Stages of CKD
CKD stage Description GFR (ml/min/1.73 m2 )
1 Kidney damage with •
normal or increased GFR
2 Kidney damage with 60–89
mild decrease in GFR
3 Moderate decrease in 30–59
GFR
4 Severe decrease in GFR 15–29
5 Kidney failure <15 (or dialysis)
(Manual of pediatric nephrology)
Causes
In < 5 years of age
ƒ Congenital malformations:
 Hypoplastic/dysplastic kidneys
 Reflux nephropathy(VUR+UTI)
 Obstructive uropathy
ƒ Metabolic/genetic disorders:
 Oxalosis
 Polycystic kidney disease
 Congenital nephrotic syndrome
 :LOPV¶WXPRU
In > 5 years of age
ƒ Glomerular disease:
 Focal segmental glomerulosclerosis
 Hemolytic uremic syndrome
 Chronic glomerulonephritis
 $OSRUW¶VV\QGURPH
ƒ Tubulointerstitial disease:
 Chronic tubulointerstitial nephritis
 Cystinosis
 Nephrotoxic drugs

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Clinical picture
Non specific so, need high index of suspicion
Clinical feature Mechanism
R Growth retardation (Short stature) - Resistance to growth hormone
- Anemia
- Anorexia ( metabolic acidosis)
- Renal osteodystrophy
R Unexplained anemia - p Erythropiotine
- Ļ intake of iron, B12, folic acid.
- Bone marrow depression by uremic toxins
- Defective iron utilization.
R Polyuria / Polydipsia/ Nocturia - Renal tubular concentration defect
R Hypertension - Increased renin & fluid retention
R Renal osteodystrophy (ROD) - Hyperphosphatemia
- Decreased 1,25 (OH)2D3
- Secondary hyperparathyriodism
R Bleeding tendency - Platelet dysfunction
R Infection - Defective granulocyte function
R Neurologic (fatigue , - Uremic toxins
drowsiness,polyneuropathy)
R Pericarditis, cardiomyopathy - Uremic toxins - Hypertension
R Hyperlipidemia - ĻOLSRSURWHLQOLSDVHDFWLYLW\
R Hyperkalemia and hyponatremia
Diagnosis
1. Assessment of renal function:
 Serial measurements of creatinine: An abnormal serum creatinine value
persisting for more than 3 months confirms CKD.
 Estimated GFR by 6FKZDUW]¶VHTXDWLRQ & DTPA scan
 Proteinuria: Persistent proteinuria is a marker of ongoing renal disease.
2. Renal ultrasound & DMSA scan show shrunken kidneys(Kidneys may appear
large e.g. Polycystic kidney disease , Obstructive uropathy)
3. For complications:
 CBC for anemia
 Lipid profile
 Echocardiography for pericardial effusion & cardiomyopathy.
 In ROD ĺ High phosphate - low calcium - high intact PTH
ĺBone X-UD\ĺVXESHULRVWHDOHURVLRQV“ERQHF\VWV
4. For the cause
5. Follow up investigations (see later)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Treatment
Stages of treatment:
ƒ Stage 1: diagnosis and treatment of primary disease
ƒ Stage 2- 3: retard progression, treat complications/comorbidities
ƒ Stage 4: prepare for renal replacement therapy
ƒ Stage 5: renal replacement

Outpatient checks in the child with CKD

ƒ Height, weight and head circumference
ƒ Pubertal stage
ƒ BP

Investigations at each clinic visit

1. Full blood count (FBC; and ferritin if needing an erythropoiesis
stimulating agent).
2. Urea & electrolytes (U&Es), bicarbonate, and creatinine
3. Calcium, phosphate, albumin, alkaline phosphatase, intact PTH
4. Urine protein or albumin to creatinine ratio
5. Fasting HDL and LDL, total cholesterol and triglycerides 6 monthly.

Management
A. Slowing the progression of chronic kidney disease
1. Control proteinuria
 Rate of decline of kidney function is closely related to the quantity of
proteinuria
 Use:
9 Angiotensin Converting Enzyme Inhibitors; enalapril or captopril
and/or
9 Angiotensin Receptor Blockers(Irbesartan)
2. Control hypertension
 BP should be maintained within the normal range for age and height
 There is some evidence that BP <50th centile may be beneficial
3. Control Dyslipidaemia by
 Dietary intervention
 Statins
4. Treatment of anemia

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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B. Conservative treatment
Nutrition
ƒ Consult expert dietician
ƒ Treat vomiting (ranitidine)
ƒ High caloric diet
ƒ Dietary supplements, either orally or enterally, via nasogastric tube or
gastrostomy, if anorexic
ƒ Protein and potassium restriction may be needed in stage 4-5 CKD!
ƒ Feeding infants with CKD:
 Breast milk
 Special formula e.g. Low salt formula (SMA), high energy formula
(Maxijul), low potassium , low phosphate formula (Renastart),….
Fluid and electrolyte balance
ƒ ,ISRO\XULDĺIUHHDFFHVVWRZDWHU
ƒ ,IVDOWDQGELFDUERQDWHORVHUĺVDOWDQGELFDUERQDWHsupplementation
Growth
ƒ Correct acidosis, hyperparathyroidism and anemia
ƒ Optimize nutrition
ƒ Recombinant human growth hormone (rhGH)
Anemia
ƒ Target Hb should be in the range of 11.0–12.0 g/dl
ƒ Iron supplement
ƒ Erythropoietin 50-100 U/kg/week or Darbepoetin D (longer half-life)
ƒ RBCs Transfusion for symptomatic severe anemia
Mineral and bone disorder (ROD)
ƒ The target range of serum PTH is closely related to stage of CKD
ƒ Treatment
1. Control hyperphosphatemia
x Dietary phosphorus restriction
x Phosphate binders;administered with meals
 Calcium based e.g. Calcium carbonate, calcium acetate
 Non calcium based: Sevelamer (Renagel)is now more popular
2. Maintain serum calcium
3. Vitamin D therapy: One Alpha = 1 D (OH) D3 and Calcitriol
4. Ca sensing receptor blockers, Cinacalcet, blocks calcium sensing
receptors (CaSR) in parathyroids ĺReduce PTH.
5. Partial parathyroidectomy for treatment - resistant tertiary
hyperparathyroidism with persistent hypercalcemia

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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3 Illustrated Baby Nelson

Hypertension (HTN)
ƒ Target blood pressure should be lower than the 90th percentile for
normal values adjusted for age, gender, and height
ƒ Maintaining BP below the 50th percentile may be effective in
delaying progression of CKD
ƒ Use
 Diuretics
 ACEI/ARBs
 Calcium channel blockers
 Beta blockers
Immunizations
ƒ All children must complete all routine childhood vaccines.
ƒ BCG, Varicella, pneumococcal polysaccharide (PPV) and hepatitis B
vaccines must be added in children approaching RRT
ƒ Annual influenza vaccine
ƒ Transplantation can be delayed till vaccination schedule is completed
C. Renal replacement therapy (RRT)
Dialysis
Indications:
Laboratory criteria:  GFR <15 ml/min/m2
 Refractory hyperkalemia, hyperphosphatemia,
and metabolic acidosis
Clinical criteria Children with symptoms of
 Nausea, vomiting
 Malnutrition, growth retardation
 Fluid overload, hypertension
 Uremia
Despite optimal medical management
Types
ƒ Hemodialysis
ƒ Chronic peritoneal dialysis
Renal transplantation
 The renal replacement therapy of choice in children
 Offering a near normal life to a child with end-stage renal disease

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Urinary Tract Infections

Urinary tract infections can present as
x Upper urinary tract infections o acute & chronic pyelonephritis
x Lower urinary tract infections o acute & chronic cystitis & urethritis
x Asymptomatic bacteruria
x Septicemia
Causes
Risk factors Common organisms
 Females (short urethra) - G -ve o - Escherichia coli (80%)
 Uncircumcised boys - Proteus (more in boys)
 Vesico ureteric reflux(VUR) - Pseudomonas
 Obstructive uropathy - G +ve o staph, strept. fecalis
 Constipation
 Instrumentation
Causes of recurrent UTI
1. Obstructive uropathy:
- VUR either congenital or secondary to UTI
- Congenital anomalies e.g. phimosis
- Renal calculi
- Neurogenic bladder
2. Catheters or foreign bodies
3. Constipation; elimination disorders
4. Mal treatment or inadequate treatment of an acute attack
Clinical picture: (presentation differs according to age)
Asymptomatic bacteruria: - positive urine culture without manifestations
Newborn  Sepsis (Jaundice,p feeding,………)
Infant  Fever ( UTI is the most common bacterial
cause of fever without focus in infants)
 Screaming during micturition
 Failure to thrive(vomitingo weight loss)
Child ƒ Lower UTI - Urgency, dysuria, frequency
- Suprapubic pain
- 2ry nocturnal enuresis
- May be hematuria
ƒ Upper UTI - $FXWHĺ)HYHUULJRUV ORLQSDLQ
- &KURQLFĺ3URORnged fever
ĺ0D\EHK\SHUWHQVLRQ

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Investigations
1. Diagnosis of urinary tract infections: by Urinalysis and culture
Urine sample obtained by:
ƒ For toilet-trained children
 Mid-stream voided urine
ƒ For non-toilet-trained children
 Clean catch into a waiting sterile pot when the nappy is removed
 Urine bag (high a rate of contaminationĺunreliable culture results)

If UTI is suggested; order a urine culture using a sample by either

 In and out catheter sample; reliable and more practical than SPA
 Suparpubic aspiration; SPA (Reserved for sick patients)
Findings
ƒ Pyuria:
•5WBCs/hpf 2U• 10 WBCs/ml
[Absence of pyuria is rare if UTI is present]
ƒ Leukocyte esterase and Nitrite tests are usually positive with UTI
ƒ Gram stained films: For bacteruria
ƒ Urine culture: necessary for confirmation and appropriate therapy
Minimum colony counts indicative of a urinary tract infection:
Specimen (CFU/mL)
 Clean catch (midstream) •5
 Catheter •î4
 Suprapubic aspiration Any growth
2. Indicators of upper UTI (Acute pyelonephritis):
 Leukocytosis, neutrophilia
 Elevated serum erythrocyte sedimentation rate and C-reactive protein
 Blood cultures, particularly in infants and in obstructive uropathy
 DMSA scan
3. Imaging studies:

Imaging tools Yield

Ultrasound of kidneys  Assess kidney size , anatomy and position
and bladder  Evaluate bladder wall thickness and
emptying
 Detect ureteral dilation
 Detect hydronephrosis

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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MCUG (Micturating Cyst  The gold standard investigation for the
Urethro Gram) diagnosis of urethral abnormalities and
VUR
 Evaluate bladder anatomy and emptying
Plain abdomen  Fecal masses
 Spinal dysraphism
DMSA scan  The gold standard investigation for the
diagnosis of renal parenchymal damage
ƒ Acute : diagnose acute pyelonephritis
ƒ Chronic : detect renal scarring
NICE Guideline for imaging in UTI
Ultrasound
ƒ Indicated during the acute infection for:
 Infants below 6 months
 Atypical UTI
 Recurrent UTI
MCUG
ƒ Done at 2-4 weeks post UTI allowing bladder inflammation to
resolve
ƒ Indications:
1. After a second UTI is diagnosed
2. After a first UTI with:
 Abnormal ultrasound findings e.g. hydrnephrosis, scarring,
obstructive uropathy or VUR
 Poor urine flow
 Non E.coli UTI
 Family history of vesico ureteral reflux VUR
DMSA scan
ƒ Done at 4-6 months in order to avoid a false positive result due to
renal parenchymal inflammation that may resolve
ƒ Indications:
 Child > 3 years of age with clinical pyelonephritis
 Atypical UTI
 Recurrent UTI
In children with infection of the lower urinary tract, imaging is
usually unnecessary.
Instead, assessment and treatment of bladder and bowel
dysfunction is important.
If there are numerous lower urinary tract infections, then a renal
sonogram is appropriate

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Treatment
NICE guidelines regarding antibiotic treatment
Age Antibiotic Plan
Age < 3 months  IV antibiotics for 2–4 days then
 Switch to oral antibiotics if clinically improved
Age > 3 months with upper  Oral antibiotic for 7–10 days
tract UTI  IV antibiotics for 2–4 days if vomiting, then
oral antibiotics for a total of 10 days
Age > 3 months with lower  Oral antibiotics for 3 days
urinary tract symptoms
If a child is on prophylaxis  Change the antibiotic
(Oxford pediatric nephrology)
Empirical antibiotics
Oral antibiotics e.g. Parenteral antibiotics e.g.
 Cotrimoxazole  Ceftriaxone
 Amoxicillin  Cefotaxime
 Cefixime  Ampicillin plus an
 Ciprofloxacin for resistant cases aminoglycoside e.g. gentamicin
Follow on
x Change antibiotics according to culture and sensitivity
x Urine culture after 1 week to ensure recovery
x Continue antibiotics till urine culture turns sterile, pyuria disappears,
afebrile without clinical evidence of UTI
x Urine culture after 3 months o detect recurrence
Supportive care
 Adequate hydration
 Diet, rest and symptomatic treatment e.g. antipyretics
 Admit to hospital sick children (dehydrated, vomiting, ”PRRIDJH)
Prevention: For recurrent urinary tract infections
ƒ Treat risk factor e.g. stones, constipation, voiding dysfunction
ƒ Adequate hydration
ƒ Frequent bladder emptying
ƒ Antibiotic prophylaxis
 e.g. Low dose cotrimoxazole or nitrofurantion
 For high risk conditions e.g. neurogenic bladder, and VUR
 Usually for patients below 3 years
ƒ Probiotic and cranberry juice may have added benefit

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Enuresis
Definitions
x Most children achieve night-time dryness by 5 years of age, when
x bladder volume exceeds nocturnal urine production
x Nocturnal enuresis is involuntary loss of urine at night, in the absence of
physical disease, at an age when the child could reasonably be expected to
be dry (developmental age of 5 years by consensus)
x Nocturnal enuresis is common, affecting 15–20 % of 5-year-olds, 5 % of
x 10-year-olds and 1–2 % of 15-year-olds
x Enuresis differs from urinary incontinence that in enuresis the child can
control bladder while incontinence means loss of bladder control
Clinical types:
ƒ Primary: the child has never been dry
ƒ Secondary: the child has previously been dry at night for 6 months or more
after the age of 5 years;
ƒ Monosymptomatic (uncomplicated): not associated with other urinary tracts
symptoms
ƒ Polysymptomatic (complicated) :associated with symptoms suggestive of
lower urinary tract dysfunction
Etiology:
Poorly understood
ƒ Developmental disorder: Delay in maturation of bladder control
ƒ Strong genetic component: a family history is found in most children
ƒ Psychological disturbances e.g. emotional deprivation
ƒ Organic causes e.g. mental retardation, urinary tract infections, polyuria as
in diabetes mellitus or insipidus.
Management:
1. Proper history taking.
2. Investigations to exclude organic causes.
3. Psychotherapy if emotional factors are present.
General measures
 Adequate daytime fluid intake to develop bladder capacity and reduce
evening fluid intake
 Avoid caffeine-based drinks
 Exclude/treat constipation if present
 Consider correction of airway obstruction in heavy snorers
 Pass urine regularly during the daytime and before sleep
 Waking for toileting is used only as short-term management

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Reward systems
 Star charts for dry nights
 Rewards should be given for agreed behavior e.g toileting before sleep,….
 Where these measures alone are unsuccessful, consider the use of an
alarm system or drug treatment
Alarm systems
ƒ With alarm system around 50 % of children
achieving long-term dryness
ƒ Alarm systems are superior to behavioral
techniques and drug therapy
ƒ Use until either 14 consecutive dry nights or 3
months
ƒ Alarms and desmopressin equally effective but
alarm has more prolonged effect
ƒ Drawbacks: requires time, motivation, and hard work
Desmopressin
ƒ Has more immediate effect than alarm
ƒ May be used “on important nights only”
ƒ Where successful, treatment should be withdrawn
every 3 months to assess response
ƒ Dosage: oral tablets 0.2–0.4 mg or 120–240
micrograms sublingually at bed time
ƒ Keep evening fluid intake below 200 ml and no
nighttime drinking
ƒ Stop treatment if no effect within 2 weeks
ƒ Drawbacks: high relapse rate upon stopping
ƒ Can be combined with alarm

Anticholinergics e.g. Oxybutynin

ƒ May be considered for cases unresponsive to the above therapy
ƒ With or without desmopressin/alarm
ƒ Never combined with tricyclic antidepressants
ƒ Exclude residual urine and/or constipation
ƒ Useful for cases with day time wetting
Tricyclic antidepressants (Imipramine)
ƒ Restricted to those who have not responded to alarm and/or desmopressin
ƒ Have significant adverse-effects ; cardio toxic ,anticholinergic effects
ƒ If used, imipramine should be withdrawn gradually

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
 ‫‬

‫\‪*DVWURHQWHURORJ‬‬
‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‪.‬‬
‫ﺩﻋﻮﺍﺗﻜﻢ‬ ‫ﺭﻓﻌﻪ ﺩ‪ .‬ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‪.‬‬

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Causes of vomiting in infants and children

1. Acute infections 2. Metabolic 3. Acute intestinal obstruction
- CNS infections - Drug poisoning * Functional: Paralytic ileus
- Pulmonary infections - Rye’s syndrome * Organic:
- Gastroenteritis - Diabetic keto acidosis - Intussusception
- Acute pyelonephritis - Renal failure - Volvulous
- Sepsis - Drugs: e.g. aspirin
4. Chronic vomiting
- Over feeding
- Gastro-Esophageal reflux
- Congenital pyloric stenosis
- Inborn errors of metabolism/ adrenal insufficiency
- Psychogenic
Causes of Abdominal pain
i- Acute abdominal pain
Acute infections Acute medical conditions Acute intestinal
- Strept. Pharyngitis - Pneumonia(lower lobe) obstruction
(mesenteric adenitis) - Rheumatic fever (peritonitis)
- Acute hepatitis. - Henoch Schonlein purpura.
- Acute pancreatitis - Familial mediterranean fever.
- Acute pyelonephritis - Diabetic keto acidosis
- Acute appendicitis.
- Acute peritonitis.
ii- Chronic (recurrent) abdominal pain
Functional Organic
- Irritable bowel syndrome - Intestinal parasites e.g. Giardiasis
(in 90%; psychic related) - Chronic diarrhea (and Malabo sorption)
- School phobia - Chronic constipation
- Inflammatory bowel disease
- H. Pylori infection
- Chronic hepatitis
- Stones (urinary, biliary)
Q. Causes of constipation?
- Anal fissure
- Spina bifida
- Cretinism
- Intestinal obstruction
- Habitual constipation
- Medications (narcotics)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Stomatitis
Definition: Inflammation of the oral mucosa
Clinical types
1. Catarrhal stomatitis:
Mild generalized inflammation of the oral mucosa
Causes
 It accompanies acute infections as measles
 Local factors (chemical, traumatic or thermal).
Treatment: may use gentian violet 1 % or local oral anesthetics
2. Herpetic gingivo-stomatitis:
Caused by herpes simplex virus
Clinical picture
a. Acute onset of fever, anorexia; few days later
b. Herpetic vesicles appear o minute ulcers
c. Associations:
 Pain, excessive salivation
 Bad mouth odor
 May be bleeding, swollen gums.
Treatment (Nelson 2016)
 Care of feeding: cold fluids ± nasogastric tube feeding in severe cases.
 Mouth paint with gentian violet 2% or silver nitrate 2%.
 Antiviral agents as Acyclovir (Zovirax).
3. Thrush stomatitis (Moniliais):
Caused by candida albicans in:
 New born: infected from mothers with genital moniliasis or infected teats
 Malnourished infants due decreased cell mediated immunity
 As a side effect of excess use of antibiotics.
Clinical picture
 Numerous small white flakes
 On the dorsum of tongue, inner side of
cheeks & palate.
 In extensive cases a thick white
membrane is formed
Prevention 
The nipple and areola of the nursing mother should be cleaned before feeding
and painted with nystatin ointment in between meals.
Treatment 

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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4. Gangrenous stomatitis:
ƒ Rare; Seen in severe debilitated children with diseases as measles
ƒ A deep large ulcer on the inn surface of the cheeks that spread slowly by
necrosis of adjacent tissues
ƒ It may lead to perforation of the cheek
Treatment: antibiotics plus surgical excision of necrotic areas.

Differential diagnosis of oral ulcers

Common Criteria
ƒ Aphthous (canker sore)  Painful
 Circumscribed lesions
 Last 10-14 days
 Recurrences
ƒ Treatment: benzocaine and topical lidocaine,
are effective, as are topical steroids
ƒ Traumatic  Accidents
 Chronic cheek biter
ƒ Hand, foot, mouth disease  Painful
 Lesions on tongue, anterior oral cavity, hands,
and feet
ƒ Herpangina  Painful
 Lesions confined to soft palate and
oropharynx
ƒ Herpetic gingivostomatitis  Vesicles on mucocutaneous borders
 Painful
 Febrile
Uncommon
R Neutrophil defects  Agranulocytosis, leukemia, cyclic neutropenia
 Painful
R Systemic lupus  Recurrent
erythematosus  May be painless
R Behçet syndrome  Resembles aphthous lesions
 Associated with genital ulcers, uveitis
R Oral Crohn’s disease  Aphthous-like
 Painful
R Stevens-Johnson syndrome  May be isolated or appear initially in the oral
cavity

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Achalasia
Definition
ƒ Esophageal motility disorder characterized by:
 Failure of relaxation of lower esophageal sphincter (LES)
 Due to lack of ganglionic cells in the lower esophageal sphincter
 With subsequent increased lower esophageal sphincter pressure
ƒ Incidence: most cases occur after age of 15 years
Clinical picture
 Dysphagia mainly to liquids rather than to solids that may open LES by
weight
 Regurgitation of food
 Cough due to overflow of fluids into trachea (frequent aspiration)
 Recurrent chest infections
 Failure to gain weight in progressive cases
Diagnosis
 Upright chest x ray show air fluid level in dilated esophagus
 Barium swallow fluoroscopy shows massive dilatation of the esophagus
with tapered lower end

 Esophageal manometry is diagnostic; it reveals:

9 Aperistalsis in the distal esophageal body and
9 Incomplete or absent LES relaxation, often accompanied by
9 High pressure LES
Treatment
ƒ Pneumatic dilation is the initial treatment of choice, and does not preclude
a future myotomy
ƒ Temporary relief of dysphagia can be offered by calcium channel blockers
(nifedipine) and phosphodiesterase inhibitors or endoscopic intra
sphincteric injection of botulism toxin
ƒ Heller myotomy: surgical division of muscles at gastroesophgeal junction.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Gastro- Esophageal Reflux Disease (GERD)

Definition: Abnormal retrograde of gastric contents into oesphagus due to

persistent relaxation of lower oesphageal sphincter (LES)
Incidence: - Mainly in neonates & young infants
- 60% improve with age (resolve by 6 mo-2years).
Clinical picture
A. Uncomplicated cases
1. Vomiting
 At the end of the feed
 From the 1st week of life
 Increase with lying flat
 May be bile stained.
2. Sandifer syndrome: abnormal head posture and opisthotonus to protect
airways.
3. Substernal pain and dysphagia in older child
B. Complicated cases
 Oesphagitis o GIT bleeding
 Recurrent aspirations o recurrent aspiration pneumonia
 Chronic cough & chest wheezes
 Growth retardation
 May be sudden infant death syndrome(SIDS) due to laryngospasm and
apnea
Investigations
1. Diagnostic:
ƒ Radiologic
 Barium swallow under screen o retrograde of the dye
 Doesn’t assesses mucosal inflammation nor the severity of GERD
ƒ Extended esophageal pH monitoring: PH< 4 in 5-8% of the monitoring
time
ƒ Endoscopy
 Detects low LES pressure by manometry
 Detect acidic esophageal pH (< 4)
 Visualize erosive esophagitis and
complications such as strictures or
Barrett’s esophagus
2. For complications:
Check stool for occult blood Normal esophagus versus Erosive esophagitis

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Treatment
Medical
ƒ Feeding : Thickening feedings with rice or oat cereal (1tablespoon/ounce)
ƒ Position
 Head up for 30 min after feeding. However, the “infant seat” may
worsen reflux by increasing intraabdominal pressure
 Supine position reduces SIDS but worsen GERD
 When the infant is awake and observed, prone position and upright
carried position can be used to minimize reflux.
ƒ Pharmacotherapy
R Ameliorate acidity by:
 Anti-acids
 Histamin-2 (H2) receptor blockers e.g. Ranitidine
 Proton pump inhibitors(PPIs) e.g. omeprazole, esomeprazole
R Prokinetics: controversial and not recommended
 Domperidone (Risk of cardiac dysrhythmias)
 Metoclopramide (Risk of tardive dyskinesia)
 Baclofen ; DFHQWUDOO\DFWLQJȖ-aminobutyric acid agonist
 Under research: Metabotropic glutamate receptor 5 antagonists
Avoid methylexanthines o it lowers LES tone
Surgical
Operation
 Fundo plication
Indications
 Failed medical treatment
 Complications. e.g. Growth retardation

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Congenital Hypertrophic Pyloric Stenosis

Definition
Progressive hypertrophy of circular muscles fibers of the pylorus with
subsequent pyloric narrowing due to ganglionic cells immaturity
Pathogenesis
Progressive vomiting results in:
- Loss of HCLo metabolic alkalosis
- Loss of potassium and chloride o hypokalemia and hypochloremia
- Loss of water and nutrientso dehydration and failure to thrive
Clinical picture
Incidence
 Males (especially first born) affected than females.
 Positive family history may exist.
Symptoms
1. Vomiting:
 Occurs shortly after feeding.
 Usually starts after the 2nd – 3th weeks of life (Rarely before or after)
 Initially, non-projectile then projectile
 Non bile stained.
 Baby is often hungry after vomiting.
2. Constipation; passage of small, infrequent stools
Examination

Baby is marasmic & dehydrated

Palpable mass (olive

tumor):
Visible peristalsis
 In the right
from the left to the
hypochondrium
right
 Mobile & non tender

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Differential diagnosis
1. Gastroesophageal reflux disease
2. Adrenal insufficiency (metabolic acidosis and elevated serum potassium
and urinary sodium concentration)
3. Inborn errors of metabolism can produce recurrent emesis with alkalosis
(urea cycle) or acidosis (organic acidemia) and lethargy, coma, or
seizures.
4. Gastro enteritis
5. Other anomalies: pyloric membrane or pyloric duplication, Duodenal
stenosis
Investigations
1. For diagnosis
A. Barium meal demonstrates:

Elongated narrow pyloric

Canal “string sign”
Parallel streaks of barium Markedly dilated
seen in the narrowed stomach
channel “double tract
sign”

Bulge of pyloric muscle into

antrum “shoulder sign”

B. Abdominal ultrasound: Confirms diagnosis with 95% sensitivity

Criteria for diagnosis:

2. For complications
* Hypochloremic metabolic alkalosis (npH, pCL)
* Hyponatremia & hypokalemia

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Treatment
1. Surgical: 5DPVWHGW¶VS\ORURP\RWRP\
 Pre-operative o correct electrolytes disturbance and dehydration
 Post-operative o start small feeds o gradually increasing
 Efficiency :100% curative

2. Medical: Not efficient, it includes:

 Antispasmodic before feeds
 Small, thick, frequent feeds
 Keep upright for 1 hour after feeding

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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3 Illustrated Baby Nelson

Congenital Aganglionic Megacolon

(Hirsch sprung Disease)

Definition
 Functional obstruction of the colon due to absence of ganglion cells in bowel wall
 Commonest site: rectosegmoid in 75%
Incidence
 1 / 5000
 Male: Females = 4: 1 (positive family history may be present).
Clinical picture
1. Presentation may be:
Neonatal (80%):  Delayed passage of meconium beyond 48 hours.
 May be acute obstruction
In older child:  Chronic constipation and abdominal distension.
 Large fecal mass felt in left lower abdomen with
empty rectum
2. Complicated cases:
ƒ Enterocolitis:
 Infection with clostridia difficile, staph aureus and anaerobes
 Presented with bloody diarrhea & toxemia
ƒ Intermittent attacks of intestinal obstruction.
ƒ Failure to thrive due to protein losing enteropathy
Investigations
1. Rectal suction biopsy (from narrow segment)
 The gold standard for diagnosing Hirschsprung disease
 Reveals absent ganglia
2. Barium enema:
 Unprepared contrast enema aid in the diagnosis in
children older than 1 month of age
 Classic findings: an abrupt narrow transition zone
between the normal dilated proximal colon and a
smaller caliber obstructed distal aganglionic segment
Treatment
1. Surgical repair.
2. Preparation before surgery:
- Regular evacuation of rectum.
- Antibiotics.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Hepatology
Functions of the liver
ƒ Synthesis of all proteins (except gamma globulin and F VIII)
ƒ Synthesis and excretion of Bile.
ƒ Synthesis and excretion of cholestrol.
ƒ Carbohydrate: - Post prandial o convert glucose to glycogen.
- Fasting o convert glycogen to glucose.
ƒ Detoxication e.g. converts ammonia to urea.
N.B Hepatic enzymes
:

n Intra cellular; (Markedly raised in hepatitis):

- Alanine aminotransferase (ALT); more specific to the liver.
- Aspartate aminotransferase (AST).
o Intra canalicular o Alkaline phosphatase, Gamma glutamyle transferase,
5 Nucleotidase Ÿ markedly raised in cholestaisis.

Causes Hepatitis

Metabolic Toxic
With some inborn errors of x Drug e.g.: - INH, rifampicin
metabolism e.g. - Paracetamol overdose
1- Glactosemia
2- Wilson disease x Toxins e.g.: Mush-Room.
3- D1 antitrypsin deficiency.
4- Tyrosinemia.
Infections

Bacterial Protozoa Parasitic

     
- Septicaemia - Malaria - Bilharsiasis
- Enteric fever - Toxoplasma - Hydatid cyst.
- Brucellosis
Viral

Hepatotropic Non hepatotropic

Viruses attack the Viruses may cause hepatitis
liver mainly during its course
e.g.
Enterally transmitted Parenterally transmitted - EBV
    - CMV
- Hepatitis A virus (HAV) - Hepatitis B virus (HBV) - Herpes viruses
- Hepatitis E virus (HEV) - Hepatitis C virus (HCV) - Rubella
- Hepatitis D virus (HDV)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Acute Viral Hepatitis

Enteral viruses
Include hepatitis A (HAV) and Hepatitis E viruses (HEV)
Criteria
ƒ Excreted only in stool (not in body fluids) so infection occur by faeco-oral
route via contaminated water & food.
ƒ None enveloped RNA viruses.
ƒ Incubation period is short (2-6 weeks).
ƒ Epidemiology:-
 Occur in epidemics (highly contagious) or sporadic.
 Mainly in low socioeconomics
 HAV is the commonest cause of acute viral hepatitis in school age.
 HEV is rare in children.
ƒ Outcome
 Complete recovery is the rule; no carrier state nor chronic hepatitis.
 Fulminant hepatic failure may rarely occur.
 HEV has high fatality in pregnant women.

Hepatitis A Virus (HAV)

(Infective Hepatitis)

HAV is the commonest cause of acute viral hepatitis in school age.

Pathology of acute hepatitis
ƒ Hepatocyte injury is due to cytopathic effects
ƒ Cholestatic jaundice with elevated both direct and indirect bilirubin
Clinical picture of acute hepatitis
R Many cases of viral hepatitis pass asymptomatic.
R Symptomatic cases pass in following phases:
I. Pre-icteric phase (2 – 4 weeks)
 Fever, malaise
 Anorexia, nausea, vomiting
 Abdominal pain
 Diarrhea is frequent in children while constipation predominates in adults
II. Icteric phase (2-4 weeks)
ƒ Improved previous symptoms with appearance of:
 Jaundice
 Tender hepatomegaly
 Dark urine + pale stool

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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III.Convalescent phase
 Most patients achieve full recovery
 2 distinct complications can occur
Complications
1. Acute liver failure (ALF)
Incidence: Very rare
 Risk factors: adolescents and adults, immunocompromised patients and
those with underlying liver disorders
 In the USA, HAV represents < 0.5% of pediatric-age ALF
 In endemic areas of the world, HAV represents up to 40% of all cases
of pediatric ALF
Clinically:
 Deep progressive jaundice
 Bleeding tendency (p coagulation factors)
 Generalized edema with ascites
 Disturbed sleep rhythm, tremors, stupor & coma
Fate:
 High mortality rate
 Definitive treatment is liver transplantation.
2. Prolonged cholestatic syndrome
 With problematic pruritus and fat malabsorption
 Waxes and wanes over several months
Investigations
A. To prove acute hepatitis:
1. Liver function tests:
ƒ Aminotransferase levels (ALT & AST)
 Markedly elevated; in thousands
 The elevation level does not correlate with the extent of
hepatocellular necrosis nor to the prognosis
ƒ Serum bilirubin
 Moderately elevated ;mainly conjugated
 The first marker to normalize with recovery
ƒ Alkaline phosphatase o mildn
ƒ Albumin and prothrombin time o usually normal
2. Urine: Dark color due to n cholebilirubin and bile salts
3. Stool: Pale color due to p stercobilinogen.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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In ALF:
1. Aminotransferases rise initially then rapidly decline with rising bilirubin
2. Altered synthetic function:
9 The most important marker of liver injury and defining severity
 Abnormal protein synthesis (prolonged prothrombin time, low serum
albumin levels)
 Metabolic disturbances (hypoglycemia, lactic acidosis,
hyperammonemia)
B. For the cause o viral serology; HAV markers
Marker Significance
Anti – HAV (IgM) Recent HAV infection.
Anti – HAV (IgG) Previous HAV infection or HAV vaccination;
confers long-term protection
Management
General
 Exclusion of school or child care till one week after clinical jaundice
 Hand washing after defecation or dealing with infected child
 Sterilization of toilet after use
HAV prophylaxis
Indications:
ƒ
ƒ
x


x
 



HAV vaccine (e.g. Havrix):
 Inactivated vaccine, approved
 Dose: 2 doses 6 months apart, IM.
Treatment


.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
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‫‬
‫‬

‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‪.‬‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ ‫ﺭﻓﻌﻪ ﺩ‪ .‬ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‪.‬‬

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‫‪3‬‬ ‫‪Illustrated Baby Nelson‬‬

‫‪Hepatitis E virus‬‬

‫ƒ‬
‫ƒ‬
‫ƒ‬
‫ƒ‬

‫‬

‫‬

‫‬

‫‬

‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‪.‬‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ ‫ﺭﻓﻌﻪ ﺩ‪ .‬ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‪.‬‬

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Parenteral viruses
Include Hepatitis B virus (HBV), Hepatitis C virus (HCV) and Hepatitis D virus
(HDV)
Criteria:
Acute hepatitis due to parenteral viruses occur sporadically not in epidemics
HBV HCV HDV (Delta virus)
Nature Enveloped DNA virus. Non Non enveloped RNA virus
enveloped o need HBV coat to be
RNA virus. infective (defective virus;
dependent on HBs Ag).
Risk factors ƒ Perinatal exposure to an infected mother (The most important
risk factor for acquisition of HBV in children )
ƒ Parenteral via:
 Post transfusion ; via contaminated blood products (The
most important risk factor for acquisition of HCV)
 Hemodialysis patients
 Drug abusers
ƒ Sexual
ƒ No risk factors identified in approximately 40% of cases
Incubation
2-6 months 2-4 months
period
Pathology of acute hepatitis
ƒ Hepatocyte injury can be due to:
 Cytopathic effects (by all except HBV)
 Immune mediated cell lysis (by HBV & HCV)
ƒ Cholestatic jaundice with elevated both direct and indirect bilirubin
ƒ In perinatal HBV infection : markers of infection and antigenemia appear
1-3 mo after birth
Clinical picture of acute hepatitis
ƒ Many cases of acute hepatitis pass asymptomatic
ƒ Symptomatic cases are similar to that of HAV
ƒ Acute HCV infection tends to be mild and insidious in onset unlike HBV
ƒ Extrahepatic manifestations due to circulating immune complexes; mainly in
HBV & HCV:
 Serum sickness like prodrome marked by arthralgia or skin lesions e.g.
urticarial, purpuric, macular, or maculopapular rashes
 Aplastic anemia
 Glomerulonephritis
 Vasculitis

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Complications
1. Chronic carrier state
2. Chronic hepatitis
Risk:
 Risk of chronic HBV infection is 90% in children younger than
1 yr; 30% for those 1-5 yr and 2% for adults
 HCV is the commonest cause ever of chronic viral hepatitis
Complications
 Cirrhosis & liver cell failure.
 Hepatocellular Carcinoma
3. Acute Liver Failure (ALF); risk increases when there is coinfection or
superinfection with HDV and in an immunosuppressed host
4. Reactivation of chronic infection has been reported in immunosuppressed
children
Investigations
I. To prove acute hepatitis: As in HAV

II. For Etiology: Viral Markers

1. For HBV
Marker Significance
ƒ HBs Ag  Acute infection; its rise closely coincides with the
onset of symptoms
 If persist > 6 months o indicate chronic hepatitis
ƒ Anti HBc Ag IgM  Acute infection; Reliable single marker later in the
acute phase as HBs Ag fall before the symptoms
disappear
ƒ Hbe Ag  Acute infection ; a marker of active viral replication
and usually correlates with HBV DNA levels
 HBe Ag positive mothers put very high risk of
perinatal transmission to their babies
ƒ Anti HBc Ag IgG  Infection; recent or chronic
ƒ Anti HBs Ag  If present alone, it indicate previous vaccination.
 If present with anti-HBc Ag o resolved infections.
N.B. HBc – Ag is present only inside the hepatocytes.
Hbe – Ag is not structural antigen but it is produced by self-cleavage of the core antigen

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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2. For HCV and HDV

 Detect specific RNA by PCR.
 Detect specific antibodies.
N.B: Children born to HCV-infected womenĺ test for qualitative PCR in
infancy and anti-HCV after 12-18 mo of age
Prevention
1. Blood donation screening
2. HBV immunization
Combined: Both vaccine and immunoglobulin
A. Post exposure prophylaxis for infant born to HBs Ag + ve mothers
ƒ HBV immunoglobulin 0.5 ml IM, within 12 hr after birth plus the
first dose of HBV vaccine (which is given as 0, 1, 6)
ƒ Protective value of this regime is > 95%
ƒ Follow up: Post vaccination testing for HBsAg and anti-HBs should
be done at 9-18 mo:
 Positive for anti-HBs ĺ The child is immune
If  Positive for HBs Ag only ĺ The child is infected
 Negative for both HBsAg and anti-+%VĺRepeat the vaccine
B. Post exposure in older child:
HBV immunoglobulin: 0.06 ml/kg within 24 hrs plus HBV vaccine
which given as 0, 1, 6
Active
ƒ HBV vaccine: (Recombivax HB and Engerix-B)
ƒ Nature: Recombinant DNA vaccine.
ƒ Time: 3 doses, IM at 0, 1, 6 months
Treatment
R As for HAV; Treatment of acute infection is largely supportive.
R Close monitoring for liver failure and extrahepatic morbidities is key
R Acute liver failure management include:
 Referral to PICU in a center expert in liver transplant
 Monitor vitals , conscious state and hepatic / renal chemistry
 Fluid ,glucose, ammonia and electrolytes monitoring and correction
especially for hypophosphatemia (high phosphate is a bad sign)
 Restrict or forbid proteins initially
 Gastriprotection :proton pump inhibitors
 Oral antibiotics (e.g. Neomycin) and Lactulose to sterilize the colon
 Frequent enema preferably with lactulose
 Correct coagulopathy by vit K, fresh frozen plasma or factor VIIa
 In advanced cases with coma: Hepatic dialysis/transplantation

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Chronic Hepatitis


Definition: An inflammatory process of the liver lasting longer than 6 months.

Recently o continuing hepatic inflammatory process manifested with severe
liver disease or features of chronicity (shorter time can be employed)
Chronic persistent hepatitis Chronic active hepatitis
Causes ƒ Auto immune o the commonest
Viral o HBV, HCV ƒ Viral o HBV, HCV, Delta virus.
ƒ Metabolic o e.g. Wilson disease.
Pathology - Erosions of the limiting plate.
- Inflammation limited to the portal zone - Piecemeal necrosis of hepatocytes.
- Little or no fibrosis. - If severe o bridging necrosis
- No cirrhosis. o fibrous septa
Clinical picture 1. Most cases have:
- Asymptomatic - Hepatosplenomegaly (HSM)
- May be non-specific: malaise, anorexia - Liver cell failure (LCF)
- May be tender hepatomegaly. 2. In auto immune; type there may be also:
- Iridocyclitis
- Thyroiditis
- Vasculitis o nephritis
- Serositis o arthritis , pleurisy
- Immune hemolytic anemia
- Clubbing
Complications Common:-Cirrhosiso portal hypertension
Very uncommon -Fulminate hepatic failure.
Investigations
1. Is it hepatitis? Yes. Yes
- ALT & AST o mild increase. o High (not alkaline phosphatase)
- Bilirubin o No or slight increase. o High. (2-10 mg/dl – mainly direct).
2. Is there liver decompensation? No Yes
- Albumin o Normal. o Low
- Prothrombine time o normal. o Prolonged
3. What is the cause?
- HBV & HCV markers. 1- Viral markers.
2- For auto immunity:
- Anit nuclear antibody (ANA).
- Anti – smooth muscle antibody.
- Anti liver kidney microsomal antibody
- Anti soluble liver antigen antibody.
- Elevated Ȗ-globulin levels
3- Metabolic assay.
- Liver biopsy o diagnostic

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Treatment
1. Supportiveo As in acute hepatitis
2. Follow up o Clinical (for signs of decompensation) and laboratory.
3. Specific:
Auto immune hepatitis:
R Steroids 1-2 mg / kg /day till ALT & AST less than twice high normal
R Then taper slowly over 2-4 months to reach maintenance dose of 0.1 – 0.3
mg/kg/day

If steroids were poorly effective or have side effects

R Azathioprine is added with frequent monitoring for bone marrow

suppression
R Measurement of thiopurine methyltransferase activity before azathioprine
therapy is a predictive of myelotoxicity

Post viral:
HBV
ƒ Treatment is only indicated for patients in the immune active form of the
disease, as evidenced by elevated ALT and/or AST, who have fibrosis on
liver biopsy
ƒ Medications
 Interferon-ĮE
 Peginterferon-Į
 Lamivudine
 Adefovir
HCV
ƒ Medications approved by the FDA for use in children older than 3 yr of
age with HCV hepatitis
 Interferon-ĮE
 Peginterferon
 Ribavirin
 New therapies: direct-acting antivirals: Sofosbuvir and Simeprevir

4. Treat complications e.g.

 Cirrhosis and fulminant hepatic failure o liver transplant

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Reye’s syndrome
Definition
Acute mitochondrial encephalopathy with hepatic fatty degeneration
Clinical picture
ƒ Precipitated in a genetically susceptible person by the interaction of a viral
infection (influenza, varicella) and salicylate and or antiemetic use
ƒ Manifestations appear 5-7 days following viral infection

ƒ Acute hepatomegaly ƒ Acute rise of the intra cranial tension:

ƒ The patient remains anicteric  Severe profound vomiting
 Delirium and stupor
 Generalized fits o coma
 Eventual herniation is the main
cause of death
Diagnosis
ƒ Coagulopathy and elevated ƒ Cranial CT o Brain edema
aminotransferases, and ƒ CSF is normal but with raised
ammonia and hypoglycemia pressure (be cautious with lumbar
ƒ Liver biopsy o Fatty puncture)
infiltration and mitochondrial
damage
Differential diagnosis
Reye like conditions with some inborn errors of metabolism e.g. Fatty acid
oxidation defects and valproate toxicity
Treatment
Largely supportive
 Supportive care for acute liver failure
 Coma care and reduction of raised intracranial tension



.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Wilson diseases
(Hepato lenticular degeneration)

AR defect in ceruloplasmin (Copper carrying protein) o Copper accumulate in:

ƒ Liver Forms of hepatic disease include
 Asymptomatic hepatomegaly (± splenomegaly)
 Subacute or chronic hepatitis
 Acute hepatic failure
 Cryptogenic cirrhosis, portal hypertension
ƒ Basal ganglia  Intention tremor, dysarthria, rigid dystonia, chorea
 Deterioration in school performance
 Behavioral changes/ Psychiatric manifestations
ƒ Anemia  Coombs-negative hemolytic anemia
ƒ Cornea  Kayser Flisher ring
(absent in young patients)

ƒ Renal tubules  Tubular defects (Fanconi like)

Diagnostic triad
- p Serum ceruloplasmin (< 20 mg/dL).
- n Urinary copper excretion after loading dose of D-penicillamine
- Liver biopsy o hepatic copper accumulation.
Screening
Family members of patients with proven cases require screening for
presymptomatic Wilson disease. Screening include determination of the serum
ceruloplasmin level and urinary copper excretion
Treatment
ƒ Restrict GLHWDU\FRSSHULQWDNHWRௗPJGD\
ƒ Copper chelating agent
 D-penicillamine ௗPJNJGD\(penicillamine is an antimetabolite of
vitamin B6, additional amounts of this vitamin are necessary)
 Alternative : triethylene tetramine dihydrochloride (trientine)
ƒ Adjuvant therapy: Oral zinc
ƒ Liver transplant

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Liver Cirrhosis
Definition: Chronic liver disease with triad of:
- Hepatocytes necrosis.
- Regeneration nodules.
- Lost hepatic architecture.
Causes: - Post hepatitic.
- Metabolic: e.g. Wilson & hemochromatosis.
- Biliary: 1ry or 2ry to bile flow obstruction.
- Chronic hepatic congestion: cardiac cirrhosis.
Clinical picture
ƒ Compansated : Clinical picture of the cause.
ƒ Decompansated: Features of liver cell failure
1- Jaundice.
2- Bleeding tendency: - Skin bruises.
- GIT bleeding o Hematemesis & melena.
3- Ascites & generalized edema.
4- Hepatic encephalopathy:
- Due to increased ammonia and neurotoxins (false neurotransmitters).
- Manifested by: Disturbed sleep rhythm, flapping tremor, coma.
5- Hepato-renal syndrome: Functional renal failure in patients with end stage
liver disease due to intense renal vasoconstriction with systemic vasodilatation
o renal hypoperfusiono pre renal failure
6- Hepato pulmonary syndrome: - Intrapulmonary vascular dilatation o right
to left shunting of blood o hypoxemia, dyspnea, cyanosis & clubbing.
7- Others: - Feotor hepaticus.
- Palmar erythema.
- Spider nevi.
- Muscle wasting.
Diagnosis
1- To prove cirrhosis: - Abdominal ultrasound & MRI.
- Liver Biopsy o diagnostic (but avoided if decompensated)
2- For the cause: e.g. viral markers.
3- For complications:
- Liver functions tests o bilirubin, prothrombin time, albumin.
- Portal hypertension o see later.
Treatment
1- Supportive o Carbohydrates and vitamins rich diet
o Low salt diet (for cases with edema)
o Limit protein (for cases prone to encephalopathy)
2- Ant fibrotic: Colchicine.
3- Treatment of complications.
4- Liver transplant.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Ascites
Definition: Accumulation of fluid in peritoneal cavity.
Transudate Exudate Bloody Chylous
- Clear - Turbid Bloody with Milky white
- pproteins (<3gm/dl) - > 3 gm / dl RBCs on mic. ex.
- p Cells - n cells (PMNL)
- pSpecific gravity. - n (> 1018)
- No organisms. - may be organisms.
Causes: - Septic peritonitis - Trauma Rupture thoracic
1. Causes of generalized - T.B. peritonitis - Tumors duct due to trauma.
edema; cardiac, hepatic - Non microbial: - Bleeding disorders Or obstruction.
, renal x systemic lupus - Acute hemorrhagic
2. poly serositis x Metastasis pancreatitis
x B-cell lymphoma
Other causes: Bilious, urinary
Clinical diagnosis: see SHOTS clinical examination
Treatment of hepatic ascites:
1- Liver support (vitamins, avoids hepato toxic drugs, high carbohydrate diet).
2- Low salt and protein diet.
3- Diuretic: Aldactone.
4- Albumin or plasma infusion.
5- Therapeutic paracentesis provided:
- Tense ascites.
- Prothrombin concentration > 40%.
- Bilirubin < 10 mg/dl.
- Platelets > 40.000/mm3.
- Creatinine < 3 mg/dl.
- Aspirated volume not more than 20ml/kg/setting

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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 Portal Hypertension
Definition: an elevation of portal pressure >10-ௗPPௗ+J (normal < 7 mmHg)
Causes:
Portal hypertension can result from obstruction to portal blood flow anywhere
along the course of the portal venous system
i. Extra hepatic portal hypertension:
ƒ Portal or splenic vein thrombosis due to:
 Umbilical infection.
 Neonatal sepsis.
 Hypercoagulable states e.g. protein S & protein C deficiency.
 Intra-abdominal infections
ƒ Inferior vena cava obstruction with e.g. constrictive pericarditis/
thrombosis
ƒ Congestive heart failure/tricuspid regurge
ii. Intra hepatic portal hypertension:
1. Pre sinusiodal ĺ - Chronic hepatitis.
ĺ - Schistosomiasis.
ĺ - Portal tract infiltrations
2. Sinusiodal ĺ - Cirrhosis (the commonest cause)
- Veno oculsive disease
3. Post sinusoidal ĺ - Budd-Chiari syndrome
(Nelson textbook of pediatrics 2016)
Clinical picture
ƒ Opened collaterals
 Esophageal varices o hematemesis & melena(the commonest presentation)
 Caput medusa
 Hemorrhoids
 Venous hum
ƒ Splenomegaly (the next most common presentation)
ƒ Ascites
ƒ Liver is
 Shrunken in cirrhosis.
 Enlarged tender in post sinusoidal causes
 Normal in prehepatic causes.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Investigations
1- Abdominal ultrasound o for liver, spleen, ascites.
2- Measure portal vein pressure by ultrasound Doppler.
3- Upper GIT endoscopy for esophageal varices
4- Search for the cause.
Treatment
i. Emergency treatment (Control bleeding esophageal varices):
ƒ ABC
ƒ Take blood sample for investigation & ask for blood.
ƒ Order fresh blood transfusion
ƒ Fluid resuscitation followed by replacement of red blood cells
ƒ Correct coagulopathy by:
 Vitamin K I.V
 Fresh frozen plasma or platelets
 Place nasogastric tube o to monitor ongoing bleeding.
 H2-receptor blocker or proton pump inhibitor should be given
intravenously o reduce the risk of bleeding from gastric erosions

In most patients, particularly those with extrahepatic portal hypertension and

with normal hepatic synthetic function, bleeding usually stops spontaneously

With continued bleeding

ƒ Vasopression or Octreotide I.V infusion o p splanchnic flow.
ƒ Nitroglycerine skin patch decrease portal pressure and can ameliorate
some of its untoward effects of vasopressin
ƒ Endoscopic sclerotherapy with ethanol amine or much better band
ligation of varices.

With continued bleeding

ƒ Sengstaken – Blackmore tube o mechanical compression of
esophageal & gastric varices (this device is rarely used now)
ii. Prophylactic (Prevent subsequent bleeding):
ƒ Propranolol o p portal pressure
ƒ Porto-systemic Shunt operation
ƒ Trans jugular intrahepatic porto systemic shunt (TIPS) by an
interventional radiologist (problemĺPD\ precipitate hepatic
encephalopathy and is prone to thrombosis).
iii. Orthotopic liver transplantation

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Gastrointestinal Bleeding
Causes
ƒ Upper GIT bleeding: Bleeding from above the ligament of Treitz:
a. Esophageal:
 GERD
 Varices
 Tumors.
b. Gastric ulcers.
c. Duodenal ulcers.
ƒ Lower GIT bleeding: Bleeding below the ligament of Treitz:
 Inflammatory bowel disease.
 Intestinal obstruction (intussusception & volvulus
 Meckel’s diverticulum.
 Gastroenteritis.
 Anal fissure.
ƒ Hemorrhagic blood disease:
Result in either upper or lower GIT bleeding e.g. hemophilia, purpura, DIC.
Management
1. Emergency treatment as (See bleeding esophageal varices).
2. Search for the cause:
a. History of: - Bleeding disorder// Liver disease.// Gastroenteritis.
b. Examination:
- Skin for o Signs of chronic liver disease.
o Signs of coagulopathy (e.g. purpura & Bruises)
- Abdominal o Hepatosplenomegaly (in chronic liver disease & leukemia)
o Distension (intestinal obstruction)
- P/R examination o For perianal ulcers & polyps.
c- Investigations:
- Rule out hemorrhagic blood diseases by o CBC
o Coagulation profile
o Liver function tests
- Abdominal X-ray and ultrasound o for obstructions & organomegaly.
- Stool analysis o For gastro enteritis & enterocolitis.
- Endoscopy o for varices, ulcers, polyps.
Treatment: of the cause
ƒ Medical e.g. for Hemorrhagic blood diseases, Gastro Enteritis
ƒ Interventional / Surgical e.g. for Varices, Polyps

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Veno Occlusive Disease(VOD)

(Sinusoidal obstruction syndrome)
The most common cause of hepatic vein obstruction in children
Definition : Intrahepatic obstruction of hepatic veins.
Causes : After total body irradiation with or without cytotoxic drug
May be toxic injury by herbal teas or drugs
Clinical picture
Acute VOD Subacute VOD Chronic VOD

- Portal hypertension - Portal hypertension - Portal hypertension

- Hepatomegaly. - Hepatomegaly - Cirrhotic liver
- No splenomegaly. - Splenomegaly - Huge Splenomegaly
Diagnosis
1- As for portal hypertension
2- Liver biopsy o diagnostic.

Treatment
- Supportive
- In severe cases: liver transplantation

Budd Chiari Syndrome

Definition: Obstruction of the main hepatic veins.

Causes
 Hypercoagulable states e.g. Polycythemia ,
 Can complicate hepatic or metastatic neoplasms, collagen vascular disease,
infection, and trauma
Clinical picture

Acute stage Chronic stage.

- Acute hepatomegaly - Hepatomegaly.
- Acute abdominal pain & vomiting. - Portal hypertension.
- Acute ascites
Treatment
- Supportive
- In severe cases: liver transplantation

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
 ‫\‪(QGRFULQRORJ‬‬
‫‬
‫‬

‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‪.‬‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ ‫ﺭﻓﻌﻪ ﺩ‪ .‬ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‪.‬‬

‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‪14‬‬
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Hypopituitarism

Definition
Underproduction of growth hormone (GH) alone or in combination with
deficiencies of other pituitary hormones
Physiology of growth hormone

ƒ GH is secreted form the anterior

pituitary in bursts (i.e. pulsatile
pattern)under control of hypothalamic
GH releasing hormone (GH. rH)
ƒ GH release is:
 Stimulated by sleep, exercise and
hypoglycemia
 Inhibited by somatostatin

Actions
ƒ Anabolic hormone especially on
long bones and muscles
ƒ Action is mediated by Insulin
Growth Factor 1 produced by the
liver:
 Increase protein synthesis
 Anti-insulin effect o lipolysis &
n blood glucose

Causes
i. Isolated growth hormone deficiency:
A. Genetic: due to
ƒ Mutation of growth hormone genes; AR, AD or XLR.
ƒ End organ resistance:
 Defective GH receptors e.g. Laron syndrome
 Post receptor GH insensitivity e.g. abnormal IGF gene or receptor
B. Acquired:
ƒ Idiopathic (The most common).
ƒ Post cranial irradiation (e.g. for leukemia).

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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ii- Multiple pituitary hormones deficiency:

A. Genetic:
 Due to mutations of multiple pituitary hormones genes e.g. PROP1
 Associations: May be optic nerve dysplasia (septo optic dysplasia).
B. Congenital:
 Pituitary aplasia or hypoplasia.
 Association: May be mid facial anomalies e.g cleft palate, solitary
maxillary central incisor
C. Acquired any lesion at hypothalamo- hypophyseal region:
 Tumors e.g. Craniopharyngioma
 Trauma
 Infiltration e.g. histoiocytosis
Clinical picture
1. At birth:
 Normal size (near normal weight and height)
 Micropenis is a diagnostic clue.
 May be neonatal emergency as apnea, cyanosis,
hypoglycemia
 May be mid facial anomalies e.g. cleft lip & palate
2. Later on:
Normal intelligence
Severe growth failure
 Proportionate short stature
Childish facies
 Height below the 1st
 Small face, nose &
percentile for age and sex
mandible
or height >2 SD below sex
 Prominent forehead &
adjusted Mid-parent height
depressed nasal bridge
 Growth velocity < 5cm/year
 Wide anterior fontanel &
 Appear by the end of the 2nd
fine hair
year  Delayed teething

ƒ Micropenis in childhood; normal for body size in adults

ƒ Hypoglycemia: in infants and children; fasting symptoms in some adults

3. May be features of:

 Septo optic dysplasia : nystagmus & visual impairment in infancy
 Mid facial anomalies e.g. cleft lip / palate, solitary maxillary
central incisor
 Increased intra cranial tension (in destructive lesions)
 Associated hormonal deficiency e.g. hypothyroidism, diabetes insipidus

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Investigations
1. Screen for GH deficiency
ƒ Low serum levels of IGF-1 and the GH-dependent IGF-Binding Protein 3
matched to normal values for skeletal age rather than chronological age
ƒ Normal values IGF-1 and IGF-Binding Protein 3 indicates GH deficiency
unlikely
2. Confirm GH deficiency
ƒ Measure peak levels of GH after provocative agents; insulin, clonidine, or
arginine or glucagon:
 Normal peak levels of GH Ÿ > 10 ng/ml
 Low peak levels of GH (<10 ng/mL) Ÿ GH deficiency
 To confirm diagnosis 2 provocative tests should be done
ƒ In prepubertal children: A 3 days of estrogen priming should be used
before GH testing to achieve greater diagnostic specificity.
3. For associated deficiencies:
 Measure other anterior pituitary hormones.
4. For the cause:
 Skull CT & MRI for pituitary tumors, aplasia or hypoplasia
 TRH stimulation test (differentiate between hypothalamic and
pituitary causes)
 Random prolactin level: high in hypothalamic defects
5. For effect: Radiograph for delayed bone age
Treatment
1. Recombinant GH:
ƒ Dose: 0.18-0.3 mg/kg/week, divided into 6-7 daily subcutaneous
injections should be used as soon as GH deficiency is diagnosed
ƒ Criteria to stop therapy:
 A decision by the patient that he or she is tall enough
 A growth rate <1 inch/yr
 And a bone age >14 yr in girls and >16 yr in boys
ƒ Concurrent treatment with a gonadotropin-releasing hormone (GnRH)
agonist to interrupt puberty will delay epiphyseal fusion and prolong
growth
ƒ Side effects of GH therapy:
 A 6-fold increase in the risk for type 2 diabetes
 Pseudotumor cerebri
 Slipped femoral epiphysis
2. Recombinant IGF-1 for end organ unresponsiveness (e.g. Laron syndrome)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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3. Treatment of other hormonal deficiency

4. For infants with micropenis:
One or two a 3-mo courses of monthly intramuscular injections of 25 mg of
testosterone enanthate can bring the penis to normal size

Puberty
Definition
ƒ It is a period of growth lasting 5 years, consisting of 3 stages and includes
physical, sexual & psychological changes.
ƒ Onset Girls: 8-13 years, Boys: 9-14 years
ƒ Sequence :
Girls Boys
- Breast development - Testicular growth
- Pubic hair - Pubic hair
- External genitalia maturation - Penis and scrotal growth
- Feminine habitus - Increased muscle bulk
- Axillary hair - Body hair (beard, axillary)
- Oil secretion and acne - Oil secretion and acne
- Menstruation - First seminal discharge.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Thyroid Gland
Thyroid gland secrete
ƒ Thyroid hormones:
 Thyroxine (T4)
 Triiodothyronine (T3) ; more potent than T4
ƒ Calcitonin (which deposit calcium salts in bone).
Functions of thyroid hormones
1- Normal maturation of the growing brain in the 1st year of life.
2- Normal skeletal growth.
3- Oxidative metabolism & energy production in all cells
Thyroid hormones synthesis
R Iodide transport (Trapping).
R Iodide is oxidized to iodine by thyroid peroxidase enzyme (organification).
R Iodination of tyrosine to form Mono & Di iodo tyrosine.
R Coupling of:
 2 Di iodotyrosine o T4
 Monoiodotyrosine & Di iodotyrosine o T3
R T3 & T4 are stored in thyroid gland as colloid (thyroglobulin).
R Only 20% of circulating T3 is produced by thyroid while 80% is produced by
peripheral conversion of T4 by deiodinase

Trapping
Iodide Iodide

Oxidation by peroxidase

Organic Iodine

Tyrosine

Mono /Di iodo tyrosine

Coupling

T3,T4 Store as thyroglobulin

Control of thyroid function:

ƒ Thyroid is regulated by pituitary thyroid stimulating hormone (TSH) in a
feedback mechanism.
ƒ TSH synthesis & release is controlled by hypothalamic TSH releasing hormone
(TRH).

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Congenital hypothyroidism

Causes
A. Primary hypothyroidism:
1. Thyroid dysgenesis:
 The commonest cause (85%).
 Aplasia, hypoplasia or ectopic gland (may be lingual,
sublingual or subhyoid).
2. Defective thyroid hormone synthesis (Dyshormonogenesis):
 The second common (15%)
 Autosomal recessive disorders
 Associated with goiter.
ƒ Examples:- Iodide transport defect.
- Organification defect: defective thyroid peroxidase enzyme
3. Transient hypothyroidism:
 Trans placental passage of maternal anti thyroid drugs
 Neonatal iodine containing antiseptics
4. Maternal iodine deficiency ĺEndemic goiter
5. End organ unresponsiveness to: - TSH.
- T3 & T4 (Pseudohypothyroidism).
B. Secondary hypothyroidism:
Due to TSH deficiency either: - Isolated or.
- With multiple pituitary deficiencies.
C. Tertiary hypothyroidism:
Due to TSH releasing hormone deficiency
Incidence: 1:4000; Female: male = 2:1.
Clinical picture
A. In neonatal period: there is may be
 Prolonged physiologic  Lethargy; cry little,
jaundice sleep much.
 Poor feedingĺ chocking  Widely open posterior
spells during feeding. and anterior fontanels
 Subnormal temperature (Good initial clue)

 Noisy breathing due to large  May be heavier at Birth

tongue.  May be Limbs and
 Abdomen : constipation & genital edema
umbilical hernia
.
N.B: Most infants with congenital hypothyroidism are asymptomatic (due to Trans placental
maternal thyroxin ), so neonatal screening is mandatory

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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B. Full picture (by end of the 1st year): (cretinism)

* Delayed growth Ÿ Short stature with persistent infantile proportions
* Delayed mental milestones
* Delayed motor milestones
* Physical features may include:

Head Neck
ƒ Coarse, brittle hair with low ƒ Short neck with supraclavicular pad
anterior hair line of fat
ƒ Delayed closure of anterior ƒ Thyroid is enlarged in
fontanel  Endemic goiter.
ƒ Eyes are puffy, narrow palpebral  Dyshormonogenesis
fissure  Pseudohypothyroidism
ƒ Broad nose & depressed bridge ƒ Hoarse cry
ƒ Delayed teething
ƒ Thick large protruding tongue

Cardiac Limbs
 Bradycardia  Short broad hands
 Pericardial effusion  Generalized hypotonia
 Cardiomegaly  Occasional reversible
generalized
Abdomen pseudohypertrophy most
 Protuberant prominent in calf (Kocher
 Umbilical hernia Debre Semelaigne Syndrome)
 Constipation

Genitalia Skin
 Delayed maturation  Cold & pale (resistant anemia)
 Rarely precocious  Dry (nmyxematous tissue)
puberty  May be yellow (n carotene)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Investigations
1. Confirm diagnosis of hypothyroidism
ƒ Low serum free T4 (In hypothyroidism there’s compensatory increase in
peripheral conversion of T4 to T3; so measuring of T3 may be misleading)
ƒ Serum TSH
 High in primary hypothyroidism
 Low in secondary and tertiary hypothyroidism.
ƒ In pseudohypothyroidism T4, T3 and TSH all are high
2. For effect
Radiograph findings

(a) (b) (c)

ƒ Delayed bone age:
 At birth o absent distal femoral epiphysis (in plane knee radiograph)
in 60% of cases (a)
 Later o delayed appearance of ossific centers (by wrist x-ray)
ƒ Epiphyseal dysgenesis: multiple foci of ossification in heads of femur &
humerus (b)
ƒ Skull X-ray o Intrasutural (Wormian) bones (c) and large fontanels
ƒ Beaking of anterior part of T12 & L1 vertebrae.
Cardiac
ƒ ECG shows bradycardia and low voltage.
ƒ Echo / Chest x ray may show cardiac enlargement and effusion.
Others
ƒ High serum cholesterol/ Macrocytic anemia
3. For the cause
a. Thyroid scintigraphy (using radioactive 123I):
ƒ Absent uptake in:
 Aplasia
 Iodide trapping defect
ƒ Normal or increased uptake
in dyshormonogenesis.
ƒ Can localize ectopic thyroid.

Normal thyroid position Lingual thyroid in an infant

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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b. TRH stimulation test: (performed only with p TSH)

ƒ Differentiate between hypothalamic & pituitary defects
ƒ Give an i.v. bolus of TRH:
 If T4 increases o hypothalamic defect i.e. Tertiary hypothyroidism
 If T4 does not increase o pituitary defect i.e. Secondary hypothyroidism
c. Skull CT & MRI for pituitary tumors.
Treatment
ƒ Replacement therapy with sodium L-thyroxin (Eltroxin 50 μg tablet) for life
ƒ Dose: 10-15 μg/kg/day in neonate (start with the higher dose if T4 < 5 μg/dl)
6 - 8 μg/kg/d in infant
4 μg/kg/d in child
ƒ Follow up and monitoring
 Clinical: for activity, milestones, growth and overtreatment
 Lab: for T4 and TSH (done monthly in the first 6 mo of life, then
3 monthly)
 Radiologic: monitor bone age
NB
x Overtreatment carries risk of craniosynstosis and temperament disorders
x To rule out transient hypothyroidism:
 Discontinue treatment at 3 years for 3-4 weeks and test for TSH; it will
shoot in permanent hypothyroidism
 This test is unnecessary in:
1. Infants with proven thyroid ectopia
2. In those who manifest elevated levels of TSH after 6-12 mo of therapy
because of poor compliance or an inadequate dose of T4

Prognosis
- Diagnosis & treatment before 3 months o normal linear growth and
intelligence
- Delay in diagnosis, failure to correct initial hypothyroxinemia rapidly,
inadequate treatment, and poor compliance in the first 2-3 yr of life result in
variable degrees of brain damage.
- Without treatment, affected infants are profoundly mentally deficient and
growth retarded
- As diagnosis of hypothyroidism is difficult in the first 3 months screening
for thyroid function (usually TSH) in all neonates is done in the first week
of the life

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Acquired Hypothyroidism
Definition: Juvenile hypothyroidism with manifestations appearing after the 1 st
year.(After a period of normal thyroid function).
Causes
1. Thyroiditis
ƒ Autoimmune thyroiditis(Hashimoto disease; chronic lymphocytic thyroiditis):
 The most common cause of thyroid disease in children and adolescents.
It is also the most common cause of acquired hypothyroidism, with or
without goiter
 May be part of polyglandular auto immune syndromes ( associated with
e.g. DM, Addison)
 Children with Down, Turner, and Klinefelter syndromes and celiac
disease or diabetes are at higher risk for associated autoimmune thyroid
disease
ƒ Suppurative.
ƒ Viral e.g. mumps.
2. Injury to thyroid o trauma, surgery, irradiation, cystinosis
3. Iodine containing drugs e.g. cough mixtures.
Clinical picture
 Poor academic progress; but no mental retardation
 Unexplained short stature
 Skin: cold, pale(refractory anemia), excess myxoedematous tissue
 Cold intolerance
 Constipation
 Delayed puberty (may be precocious).
Investigations
As before but
a. Search for auto antibodies for Hashimoto thyroiditis e.g.
R Thyroid antiperoxidase antibodies (TPO-Abs) and
Antithyroglobulin antibodies (anti-Tg Abs)
R TSH blocking antibody (may identify patients at future risk of
having babies with transient congenital hypothyroidism).
b. Check for associated auto immune disorders e.g. auto immune hepatitis,
diabetes mellitus, Celiac disease, Addison disease
Treatment:
ƒ Overt hypothyroidism (elevated TSH, low T4 or free T4), require
replacement treatment with levothyroxine
ƒ For subclinical hypothyroidism (elevated TSH, normal T4 or free T4),
many clinicians prefer to treat such children until growth and puberty
ƒ are complete, and then reevaluate their thyroid function

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Causes of deafness & hypothyroidism

1- Pendred syndrome
Mutation in the chloride-iodide transport protein common to the thyroid
gland and the cochleao impaired iodide organification, & positive
perchlorate discharge test o Sensorineural deafness and Goitrous
hypothyroidism

2- Endemic goiter
3- Neglected hypothyroidism
4- Congenital rubella syndrome

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Short Stature
ƒ Growth is strongly related to the genetic potential. A child's target height
(TH) is calculated by Mid Parent Height as follows:
R Girl = (height of mother in inches + height of father in inches)/2 - 2.5inches
R Boy = (height of mother in inches + height of father in inches)/2 + 2.5inches
ƒ Short stature is height below 3rd percentile for age and sex
ƒ Short stature is either:
Proportionate Disproportionate
- Upper segment/lower segment is - Upper segment/lower segment is abnormal
normal for age for age.
- Height equals span - Height does not equal span
I. Proportionate Short Stature
A. Normal types of short stature (about 90% of cases)
1. Familial (genetic) short stature
A short child who is growing close to his/her
target height percentile
Clues:
 Small birth length (normal for the family)
 Normal bone age and age of onset of puberty
 Short parents (familial)
 Short target height like their parents

2. Constitutional Growth Delay (CGD)

Growth is normal for the 1st 4-12 mo of life. Height is sustained at a lower
percentile during childhood with acceleration late in adolescence when their
peers stop growing leading to a final height that
is close to the target height
Clues:
 Delayed bone and age of onset of puberty
 Other family members (often one or both
parents) with histories of short stature in
childhood, delayed puberty, and eventual
normal stature
 IGF-1 levels tend to be low for
chronological age but normal for bone age

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
 .‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬
‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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B. Pathologic types:
n &KURQLFXQGHUQXWULWLRQĺmarasmus & nutritional dwarfism
o Chronic systemic disease
- Malabsorption syndrome e. g celiac disease, inflammatory bowel disease
- Chronic hemolytic anemia e.g. thalassemia
- Chronic renal failure, renal tubular acidosis, urinary tract infections.
- Chronic chest diseases e.g. cystic fibrosis, asthma
- Chronic heart diseases: congenital, rheumatic, cardiomyopathy
p Endocrinal causes:
- Hypothyroidism.
- Hypopituitarism.
- Hypercortisolism (Cushing syndrome) and adrenal insufficiency
- Precocious puberty
- Diabetes mellitus.
- Diabetes insipidus.
r Psychosocial dwarfism:
ƒ Due to maternal neglect or emotional deprivation
ƒ Evidence of functional hypopituitarism is indicated by low levels of
IGF-1 and suboptimal GH on provocation
ƒ History and careful observations reveal disturbed mother-child or
family relations
ƒ Associations: perverted or voracious appetites, enuresis, encopresis,
insomnia, crying spasms, and sudden tantrums
q Syndromes with short stature e.g.:
- Turner - Noonan
- Down - Other trisomis; e.g. 13 , 18
- Prader Willi - Silver Russell
s Intra uterine growth retardation: 10 –15% will be short.

II. Disproportionate Short Stature

A. With short limbs e.g.
- Achondroplasia
- Rickets
- Osteogenesis imperfecta
B. With short trunk e.g.
- Skeletal dysplasia e.g. Ectodermal dysplasia and Morquio s syndrome
- Fanconi anemia

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Approach to Diagnosis
I. History
* Perinatal for:
 Exposures; infections, maternal drugs
 Birth weight and length (differentiate prenatal and postnatal causes)
 Problems e. g microphallus & hypoglycemia in hypopituitarism.
* Past history suggestive of:
 Chronic systemic disease.
 Endocrinal disorder
* Dietetic history for under nutrition or eating disorders.
* Family history for parent’s height, other short siblings and social problems
II. Examination
Clinical tests
ƒ Check parent’s KHLJKWĺWRUXOHRXWJHQHWLFFDXVHV
ƒ 'HWHUPLQHW\SHRIVKRUWVWDWXUHĺSURSRUWLRQDWHRUGLVSURSRUWLRQDWH
ƒ Plot patient weight and height on growth charts:
1. Short stature following own growth curve:
a. Familial short stature
b. Constitutional growth delay
2. Short stature with decelerating growth pattern
Weight for age < height for age Weight for age > height for age
- Chronic systemic disease - Endocrinopathy e.g. Hypothyroidism
- Chronic undernutrition Cushing , Hypopituitarism
- Cardiac disease - Syndromes
- Skeletal dysplasia
3. Short stature with normal weight for height: Emotional deprivation
Clinical examination
ƒ Evaluate nutritional state: check for muscle wasting, subcutaneous fat
loss and signs of vitamin deficiencies.
ƒ Complete systemic examination: including cardiac, chest, abdomen,
neurologic
ƒ Check for features suggesting endocrinal disorders e.g. hypothyroidism.
ƒ Check for dysmorphic features e.g. Down, Turner
III. Investigations
ƒ Assess bone age by left wrist X-ray:
 Normal in familial short stature
 Delayed in most other causes

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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ƒ Search for systemic diseases by:

 8ULQHDQDO\VLVĺIRUJOXFRVXULD87,RVPRODOLW\
 6WRRODQDO\VLVĺfor malabsorption
 CBC ĺIRUDQHPLD
 (65ĺLQFUHDVHGLQLQIHFWLRQ LQIODPPDWLRQ
 Urea, creatinine ĺfor renal failure
 Chest X-ray ĺIRUVXVSHFWHGFKHVWGLVHDVH
 (FKRFDUGLRJUDSK\ĺIRUVXVSected cardiac defect
 Serum pH, calcium, phosphate for metabolic bone disease
 Specific e.g. Celiac screen, malabsorption workup, chromosomal
studies
3. Hormonal assay:
ƒ Free T4 & TSH for hypothyroidism (Because thyroid hormone is
necessary for normal GH synthesis, it must always be assessed before GH
evaluation)
ƒ Provocative growth hormone level & IGF-1 for hypopituitirsm
ƒ Night time blood or salivary cortisole level for Cushing
ƒ Blood glucose for diabetes
ƒ Serum &urine osmolality for diabetes insipidus
Treatment
1. Treat the cause e.g.
 Gluten free diet for celiac
 EL-troxin for hypothyroid
2. Recombinant growth hormone
“FDA approved indications of GH therapy”:
 GH deficiency
 Turner syndrome
 Chronic renal failure before transplantation
 Idiopathic short stature
 Small-for-gestational age short stature
 Prader-Willi syndrome
 Noonan syndrome
3. Adequate balanced diet
4. Psychologic support

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Diabetes Mellitus
Definition:
ƒ Chronic, metabolic syndrome characterized by hyperglycemia as a cardinal
biochemical feature
ƒ Deficiency of insulin or its action with subsequent defect in metabolism of
carbohydrates, protein & lipids
Actions of insulin
ƒ p Blood glucose by o n Glucose uptake by cells
o p Gluconeogensis
o p Glycongenolysis
ƒ n Lipogenesis
ƒ Anabolic effect
Types of diabetes mellitus
1. Insulin dependent (Type 1 DM)
2. Non-insulin dependent (Type 2 DM)
3. Secondary diabetes mellitus:
ƒ Endocrinopathies: Cushing disease, Hyperthyroidism, Acromegaly
ƒ Drug- or chemical-induced: Steroids, Thyroid hormone
ƒ Diseases of the exocrine pancreas: Hemochromatosis, Cystic fibrosis,
Pancreatitis
Criteria for diagnosis
Fasting plasma glucose 2-hr plasma glucose
during the OGTT
x Diabetes mellitus • mg/dL • 200 mg/dL
(7.0 mmol/L)
x Impaired glucose tolerance 100-125 mg/dL • 140 mg/dL, but
< 200 mg/dL
OGTT: Oral Glucose Tolerance Test, Values in mg/dl

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Insulin dependent diabetes mellitus

Etiology
ȕ-cell destruction leading to absolute insulin deficiency, may be related to:
ƒ Genetic predisposition: associated with HLA -DR3, DR4
ƒ Auto immune response (Humoral & cell mediated response against islet cells):
Evidence:
 Presence of Islet cell autoantibodies
 Association with other auto immune diseases e.g. thyroiditis
ƒ Environmental factors:
ƒ Viral infection e.g.: mumps, rubella, measles, EBV
Pathogenesis
Insulin deficiency results in disturbance of carbohydrate, fat & protein
metabolism.
x Fat metabolism: p Lipogenesis o n free fatty acids ( FFA) on Ketone bodies
x Carbohydrate metabolism:
- Hyperglycemia due to - p glucose uptake & utilization by the cells
- n gluconeogenesis & glycogenolysis
- Hyperglycemia leads to osmotic diuresis o polyuria & polydipsia
x Protein metabolism: n proteolysis o p body weight.
Clinical picture
R Polyuria, polydipsia, polyphagia & weight loss.
R Diabetic keto-acidosis (DKA) is the presenting feature in 25% of cases
(10% in T2DM).
R Secondary nocturnal enuresis
Diagnosis of diabetes mellitus
ƒ Symptoms of diabetes mellitus (include polyuria, polydipsia, and
unexplained weight loss with glucosuria and ketonuria ) plus
random plasma glucose • 200 mg/dL (11.1 mmol/L)
or
ƒ Fasting (at least 8 hr) plasma JOXFRVH• mg/dL (7.0 mmol/L)
or
ƒ 2-hr plasma glucose during the OGTT • mg/dL
or
ƒ Hemoglobin A1C • 6.5% (Results should be confirmed by repeat testing
if in absence of unequivocal hyperglycemia)
(Nelson textbook of pediatrics 2016)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Diabetic Keto Acidosis (DKA)

Definition
ƒ Metabolic disorders due to acute insulin insufficiency
ƒ Risk Factors:
 Omission of insulin dose by error or during inter current illness
 Insulin pump failure
 Adolescent girls
 Psychiatric disorders including eating disorders
 Previous DKA
Pathogenesis
History of exposure of diabetic patient to stresses (e.g. infection, trauma, and psychic).
 
Acute insulin insufficiency

Hyperglycemia nn FFA

 Ketonemia nn ketone bodies.

Osmotic Aceto acetic acid & acetone

diuresis B (OH) Bytric acid
 
Metabolic acidosis acetone odor of breath

Polyuria ketonuria Acute abdominal pain Rapid & deep breathing

& vomiting (Kussmaul breathing)
 
Dehydration
Along with metabolic acidosis Ÿ coma

Clinical stages of DKA

Early Then Later

 Polyuria  Dehydration  Progressive obtundation
 Nausea and vomiting  Rapid, deep, sighing  Impaired consciousness
 Abdominal pain mimicking (Kussmaul)breathing
an acute abdomen

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Diagnosis
ƒ Diagnostic criteria of DKA
Diabetic ĺ+\SHUJO\FHPLDEORRGJOXFRVH>200 mg/dL [§11 mmol/L]
Keto ĺ.HWRQHPLDDQGNHWRQXULD
Acidosis ĺ9HQRXVS+<7.3 and/or bicarbonate <15 mmol/L
ƒ Severity of DKA
Mild Venous pH 7.25-7.35 Or Bicarbonate 16-20 mmol/L
Clinical: Oriented, alert but fatigued
Moderate Venous pH 7.15-7.25 Or Bicarbonate 10-15 mmol/L
Clinical: Kussmaul respirations; oriented but sleepy; arousable
Severe Venous pH <7.15 Or Bicarbonate <10 mmol/L
Clinical: Kussmaul or depressed respirations; depressed sensorium
to coma
Management
ƒ Assess
 Severity of dehydration (most cases are considered 5- 8% dehydrated)
 Level of consciousness using Glasgow coma scale
ƒ Request
 Plasma glucose, HbA1c, urinalysis for ketones, blood ß-
hydroxybutyrate and venous pH
 Electrolytes, blood urea nitrogen, creatinine, calcium, phosphorus, and
magnesium concentrations
 CBC and cultures (blood, urine) if infection is suggested
 ECG for baseline evaluation of potassium status

A. Acidotic phase (in ICU)

DKA is a medical emergency that should follow ABC scheme
ƒ Admit to the ICU
ƒ Airway  Secure the airway
 Insert airway in comatose
 Insert nasogastric tube if conscious level depressed
or the child is vomiting
 100% O2 for hypoxia
ƒ Breathing  ± intubation and ventilation
ƒ Circulation  Site 3 IV lines one for I.V fluids , a 2nd for I.V
insulin and a 3rd sampling cannula
 Obtain blood sample for investigations
 Give antibiotics to febrile patients

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Monitoring using flow sheet

Hourly Two hourly lab tests for the first 12 hours
 Vital signs  Glucose
 Neurologic state for warning signs of  Blood gases
cerebral edema and Glasgow coma  Blood ß-hydroxybutyrate
scale if comatose  Serum electrolytes
 Cardiac monitor for potassium status  Blood urea nitrogen
 Capillary blood glucose  Calcium, magnesium, phosphorus
 Amount of insulin
 Fluid input and output (catheter)
Urine ketones until cleared Weigh the patient twice a day
1. Fluid therapy
Shock therapy
- 10 ml/kg over 1 hour can be repeated up to 30 ml /kg
- 0.9% saline or lactated ringer

In the 2nd hour after the shock therapy and until resolution of DKA:
ƒ Fluid requirement = Fluid maintenance + Fluid deficit (85 ml/kg) – Boluses
fluids given over next 23 hour (36 hours in severe cases)
N.B
ƒ Fluid deficit = % Dehydration × Body weight
ƒ Fluid maintenance (24hr) = 100ml/kg(for the 1st 10 kg) + 50ml/kg (for the 2nd
10) + 25 ml/kg (for all remaining kg)
ƒ Replace any ongoing fluid loss in vomiting or diarrhea or massive polyuria
Type of fluid
ƒ 0.45% NaCl plus 20 mEq/L K phosphate and 20 mEq/L K acetate
ƒ If K <3 mEq/L, give 0.5 to 1.0 mEq/kg as oral K solution OR increase IV K to
80 mEq/L
ƒ Bicarbonate therapy is rarely necessary and may even increase the risk of
hypokalemia and cerebral edema
2. Insulin therapy
ƒ Use regular insulin (e.g. Actrapid)
ƒ Slow infusion 0.1 unit/kg/hour without bolus must be given at the
beginning of therapy
ƒ Prepared by adding 50 units (0.5 ml) soluble insulin to 49.5 ml 0.9%
saline in 50 ml syringe pump to provide 1unit/ml concentration and
insulin started at 0.1ml/kg/hour

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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ƒ Precautions with insulin therapy

If the blood glucose concentration drops too quickly before the DKA has
resolved:
x Serum glucose has decreased < 300 mg/dL ĺGlucose is added as a
5% solution
x Serum glucose has decreased < 200 mg/dLĺGlucose is added as a
10% solution
x If the serum glucose falls further despite these interventions, ĺThe
insulin infusion can also be lowered to 0.05 U/kg/hr

Aim to keep blood glucose at about 11 mmol/L (200 mg/dL) until

resolution of DKA
ƒ Shift to to oral intake and subcutaneous insulin
9 When DKA has resolved indicated by:
ƒ Bicarbonate >15 mEq/L; pH >7.30
ƒ Sodium stable between 135 and 145 mEq/L
ƒ No emesis
9 Subcutaneous insulin
ƒ Dose: 0.2- 0.4 u/kg every 6-8 hr
ƒ To prevent rebound hyperglycemia the first injection should be
given 30 minutes before stopping the insulin infusion
3. Treat precipitating factors e.g. Antibiotics for infections.
Hazards during treatment of DKA
1. Cerebral edema
Warning clue
Serum sodium should increase by about 1.6 mmol/L for each 100 mg/dL
decline in the glucose; the sodium should steadily increase with therapy.
Declining sodium may indicate excessive free water accumulation and the
risk of cerebral edema
Signs of cerebral edema
R Headache & slowing of heart rate
R Change in neurological status
(restlessness, irritability, increased
drowsiness, incontinence)
R Specific neurological signs (e.g., cranial nerve palsies)
R Rising blood pressure
R Decreased O2 saturation

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Treatment
 Initiate treatment as soon as the condition is suspected.
 Reduce the rate of fluid administration by one-third.
 Give mannitol 0.5–1 g/kg IV over 20 minutes and repeat if there is no
initial response in 30 minutes to 2 hours
 Hypertonic saline (3%), 5–10 mL/kg over 30 minutes, may be an
alternative to mannitol or a second line of therapy if there is no initial
response to mannitol
 Elevate the head of the bed
 Intubation may be necessary for the patient with impending
respiratory failure
1. Hypokalemia.
2. Severe hypophosphatemia
3. Hypoglycemia
Hint: “I myself prefer adopting the British Society of Paediatric Endocrinology
and Diabetes protocol for DKA, 2015. It is very easy and less complicated.
Please google it” Mohamed El Koumi
Mortality rate of DKA: About 0.2% due to:
 Cerebral edema accounts for 60% to 90% of all DKA deaths
 Hypokalemia induced arrhythmias
 Sepsis / aspiration pneumonia
Differential diagnosis: From other causes of coma in diabetic child:
A. Hyperosmolar non ketotic coma (Hyperglycemic hyperosmolar state;HHS)
ƒ Plasma glucose concentration >33.3 mmol/L (600 mg/dL)
ƒ Arterial pH >7.30
ƒ Serum bicarbonate >15 mmol/L
ƒ Small ketonuria, absent to mild ketonemia
ƒ Effective serum osmolality >320 mOsm/kg
ƒ Clinically : Stupor or coma, severe dehydration
B. Hypoglycemic coma
ƒ History :
 Known diabetic with insulin overdose or exercise or delayed meals
ƒ Clinically
 Reactive sympathetic stimulation (ĹFDWHFKRODPLQHVPallor, hunger
pains, tachycardia, sweating, jitterness, tremor, irritability
 Glucopenia of CNS: Lethargy, limpness, may be seizures.
ƒ Blood glucose < 50 mg/dl (< 2.6 m mol /l)
ƒ Rapid response to I.V. glucose

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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B. Post acidotic phase

Regular Insulin Diet
 Dose: 0.2-0.4 u/kg/ 6-8 hrs; SC  Seek dietitian advice
 Given 0.5 -1 hr before meals  Sips of water
 Increase or decrease insulin dose  Skimmed milk
by 10% to keep blood glucose  Dietetic juice
between 100-180 mg/dl  Two days later give average diet
C. Lifelong management
1. Insulin
Starting Doses of Insulin (units/kg/day)
No DKA Post DKA
ƒ Prepubertal 0.25-0.50 0.75-1.0
ƒ Pubertal 0.50-0.75 1.0-1.2
ƒ Postpubertal 0.25-0.50 0.75-1.0
Types
ƒ Short acting
 Regular insulin (Crystalline insulin, Humulin R)
 Ultra short acting: Insulin Aspart ( Novorapid ) / Lispro ( Humalog )
ƒ Intermediate insulin (NPH, insulin Monotard , Humulin N)
ƒ Long acting insulin (Glargine ; Lantus and Detemir)
Regimens
1. Multiple dose injections (recent, very effective):
ƒ Use Glargine or Detemir as basal insulin at bed time
ƒ The basal insulin should be 25-30% of the total dose in toddlers and
40-50% in older children
ƒ The remaining insulin is given as pre meals boluses of ultra-short
acting analogs (usually Novorapid or Humalog) based on carbohydrate
in meals
2. Two injections regimen:
ƒ 2/3 the total daily dose before breakfast
ƒ 1/3 the dose before evening meal
ƒ Each dose contain 1/3 short acting analog & 2/3 NPH
3. Three injection regimen:
ƒ NPH and short acting analog bolus at breakfast
ƒ Short acting analog bolus alone before afternoon snack or the main
evening meal
ƒ NPH at bed time
4. Continuous subcutaneous insulin infusion using automated insulin pump

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Adjustment:
Increase or decrease insulin dose by 10% to keep blood glucose:
 Pre meal 70-145 mg/dl
 Post prandial (1-2 hours) < 180 mg/dl
 Pre bed time 125-180 mg/dl
2. Instructions
ƒ Diet o 3 main meals with 2 snacks (engage a dietician expert in diabetics
diets).
ƒ In infections increase rapid acting insulin by 10%
ƒ Decrease insulin before exercise
3. Monitor
a. Daily blood glucose at least 4 times
ƒ Before breakfast, lunch, supper& at bed time.
ƒ Initially test blood glucose also between 12AM & 3AM.to exclude nocturnal
hypoglycemia
b. Glycosylated hemoglobin (Hb A1C).
ƒ Fraction of hemoglobin to which glucose has been attached.
ƒ Measured as a percent of total hemoglobin.
ƒ Value: Reflect average blood glucose over previous 2-3 months:
 Normal, non-diabetic o < 6%
 American diabetes association recommends:
Hb A1C of <8.5 % in toddlers
Hb A1C of < 8 % in children
Hb A1C of < 7.5 % in teenagers
Honey moon period
* Due to residual E-cell function o release insulin so About 75% of new
diabetics complain recurrent hypoglycemia which may recur for weeks to
months.
* Advice: Never stop insulin but reduce the dose to avoid hypoglycemia.
Somogi phenomenon
* Due to large insulin dose > 2 u/kg/d o Late nocturnal hypoglycemia occur o nn
anti insulin hormones o early morning hyperglycemia.
* Advice: Reduce the evening intermediate insulin by 10%
Dawn phenomenon
* Due to overnight growth hormone secretion o antagonise insulin action o
early morning hyperglycamia.
* Advice: Increase the evening intermediate insulin by 10%

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Polyuria

Definition: Passage of excessive urine output > 2 liters/m2
Causes
Endocrinal Renal Psychogenic
* Diabetes mellitus * Hypokalaemia (<2.5 meq/l). * Compulsory water
* Diabetes inspidus * Renal tubular acidosis ingestion
* Barttar syndrome 
* Hypercalcemia (> 13 mg/dl).
* Chronic renal failure.
Diabetes Insipidus
Definition
Inability to produce concentrated urine due to either
1. Decrease ADH production Ÿ Neurogenic diabetes insipidus.
2. Lack of response of renal tubules to ADH Ÿ nephrogenic diabetes insipidus.
Clinical picture
i- Polyuria = Urine output : 4-10 Liter/day.
- Polydipsia (Irritable infants)
- 2ry nocturnal enuresis.
- If water inaccessible o Dehydration
o Electroyte disturbance.
o Fever (no sweating).
o Shock in severe cases.
ii- Growth retardation
iii- May be features of the cause e.g n ICT in craniopharyngioma
Investigations
1. Urine:
- Specific gravity: 1002-1005 (diluted)
- Osmolality: low (50-200 m.osmol/L)
- No pathological constituents
2. Plasma osmolality: High (> 295 m.osmol /L)
3. Water deprivation test.
4. Vasopression stimulation test
Treatment
i Neurogenic o Desmopressin intranasal twice daily
i Nephrogenic o Adequate hydration.
o Correct hypokalemia by:
- Oral potassium.
- Potassium sparing diuretics.
o Indomethacin .

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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‫‪Neurology‬‬
‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‪.‬‬
‫ﺩﻋﻮﺍﺗﻜﻢ‬ ‫ﺭﻓﻌﻪ ﺩ‪ .‬ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‪.‬‬

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Meningitis
Definition: Inflammation of the membranes covering the brain & spinal cord.
Types: - Bacterial
- Aspetic e.g. viral, fungal
- Tuberculous
Bacterial (Septic) meningitis
Causes
G –ve bacteria G +ve bacteria
Cocci x Nisseria meningitides type x Pneumococci ++ in infants
A, B, C, D, Y, W 135** x Staphylococci & children
x Streptococci
++ in neonates
Bacilli x E.coli x Listeria monocytogenes
x Hemophilus influenza.
N.B. ** Serogroup B is responsible for more than 50% of cases in children less than 1 year and
has also been associated with outbreaks on college campuses
Transmission: - Droplet infection mostly (Blood borne in neonatal sepsis)
Clinical picture
1. Non specific
ƒ High fever (may be hypothermia in neonates).
ƒ Poor feeding
ƒ Rose spots may appear on the trunk & extremities in meningeococcal
septicemia.
2. Features of increased intracranial pressure (ICP)
ƒ Before fontanel closure o tense, bulging anterior fontanel
ƒ After closure of fontanels:
 Severe bursting headache (irritability)
 Blur of vision
 Projectile vomiting (in the morning, not preceded by nausea)
 Cushing response (hypertension & bradycardia)
3. Features of meningeal irritation: (less sensitive in infants)
ƒ Neck rigidity (stiffness) o limited neck flexion
ƒ Opisthotonus o arched back
ƒ Kernig’s sign o inability to extend the leg after the thigh is flexed to a
right angle with the axis of the trunk.
ƒ Brudzinski leg sign: Passive flexion of one hip o flexion of the other hip
and knee
ƒ Brudzinski neck sign: Passive flexion of the neck o flexion of the hip &
knee.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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4. Neurologic signs
ƒ Stupor & drowsiness
ƒ Convulsions o usually generalized
ƒ Coma
Clinical types
1- Meningitic form o the classic presentation as before.
2- Fulminant meningitis.
- Abrupt fever.
- Severe headache and convulsions.
- Rapidly progress to coma.
- Fatal within 48 hrs.
3- Septicemic form (usually complicating meningeococcal form)
- Very bad general condition
- Shock
- Purpura & ecchymosis
- Meningitis develop within 1-2 days (or not at all)
Complications
1- Syndrome of inappropriate secretion of antidiuritic hormone (SIADH) o so,
maintenance fluids must be at 2/3 normal to avoid brain edema.
2- Neurologic complications:
- Increased intracranial pressure (ICP) o May leads to cerebral or
cerebellar herniation
- Subdural effusion
- Cranial nerve lesions (commonly oculomotor, 6th & 8th nerves).
- Hydrocephalus.
3- Peripheral circulatory complications
i- Waterhouse Friedrichson syndrome
- Septicemia
- Shock
- Extensive purpura
- Adrenal hemorrhage
(acute adrenal failure).
ii- DIC: Gangrenous patches & extremities
4- Dissemination of infection: endocarditis, arthritis , osteomyelitis
Investigations
1. CBC o /HXNRF\WRVLVĹĹ301/
2. Blood culture reveals the responsible bacteria in up to 80-90% of cases

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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3. C-reactive protein, ESR, and procalcitonin have been used to differentiate

bacterial (usually elevated) from viral causes of meningitis
4. Lumbar puncture (LP) & CSF examinations:
Value
 Diagnostic (Discover organismĹ301/Ĺ3URWHLQĻ*OXFose)
 Determine appropriate antibiotics by culture & sensitivity.
 Evaluate treatment: CSF become sterile within 24- 48 hours of
appropriate antibiotics
Contraindications for an immediate LP
1. Evidence of increased ICP (other than a bulging fontanel), such as 3rd
or 6th cranial nerve palsy with a depressed level of consciousness, or
hypertension and bradycardia with respiratory abnormalities
2. Severe cardiopulmonary compromise requiring prompt resuscitative
measures for shock
3. Infection of the skin overlying the site of the LP
What to do if an LP is delayed?
 Initiate empirical antibiotic therapy
 CT scanning for evidence of a brain abscess or increased ICP
 LP may be performed after increased ICP has been treated
Condition Appearance Pressure Protein Glucose Leukocytes / ml Organism
(mmH2o) (mg/dl) (mg/dl)
Normal
Clear 50 - 80 5 – 20 40-80 0-5 (monocytes) Nil
CSF
Bacterial Turbid nn nn pp nn (100-60.000) +ve Gram stain*
meningitis (> 100) Mainly PMNLs +ve culture
TB Web nn nn pp n (10-500) Acid fast bacilli
meningitis On stand (> 100) Early PMNLs by zehl nelsen
then lymphocytes stain.
Viral Clear Normal Mild n Normal n (10-500) Viruses may be
meningitis or (< 100) or pp Early PMNLs isolated
slightly n later mononuclear
cells predominate


* Gram stain is positive in 70-90% of patients with untreated bacterial meningitis

N.B: In partially treated meningitis
9 Culture and gram stain are usually negative
9 But Pleocytosis with a predominance of neutrophils, elevated protein level,
and a reduced CSF glucose usually persist for several days

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Differential diagnosis
1- From other causes of meningitis
2- Meningism:
- Noninfectious meningeal irritation due to extra cranial lesions
- Causes: Upper lobe pneumonia, otitis media, shigellosis
- CSF is normal
3- Brain abscess
4- Encephalitis
Management
A. Treatment
1. Antibiotic therapy
ƒ Parenteral antibiotics according to culture and sensitivity for 2- 4 weeks
ƒ Empirical therapy while waiting for culture results:
9 Third-generation cephalosporins (cefotaxime 300mg/kg/day
divided 6 hourly or ceftriaxone 100mg/kg/day)
Plus
9 Vancomycin ௗPJNJௗKUJLYHQHYHU\ௗKU
9 If a patient is immunocompromised and Gram-negative bacterial
meningitis is suspected, initial therapy might include ceftazidime
and an aminoglycoside or meropenem
9 If Listeria monocytogenes infection is suspected, as in young
infants ,give DPSLFLOOLQௗPJNJௗKUJLYHQHYHU\ௗKU

2. Supportive therapy (Nelson 2016)

Measures to p ICP
- Mannitol 0.5 –1gm/kg iv
- Furosemide 1mg/kg iv
Corticosteroids
Indications:
a. H. influenza meningitis:
 Value: Reduce inflammatory response caused by cell lysis
 Use dexamethasone 0.15 mg/kg/dose every 6 hours for 2 days
 Maximum benefit if given 1-ௗKUEHIRUHDQWLELRWLFVDUHLQLWLDWHG
b. Septic shock to improve general condition.
c. Adrenal failure
Treatment of complications e.g. convulsions
- Immediate relief by diazepam or lorazepam
- Then phenytoin loading and maintenance

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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B. Prevention
ƒ Isolation of the case
ƒ Vaccination against H.influenza, meningococci, pneumococci
ƒ Chemoprophylaxis for contacts: e.g. rifampicin 10-20 mg/k/day Ÿ for 2-4
days.
Prognosis Depends on:
1- Age: the younger the age, the worse the prognosis.
2- Course: fulminant meningitis has worse prognosis.
3- Cause: - E.coli & staph on fatality & n long term sequalae.
- H.influenza & pneumococci o moderate prognosis.
- Meningococci o < 5% fatality & no residual disability.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Aseptic meningitis

Meningitis with no micro organisms detected in CSF by gram stain or bacterial

culture.
Causes: - Mostly viral o Herpes simplex virus
o Enteroviruses (Echo & coxachie)
o Mumps
o Ebstein barr virus
- Protozoa o Malaria
o Toxoplasma
- Non infectious o CNS leukemia
o Intrathecal injection
o Post vaccination.
Diagnosis: - CSF analysis
- Viral isolation
Treatment: - Supportive ± antiviral.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Seizures

Definition:
ƒ A seizure is
 Transient , paroxysmal, time limited, involuntary disturbance of brain
function
 Manifested by abnormal motor, sensory, behavioral or autonomic
activities
 With or without impaired consciousness
Causes
A. Acute Seizure
1. Febrile Seizure
2. First epileptic fit.
3. Symptomatic seizures
ƒ CNS causes:
- Infection o meningitis, encephalitis, brain abscess.
- Irritation o brain edema
- Tumors of the brain
- Toxic o tetanus, drug (e.g aminophylline), lead encephalopathy
- Hemorrhage o trauma, hemorrhagic blood diseases.
- Hypoxia o hypoxic ischaemic encephalopathy.
- Hypertensive encephalopathy.
ƒ Metabolic causes:
- Bilirubin encephalopathy
- Uremic encephalopathy
- Hepatic encephalopathy
- Hypo (glycemia, calcemia, magnesemia)
- Hypo or hypernatremia.
- Pyridoxine (B6) deficiency
- Inborn errors of metabolism
B. Recurrent Seizures
1. Epilepsy
2. Symptomatic seizures
ƒ Tetany
ƒ Degenerative brain diseases
ƒ Chronic metabolic causes
- Inborn errors of metabolism
- Hepatic /Uremic encephalopathy

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Febrile Seizures
Definition: Seizures in age vulnerable children due to:
- Rapid rise of body temperature.
- Due to extra cranial causes (mostly viral)
Incidence: - Affect 4% of children.
- Family history in about 20 % of cases (genetic base do exist)
- Recurrent in 30-50% of cases specially in those with family history
Diagnostic criteria
1. Age: 6 - 60 months (convulsions below or above this age is not febrile)
2. Fits occur within 8-12hrs from onset of fever.
3. No evidence of CNS infection (e.g. meningitis), nor metabolic disease
4. Evidence of extra cranial infection (e.g. tonsillitis, otitis media, roseola)
5. Occur in the absence of a history of prior afebrile seizures
6. Type of convulsions:
Simple (Typical) Complex
- Generalized tonic-clonic. - Focal
- Last < 15 min. - Last > 15 min
- One fit only in the same illness. - Recurring within 24 hr
- The commonest form - Uncommon.
Investigations
1. Lumbar puncture to rule out meningitis
Mandatory in
 Infants below 6 months presenting with fever and seizures
 Ill looking children
 Clinical suspicion of meningitis
Optional in
 Children 6-12 months not vaccinated for Haemophilus influenzae type
b & Streptococcus pneumonia or immunization status is unknown
 Children who have been pretreated with antibiotics
2. EEG and Neuro imaging (CT, MRI)
 Only for cases with high risk of epilepsy ; usually not required for 1st
simple febrile seizure
 EEG is done > 2 weeks of the attack
Risk of subsequent epilepsy is higher with:
ƒ Neurodevelopmental abnormalities
ƒ Complex febrile seizures (focal)
ƒ Family history of epilepsy

3. Blood tests e.g. electrolytes, blood glucose if clinically indicated

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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N.B: Major risk factors predicting recurrence of febrile seizures:

 Age <1 yr
 Duration of fever < 24 hr
 Fever 38-39 °C
Differential diagnosis
1. Intracranial infections: Meningitis, meningeo encephalitis, and brain abscess
2. Epileptic fit precipitated by associated fever
3. Epilepsy syndromes typically start with febrile seizures e.g.
ƒ Generalized epilepsy with febrile seizures plus (GEFS+) : multiple
febrile seizures and several types of afebrile generalized seizures
ƒ Severe myoclonic epilepsy of infancy (Dravet syndrome): seizures
starts febrile then become afebrile with evolving developmental delay
Treatment
In general, antiepileptic therapy, continuous or intermittent, is not
recommended for children with one or more simple febrile seizures
1. Acute care of febrile seizure attack:
x Full history and thorough examination
x Fever control by paracetamol and tepid sponges or cold bath.
x Fit lasting more than 5 minuteso Diazepam, lorazepam, or midazolam
x Investigate and treat the underlying cause
x Treatment of febrile status epilepticus
2. Parent education about:
x Acute handling of seizures at home
x Seizures lasting > 5 minutes o rectal diazepam or buccal or intranasal
midazolam
x Fever controlo reduce the discomfort not the seizure recurrence
x During fever o intermittent oral diazepam 0.3 mg/kg q8 hours or
rectal diazepam (0.5 mg/kg as a rectal suppository every 8 hr), reduce,
but do not eliminate, the risks of recurrence of febrile seizures
(Nelson 2016)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Epilepsy
Epilepsy is
ƒ A brain disorder with predisposition to generate seizures with neurobiologic,
cognitive, psychologic, and social consequences of this condition
ƒ It is considered to be present when
 2 or more unprovoked seizures occur in a time frame of longer than 24 hr
Or
 At least 1 unprovoked epileptic seizure with enough EEG and clinical
information to demonstrate recurrences
(Nelson 2016)
Causes
1. Idiopathic (Now termed genetic) in 80% of cases
2. Organic (secondary) in less than 20% of cases
- Congenital cerebral malformation.
- Degenerative brain diseases.
- Post-traumatic, post-hemorrhagic, post-infection, post-toxic, post-anoxic
Classification
A. Focal (partial) seizures
* Only one part of the body is involved i.e. focal.
* Types:
1. Focal seizures without impairment 2. Focal seizures with impairment of
of consciousness (Simple partial seizures) consciousness (Complex partial seizures)
ƒ No aura ƒ Often preceded by aura (e.g. visual
hallucinations)
ƒ Brief ƒ Last 1-2 min
ƒ Motor (focal tonic, clonic or atonic) ƒ Only motor fits
or sensory
ƒ Often there is a motor (Jacksonian)
march from face to arm to leg
ƒ No automatism ƒ Automatism may occur o automatic
ƒ DD: Tics: Unlike tics, motor semi purposeful movements of the
seizures are not under partial mouth (oral, chewing) or of the
voluntary control extremities (manipulating the sheets,
shuffling, walking).
9 Consciousness is intact. 9 Consciousness is impaired with
staring.
ƒ Postictal (Todd's) paralysis or sleepiness last minutes or hours
3. Focal seizures with secondary generalization

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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4. Focal seizures epileptic syndromes:

ƒ Benign childhood epilepsy with centrotemporal spikes (BECTS)
 Starts during childhood (ages 3-10 yr) and is outgrown in adolescence
 The child typically wakes up at night owing to a focal (simple partial)
seizure causing buccal and throat tingling and tonic or clonic
contractions of one side of the face, with drooling and inability to
speak but with preserved consciousness and comprehension
 EEG shows typical broad-based centrotemporal spikes that are
markedly increased in frequency during drowsiness and sleep
 Drug of choice: Carbamazepine, oxcarbazepine
ƒ Landau-Kleffner epileptic aphasia syndrome
 Focal seizures + verbal auditory agnosia and loss of speech
 Drug of choice: Valproate
EEG in focal seizures
9 Shows focal spikes or sharp waves in the lobe where the seizure originates.
9 A sleep-deprived and 24-hour video EEG EEG increase diagnostic yield
B. Generalized seizures: The whole body is affected.
1. Absence seizures(Petit mal)
A. Typical Absence seizures
Incidence: More in girls. Usually start at 5-8 yr of age.
Description:
ƒ Sudden cessation of all motor activities or speech with a blank
facial expression; awareness of surroundings is cut off
ƒ Accompanied by eye lid flutter or upward rolling of the eyes
ƒ Last seconds; after seizure patient resume the pre seizure activity.
ƒ Frequently recurrent; may occur countless daily
ƒ No aura , loss of consciousness nor postictal phase
ƒ EEG o typical 3 Hz spike–and–slow-wave discharges
ƒ Hyperventilation for 3-5 min can precipitate the seizures and the
typical EEG discharges

B. Atypical absence seizures

ƒ Absences associated with myoclonic components and tone changes
of the head (head drop) and body
ƒ Precipitated by drowsiness
ƒ Usually accompanied by 1-2 Hz spike–and–slow-wave discharges

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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2. Generalized motor seizures (Grand mal)

The commonest form; pass in 3 phases.
Aura (pre ictal phase) Attack (ictal phase) Post ictal phase
A warning signs before the  Sudden loss of consciousness  Semiconscious for
attack may exist suggesting  Tonic phase: tonic contraction of 30 min-2hr.
a focal origin of the whole body o rigid posture, apnea,  Headache
epileptiform discharge: cyanosis, rolling of eyes & drolling  Sleepiness
e.g. localized muscle spasm of saliva.
or paraesthesia.  Clonic phase: rhythmic contraction.
& relaxation of all muscles groups o
tongue biting & loss of sphincter
control.
3. Myoclonic epilepsies
ƒ Rapid shock like contractions, usually <50 msec in duration, that may be
isolated or may repeat but usually are not rhythmic
ƒ Intact consciousness.
4. Infantile spasms
ƒ Starts in the 1st year of life
ƒ Brief symmetric tonic contractions of the neck, extremities & trunk which
may be flexor, extensor or mixed
ƒ Repetitive; usually in the morning
ƒ A cry may precede or follow the spasm; so may be confused with colic
ƒ West syndrome: triad of infantile spasms, developmental regression, and
a typical EEG ;hypsarrhythmia (high-voltage, slow, chaotic background
with multifocal spikes)
ƒ EEG o Hypsarrythmias

Normal EEG Hypsarrythmias EEG

5. Atonic or Astatic seizures

ƒ Often follow myoclonic seizures
ƒ Cause a very momentary loss of tone with a sudden fall

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Investigation
For the first unprovoked no febrile seizure
1. EEG (Electro Encephalogram); in awake and sleep state
2. Metabolic screen: Serum Na, Ca, Mg, glucose ± inborn errors of metabolism
3. CSF examination in suspected CNS infections.
4. MRI (preferable) / CT brain for:
 Patients with focal seizures
 Increased intra cranial pressure
 Resistance to treatment
5. ECG to rule out long QT or other cardiac dysrhythmias
6. Genetic diagnosis is now available for a huge number of seizures disorder
Treatment of epilepsy
ƒ When to start anti-epileptic drugs (AEDs)?

Low risk of recurrence High risk of recurrence

Isolated first seizure with: Seizure with:
 Normal neurodevelopmental status  Abnormal neurodevelopmental status
 Normal EEG  Abnormal EEG
 Normal MRI  Abnormal MRI
 Absent family history of epilepsy  Positive family history of epilepsy

9 No long term AEDs 9 Rule out Symptomatic Seizures

9 Close observation 9 Start AEDs even if the first seizure
9 Prescribe rescue medications (rectal
diazepam) for seizures > 5 min

ƒ For symptomatic seizures:

Treat the underlying cause (hypoglycemia, urea cycle abnormality,

meningitis, temporal lobe tumor, etc.)
ƒ Educating the family and the child about
R The disease, and its management
R How to handle seizures acutely and use of rescue medications
R Watch the child during swimming in pools, passing traffic, ….
R Never to stop the AEDs suddenly
R Exercise: can share in hockey, baseball, basketball, and football

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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ƒ Anti-epileptic drugs (AEDs)

How to start?
 Choice should be based on the type of seizure and the epilepsy
syndrome
 Only one drug is used with small dose o if no response o gradually
increase the dose.
 Control with 1 drug (monotherapy) should be the goal
 In resistant cases a 2nd drug can be used alone or in combination.
When to stop?
 Children are free of seizures for at least 2 yr with normal EEG at
discontinuation
 AED therapy should be discontinued gradually, over a period of 3-6 mo
Disorder Drug of first choice
 Focal
 Secondary generalized ƒ Oxcarbazepine, levetiracetam, carbamazepine
seizures
 Absence seizures ƒ Ethosuximide (Zarontin )
ƒ Treatment is guided by EEG
 Both absence & generalized
motor seizures coexist ƒ Valproate /Lamotrigine
 Generalized epilepsies
 Myoclonic epilepsy ƒ Valproate/ Lamotrigine
 Infantile spasms ƒ Adrenocorticotropic hormone (ACTH)
 Suppresses the expression of corticotrophin-
releasing hormone, a proconvulsant
neuropeptide whose expression may be
enhanced in patients with infantile spasms
 Intramuscular or Gel in a tapering doses
 Monitor the patient's response with serial
EEG
ƒ Vigabatrin (Sabril) ; retinal toxicity is a risk
 Migraine and epilepsy Valproate or Topiramate (effective in both)
Other new FDA approved anti-epileptic medications e.g.
 Perampanel (Fycompa)
 Rufinamide (Banzel)
 Clobazam (Onfi)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Na valproate Carbamazepine Levetiracetam Lamotrigine

Dose 20-40 mg/kg/d 10-20 mg/kg/d 20-40 mg/kg/d 1-15 mg/kg/d
Side  Sedation  Sedation  Somnolence  Dizziness
effect  Hepatotoxic  Hepatotoxic  Asthenia  Headache, ataxia
 Alopecia  Anemia  Behavioral  Stevens-Johnson
 Weight gain  Leucopenia disorders syndrome
ƒ Ketogenic diet:
 For infants < 2year with resistant myoclonic epilepsy
 Most calories given form fat (never used with valproate)
Differential diagnosis: from conditions mimic epilepsy
1. Vagal syncope
 Triggered by sight of blood, pain, or sudden stress
 There is initially pallor and sweating followed by blurring of vision,
dizziness, nausea, and then gradual collapse with loss of consciousness
 Rapid recovery with no postictal depression
 If prolonged ; lead to generalized convulsions, termed anoxic seizures
2. Cardiac syncope:
 Long QT syndromes
 Aortic stenosis
Syncope mostly predisposed by Exercise
3. Breath holding attacks
 Episode starts with a cry (often a “silent” cry and marked pallor in the
case of the pallid type), and progresses to apnea and cyanosis.
 Spells usually begin between 6 and 18 mo of age.
 Syncope, tonic posturing, and even reflex anoxic seizures
 Association iron deficiency anemia is common
4. Psychogenic nonepileptic seizures
 Predisposed by stress
 Gradual onset
 Asynchronous flailing limb movements that vary between attacks
 No injury, closed eyelids
 May respond to suggestion during “loss of consciousness”
 Usually >2-3 min

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Status Epilepticus
Definition
ƒ Continuous seizure activity or recurrent seizure activity without regaining of
consciousness lasting for >30 min
ƒ Impending status epilepticus: seizures lasting between 5 and 30 min
Etiology
1. Prolonged febrile seizures (the commonest cause)
2. Sudden withdrawal of anticonvulsants in an epileptic patient
3. CNS anomalies or infections (e.g. encephalitis) or tumors.
4. Metabolic disorders e.g. hypoglycemia, inborn errors of metabolism
Clinical types
ƒ Convulsive status epilepticus (generalized tonic, clonic, or tonic-clonic)
ƒ Nonconvulsive status (complex partial, absence)
ƒ Myoclonic status
Management
A. Initial assessment
ƒ A brief physical examination should assess respiratory and circulatory
status.
ƒ A rapid neurologic examination provides a preliminary classification of the
type of status epilepticus.
ƒ A history from a parent or caregiver for possible cause of the seizures.
B. Initial intervention:
In the first 5 minutes of seizure activity
a) Airway  Maintain airway.
 Suction of secretions
b) Breathing  O2 inhalation
 Assisted ventilation
c) Circulation  Secure an I.V. line
d) Draw Samples for  Electrolytes, Glucose, Calcium and magnesium
 Basic metabolic panel for inborn errors of
metabolism
 Culture blood and CSF
 Toxic screen
 AEDs level in known epileptics
e) Continuous EEG  Helps diagnosis
 Monitor response to treatment
f) Glucose 10% 5ml/Kg For hypoglycemia

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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C. Control convulsions
Emergent therapy (6-15 minutes)
IV line available I.V slow Lorazepam (0.05mg/kg )
May be repeat in 5-10 minutes
or
Diazepam (0.3mg/kg)
May be repeat in 5-10 minutes
or
Midazolam (0.2 mg/kg )
Followed by IV infusion
(With all benzodiazepines ; monitor and manage
respiratory depression)
IV line un available Buccal or intranasal midazolam
or
Intranasal lorazepam
or
Rectal diazepam are effective options
Urgent therapy (16-35 minutes)
x Give immediately Phosphenytion or phenytion
 Loading 15-20 mg/kg under ECG monitor
 Not > 0.5-1 mg/kg/min
 Take peak blood level 2 hr later
 Maintain on 3-6 mg/kg/24 hr
x Phenobarbitone is often the next medication at a loading dose of 5-
10 mg/kg
x IV Valproate (25mg/kg) is emerging as a strong evidence urgent therapy

If seizures controlled Refractory status epilepticus

Use maintenance doses of phenytion ƒ Intubate and assist respiration
and /or phenobarbitone ƒ Drug options:
 Midazolam infusion
 Propfol infusion
 Barbiturate coma
 General anesthesia
ƒ Careful attention to blood pressure
ƒ Monitor response with EEG

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Hydrocephalus
Definition
ƒ Excessive accumulation of CSF with enlargement of cerebral ventricles with
or without increase of the intra cranial pressure; ICP
ƒ Hydrocephalus is not a specific disease; it represents a diverse group of
conditions that result mainly from impaired circulation and/or absorption of
CSF .
Normal CSF circulation:
CSF amount in infant = 50 ml (150 in adult)

1. CSF is formed by active secretion by choroids plexus mainly in the lateral

ventricles
2. CSF passes via foramen of Monro to the 3rd ventricle
4. Then via aqueduct of Sylvius to the 4th ventricle
5. Then via foramena of Lnuscka & Magendi to the subarachnoid space
7. CSF in subarachnoid space is absorbed by arachnoid villi to dural venous
sinuses

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Causes of hydrocephalus
I. Relative hydrocephalus: Normotensive hydrocephalus
- Apparent increase in CSF due to brain atrophy
- Not associated with raised ICP
II. Absolute hydrocephalus
A. Obstructive hydrocephalus
Obstructed CSF flow within the ventricular system (Non-communicating)
1. Obstruction of aqueduct of Silvius:
* Congenital atresia:
- May be sex linked recessive.
- May be associated with spina bifida occulta
* Obstruction from outside by:
- Brain tumors.
- Malformation of vein of Galen (&listen for A cranial bruit).
* Obstruction from inside:
- Post hemorrhagic (especially in premature).
- Post meningitis (T.B., pneumocci, mumps)
2. Congenital atresia of:
* Foramen of Monro.
* Foramina of Luscka & Magendi: Cystic dilatation of 4th ventricle
usually with cerebellar vermis agenesis (Dandy Walker malformation)

3. Arnold Chiari malformation:

Congenital downward displacement of cerebellum, pons & medulla

4. Congenital infection especially toxoplasmosis

5. Brain tumors

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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B. Non obstructive hydrocephalus (Communicating) due to either:

1. Defective CSF absorption
* Subarachnoid space adhesions: - Post hemorrhagic or post meningitic
* Leukemic infiltration.
* Dural sinus thrombosis
2. Excessive CSF secretion (Rare) due to:
- Choroid plexus papilloma
- Choriod plexus congestion as in meningitis
Clinical picture
In infant
1. Head signs
Marked; as the cranial sutures are still opened and yield under rising ICP

ƒ Accelerated rate of enlargement of the head is the most prominent

sign. (increasing head circumference on serial measurements)
ƒ Fontanels are widely opened & bulging.
ƒ Sutures are widely separated.
ƒ Dilated scalp veins.
ƒ Eyes deviated downwards o Sunset appearance
ƒ Skull percussion o Cracked pot sound (Macewen sign).
ƒ Craniotabes in all bones
ƒ A foreshortened occiput suggests Chiari malformation, and a
prominent occiput suggests the Dandy-Walker malformation.
2. Neurologic sings
Mild, as rapid n in skull size protect against marked increase of ICP
ƒ Mild vomiting
ƒ Squint
ƒ Delayed motor milestones
ƒ Pyramidal tract lesion signs are common especially in lower limbs.
ƒ In advanced cases: mental retardation & optic atrophy may occur.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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In older child
Marked neurologic manifestations as the sutures are not easily separated
with subsequent marked increase ICP
-Bursting headache; severe in the morning
-Blur of vision
-Projectile vomiting (unrelated to meals, not preceded by nausea)
-Bradycardia & hypertension (Cushing response)
Diagnosis
A. Confirm hydrocephalus
1. Clinical picture: Progressive head enlargement on serial measurements
2. Cranial X-ray
A. Before closure of sutures and fontanels:

- Wide fontanels, wide separation of sutures.

- Craniofacial disproportion with large cranium.
B. After closure of sutures and fontanels:

- Increased ICP (beaten silver appearance, wide sella)

3. Trans fontanel cranial ultrasound
4. CT & MRI
ƒ Diagnostic; can detect ventricular dilatation.
ƒ Detect degree of cortical atrophy.
ƒ May detect the cause

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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B. Type of hydrocephalus; obstructive or communicating?

1. CT & MRI: The most accurate and non-invasive ¥¥
2. Simultaneous lumbar & ventricular manometry:
- Normally, both are equal
- Ventricular pressure > spinal pressure in obstructive hydrocephalus
3. CSF examination: xanthochromia & cytoalbuminous dissociation in obstructive
type
N.B: Examination of fundus is mandatory for:
ƒ Evidence of chorioretinitis in congenital infections e.g. toxoplasmosis
ƒ Check for papilledema in older child
Treatment
Medical
Decrease CSF by:
 Carbonic anhydrase inhibitors; acetazolamide (Diamox tablets)
 Furosemide
For:
 Moderate or slowly progressive ventricular dilatation
 If response is not stable o proceed to shunt operation
Draw backs:
 Transient effect
 Electrolyte & pH disturbances

Surgical
1. Choroid plexectomy or diathermy for choroid papilloma
2. Extra cranial shunt operation
Types
ƒ Ventriculoperitoneal
ƒ Ventriculo artial (right)
ƒ Ventriculopleural

Complications
ƒ Shunt nephritis (immune complex mediated)
ƒ Obstruction (headache, papilledema, emesis,
mental status changes)
ƒ Infection commonly with staph epidermidis
(fever, headache, meningismus)
ƒ Relative shortening as the child grow

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Differential diagnosis macrocephaly

From causes of macrocephaly (H.C> 2 standard deviation above mean)
Cranial causes
ƒ Constitutional
ƒ Achondroplasia
ƒ Familial
ƒ Anemia (chronic hemolytic)
ƒ Rickets
Intracranial causes
ƒ Hydrocephalus
ƒ Hydrancephaly
ƒ Space occupying lesion e.g. tumor
ƒ Megalencephaly which may be due to:
 Cretinism
 Storage diseases (e.g. mucopolysacharidosis).
 Familial

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Microcephaly
Definition: Head circumference measures > 3 SD below the mean for age and sex
Causes
1- True microcephaly due to small sized brain.
2- Craniosynostosis due to early fusion of sutures.
i. True microcephaly
Criteria
- Skull sutures & fontanelles o normal.
- No increase intra cranial tension.
- Skull X ray show small vault.
- CT scan shows brain atrophy.
Etiology
a. Genetic
- Familial o AR, (severe atrophy of frontal lobes o camel head)
- Chromosomal syndromes e.g. trisomy 21, 18, 13
b. Secondary (Non genetic)
* Prenatal:
- TORCH infection.
- Fetal irradiation; especially in the 2nd trimester.
- Maternal diabetes or phenyle ketonuria.
- Maternal drugs e.g. phenytoin, &alcohol.
* Natal: Hypoxic ischemic encephalopathy.
* Post-natal: Early meningitis& Encephalitis
ii. Craniosynostosis
Definition: early fusion of skull sutures;
1. Palpable ridge is felt at the affected suture.
2. If multiple sutures are affected:
- Microcephaly o brain atrophy.
- Increase intra cranial tension o hydrocephalus& beaten sliver
appearance in skull X ray.
3. Skull examination o abnormal skull shape which may be:
a. Scaphocephaly (Dolicocephaly)
 Elongated due to premature closure of sagittal suture

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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b. Brachycephaly
 Short anteroposterior
 Due to bilateral closure of coronal sutures

c. Oxycephaly
 Conical head
 Due to multiple sutures closure

d. Trigonocephaly
 Triangular
 Due to closure of metopic suture

Treatment
Surgical separation of skull sutures is indicated in:
- Cases with hydrocephalus.
- Cases with progressively increase intra cranial tension.
- Cosmotic reasons.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Cerebral Palsy
(Little’s Disease)
Definition
ƒ A group of permanent disorders of movement and posture causing activity
limitation
ƒ Resulting from non-progressive lesions to the developing fetal or infant brain
ƒ Affecting mainly the motor centers; cerebral cortex , cerebellum , and basal
ganglia
ƒ With frequent neurologic associations including:
 Mental retardation
 Epilepsy
 Impaired hearing ;deafness
 Impaired vision
 Emotional disturbances
 Behavioral disturbances
Causes
ƒ Pre-natal (80%)
 Antenatal Infections
 Congenital malformations
 Fetal asphyxia
ƒ Natal (10%)
 Birth asphyxia
 Birth trauma
ƒ Post-natal (10%)
 VLBW with intracranial hemorrhage
 Meningitis, encephalitis
 Metabolic e.g. phenyle ketonuria
 Hypoglycemia
 Hyper bilirubinemia
 Hydrocephalus.
Topographic classification: (distribution of motor defect)
1- Monoplegia o Only one limb is affected
2- Hemiplegia o Upper and lower limbs on one side are affected
3- Diplegia o All limbs are affected, the lower more affected than the
upper limbs
4- Paraplagia o Only both lower limbs are affected
5- Quadriplegia o All the four limbs are affected

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Clinical Types
1. Spastic cerebral palsy
Criteria
ƒ The commonest type
ƒ Pyramidal tract lesion (UMNL) signs:
 Hypertonia
 Hyper reflexia
 Positive Babinski sign
 May be clonus
ƒ Persistence of primitive reflexes
ƒ Pesudobulbar palsy o feeding disorder (poor suckling & swallowing),
squint and speech disorders.
Types
1. Spastic diplegia: 35%
ƒ Bilateral spasticity of the legs that is greater than in the arms
ƒ More in premature with periventricular leucomalacia
 Crawling is commando like rather than four limbed crawling.
 Lower limbs scissoring (application of a diaper is difficult)
 With paraspinal muscle involvement, the child may be unable to sit.
ƒ MRI typically shows scarring and shrinkage in the periventricular
white matter with compensatory enlargement of the cerebral
ventricles
2. Spastic hemiplegia: 25%
ƒ Due to in utero or neonatal stroke
 Decreased spontaneous movements on the affected side
 Shows hand preference at a very early age
 Walking is delayed until 18-24 mo (tiptoe walking); gait is
circumdactive
 Examination of the extremities may show growth arrest,
particularly in the hand and thumbnail
 Upper extremity assumes a flexed posture when the child runs
3. Spastic quadriplegia: 20%
ƒ More ischemia and infection
ƒ The most severe type
ƒ Marked motor impairment of all extremities and the high association
with mental retardation and seizures
4. Spastic monoplegia
5. Spastic paraplegia

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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2. Ataxic cerebral palsy

Criteria
 Hypotonia and hyporeflexia
 Cerebellar ataxiao incoordination of voluntary movements, nystagmus,
staccato speech, intention tremors.
3. Extrapyramidal (dyskinetic, asthetoid) cerebral palsy
Commonest causes
 Asphyxia, kernictrus
Criteria
 Hypotonia (replaced with time with hypertonia & rigidity)
 Chorio asthetoid movements.
 Deafness.
3. Atonic cerebral palsy
 Profound hypotonia o floppy infant
 Preserved deep tendon reflexes
5. Mixed cerebral palsy
Diagnosis
1. Clinical: A thorough history and physical examination should rule out a
progressive disorder of the CNS, including degenerative diseases,
metabolic disorders, spinal cord tumor, or muscular dystrophy
2. Investigations:
Value: Exclude progressive brain insults and may detect a cause or association
a. CT & MRI
 May detect the cause e.g. brain malformations and spinal cord lesions
 Rule out brain tumors & degenerative brain disease.
 CT scan may be useful for detecting calcifications associated with
congenital infections
b. TORCH screen.
c. Genetic evaluation
d. Metabolic screen.
e. For associations: Test for Hearing, Visual function , EEG for seizures

N.B Conditions that can mimic cerebral palsy

• Spinal cord tumors
• Channelopathies
• Sandifer syndrome
• MECP2 duplication
• Congenital dopa-responsive disorders
• Genetic spastic paraplegia
• Some metabolic conditions (GLUT1 deficiency, glutaric aciduria type 1)
• Ataxia telangiectasia

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Treatment
ƒ Multidisciplinary approach is most helpful in the assessment and treatment
of such children; A team of physicians from various specialties as:
 Occupational and physical therapists
 Speech pathologists
 Social workers
 Educators
 Developmental psychologists
ƒ Assist:
 Feeding & defecation
 Vision and hearing
 Walking: Walkers, standing frames, motorized wheel chair
 Communication by talking typewriters and special computers
 Rehabilitation according to the degree of motor disability
ƒ Medications
Anti spastic drugs
drug Action Side effect
Diazepam  GABA agonist  Sedation
 Useful in short term relief of painful  Dependency with long
spasms term use
Baclofen  GABA agonist and inhibit spinal  Sedation
neuronal transmission
 When used intrathecally, via a surgically
implanted continuous-GHOLYHU\SXPSĺ
greater efficacy with fewer adverse
effects
Tizanidine  Alpha-2 adrenergic receptor agonist and  Sedation
inhibit spinal neuronal transmission
 Useful in severely disabled by cerebral
palsy and in those with night-time
spasms
Dantrolene  Block calcium intake by skeletal  Hepatic dysfunction
musclesĺ Ļ free intracellular calcium  Blood dyscrasia
Botox A: injection in spastic muscles and salivary glands to reduce
drooling. It stops the release of acetylcholine at the synapse and blocks
neurotransmission. The effects gradually wear off (over about 3–6 months)
Levodopa: Small doses may be helpful for dystonia and rigidity
ƒ Surgery:
For marked spasticity of the lower H[WUHPLWLHVĺsurgical soft tissue
procedures that reduce muscle spasm e.g. adductor tenotomy or psoas
transfer and rhizotomy (roots of the spinal nerves are divided)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Mental Retardation
Definition: Handicapping disorder with age of onset below 18 years characterized
By subnormal I.Q. (< 70%).
Mental age
I.Q. (Intelligence Quotient) = u100
Chronological age
Diagnostic criteria
1- Subnormal intelligence quotient “IQ” (less than or equal to 70%)
2- Limitations exist in two or more of the adaptive skills e.g.
communications, social skills, self care, safety, functional academics, work
3- Manifest before age of 18 years (if after 18 years, it is called dementia.)
Etiology
1.Physiologic (sub cultural)
x No demonstrable organic brain lesions
x Seen in children living in low socio economic standard with neglect
and poverty
2.Genetic causes
x Chromosomal anomalies; e.g. Trisomy 21,18,13, klinefelter syndrome
x Genetic disorders e.g. Fragile-X syndrome , prader willi syndrome
x Developmental brain abnormalities e.g. hydrocephalus and familial
microcephaly
x Degenerative brain diseases e.g. lipidosis and mucoploysacridosis
x Inborn errors of metabolism
2.Non genetic
x Cerebral palsy causes (Mention)
x Congenital hypothyroidism
x Severe hypernatremia or recurrent hypoglycemia
Presentations
Age Manifestation
Infancy  Delayed social development oFail to interact with
environment
 Gross motor delay
Early  Language delay /difficulties
childhood  Behavior difficulties
 Delayed fine motor
Late childhood  Academic under achievement
Prevention
ƒ Proper prenatal, natal and post-natal care
ƒ Vaccination against rubella for females (not during pregnancy)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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ƒ Neonatal screening to identify preventable causes of MR (e.g.

phenylketonuria).
ƒ Treatment of neonatal jaundice, hypoglycemia, hypothyroidism ….
Evaluation:
1. Neuro imaging o CT , MRI
2. T4 ,TSH
3. Karyotyping
4. Fragile X screen
5. Metabolic o e.g. plasma amino acids , urine organic acids , …
Treatment
Only rehabilitation of the child depending on the degree of mental retardation:
ƒ Mild (IQ 50-70) o educable (may need special classes)
ƒ Moderate (IQ 35-50) o trainable (they are trained to care for themselves)
ƒ Severe (IQ 20-35) o r trainable.
ƒ Profound (IQ 0-20) o non trainable (so, they need full time nursing care).

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Acute post infectious polyneuropathy

(Gillian Barre syndrome)
Etiology
ƒ Auto immune, often postinfectious polyneuropathy involving mainly motor
but also sensory and sometimes autonomic nerves
ƒ Paralysis usually follows a nonspecific gastrointestinal (especially
Campylobacter jejuni, or Helicobacter pylori) or respiratory infection
(especially Mycoplasma pneumonia) or viral infections.
Clinical picture
1. Motor : Acute ascending flaccid paralysis:
Criteria:
 Bilateral & symmetric usually (asymmetric in 9%)
 Associated hyptonia & hyporeflexia.
Progress:
 Lower Limb (inability or refusal to walk)o trunk o upper limb.
 Bulbar palsy (in 50%) o dysphonia, dysphagia & lost bulbar reflexes.
 Respiratory muscles o respiratory failure.
9 Miller-Fisher syndrome consists of acute external ophthalmoplegia,
ataxia, and areflexia
2. Sensory
 Mild
 Tender calf
3. Autonomic
 Labile blood pressure & heart rate
 Urinary incontinence or retention of urine in about 20%
Diagnosis
9 CSF: Cyto albuminous dissociation :
 High CSF protein > twice the upper limit of normal and a lack of
cellular response < 10 white blood cells/mm3
 Negative bacterial culture
9 MRI of the spinal cord
 Thickening of the cauda equina and intrathecal nerve roots in >90% of
patients
 Rule out other spinal disorders
ƒ Motor nerve conduction velocity are greatly reduced
ƒ Electromyography shows evidence of acute denervation of muscle.
ƒ Serum creatine kinase (CK) level may be mildly elevated or normal

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 354
2 Illustrated Baby Nelson

Treatment
Patients in early stages of this acute disease should be admitted to the
hospital for observation because the ascending paralysis can rapidly
involve respiratory muscles during the next 24 hr
i. Supportive:
 Respiratory effort monitoring (spirometry) and support
 Cardiac monitoring
 Nasogastric feeding
 Care of bladder (catheterization & neostigmine).
 Physiotherapy
ii. Specific
ƒ IVIG: A commonly recommended protocol is IVIG 0.4 g/kg/day
for 5 consecutive days, but some studies suggest that larger doses
are more effective (1 g/kg/day for 2 consecutive days)
ƒ Alternatives: if IVIG is ineffective
 Plasmapharesis is equally effective as IVIG.
 Combined IVIG and interferon is effective in some patients
 Steroids are not effective
Differential diagnosis: Other causes of acute flaccid paralysis
Prognosis
x The clinical course is usually benign, and spontaneous recovery begins
within 2-3 wk.
x Most patients regain full muscular strength, although some are left with
residual weakness.
x Improvement usually follows a gradient opposite the direction of
involvement: bulbar function recovering first, and lower extremity
weakness resolving last.
Differential diagnosis : Acute Flaccid Paralysis
A. Acute asymmetrical paralysis
- Cerebrovascular stroke e.g. acute hemiplegia
- Poliomyelitis
- Pseudo paralysis e.g. with osteomyelitis, trauma, scurvy
B. Acute symmetrical paralysis
* Spinal cord: Trauma, Compression by abscess or tumors, Transverse myelitis
* Infections: Botulism, Diphtheria, Rabies
* Post infections: Gillian Barre syndrome, Enterovirus Associated Post Infectious
Myelitis (Recently discovered in USA)
* Tick-bite paralysis
* Myasthenia gravis
* Hypokalemic periodic paralysis

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 355
3 Illustrated Baby Nelson

Inability To Walk
Normal walking require integration between CNS, muscles, skeleton and training
Causes of delayed walking
A. Central causes:
1-Brain - Cerebral palsy
- Mental retardation
- Hydrocephalus
- Congenital malformations
- Brain damage with tumors or infections
2- Spinal cord - Congenitalo Spina bifida.
- Traumatico Spinal cord trauma.
- Inflammatoryo Pott’s disease of the spine.
- Neoplastico Spinal cord tumors.
3- Anterior horn cells - Poliomyelitis.
- Spinal muscle atrophy.(Werding Hoffman disease)
4- Peripheral Nerve - Guillian - Barre syndrome..
- Polyneuritis (Diphtheria, Drugs)
5- Neuro muscular junction - Mysthenia gravis.
- Botulism
- Organophosphorus poisoning.
B. Muscular causes:
* Primary muscle disorders: Myopathies, Myositis and Metabolic.
* Secondary muscle disorders: Rickets and malnutrition.
C. Skeletal: (Bones, Joints)
- Rickets
- Inflammation (arthritis, osteomyelitis)
- Lower limb trauma
Differential diagnosis of inability to walk:
Causes Primary Secondary
( The child has not walked before) ( The child has walked before)
a.Paralytic - Early poliomyelitis. - Poliomyelitis.
- Early paralysis before walking. - Post diphtheric paralysis
- Cerebral palsy - Post encephalitic paralysis
- Cerebro-vascular accidents
b.Non paralytic - Rickets - Rickets.
- Mental retardation - Malnutrition.
- Simple delayed walking - Fractures or osteomyelitis

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
 ‫‪Notes‬‬

‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‪.‬‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ ‫ﺭﻓﻌﻪ ﺩ‪ .‬ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‪.‬‬

‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‪14‬‬
 ‫‪Notes‬‬

‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‪.‬‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ ‫ﺭﻓﻌﻪ ﺩ‪ .‬ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‪.‬‬

‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‪14‬‬
 ‫‪Notes‬‬

‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‪.‬‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ ‫ﺭﻓﻌﻪ ﺩ‪ .‬ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‪.‬‬

‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‪14‬‬
 ‫‪Notes‬‬

‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‪.‬‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ ‫ﺭﻓﻌﻪ ﺩ‪ .‬ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‪.‬‬

‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‪14‬‬
 ‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‪.‬‬
‫ﺩﻋﻮﺍﺗﻜﻢ‬ ‫ﺭﻓﻌﻪ ﺩ‪ .‬ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‪.‬‬

‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‪14‬‬
 ‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‪.‬‬
‫ﺩﻋﻮﺍﺗﻜﻢ‬ ‫ﺭﻓﻌﻪ ﺩ‪ .‬ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‪.‬‬

‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‪14‬‬
 Illustrated Baby Nelson
General Pediatrics

By

Dr Mohamed El Koumi
Consultant Pediatrics and Pediatric Nephrology
MD Pediatrics
Membership of Royal College of Pediatrics and Child Health
(MRCPCH; UK), (FRCPCH, UK)
IPNA Senior Clinical Fellow Pediatric Nephrology, Queen Elizabeth
Hospital, Glasgow, Scotland (UK)
Assistant professor of pediatrics


&RQWULEXWRUV
Dr Ayman Azab
Professor of pediatrics and neonatology, National Research Center
Consultant neonatologist, Adan hospital, Kuwait

Dr Osama Taha Amer

Professor of pediatrics, Zagazig University
Consultant pediatric pulmonologist

‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬
Dr Laila Sherief ‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬
Professor of pediatrics, Zagazig University
Consultant pediatric hematology and oncology
‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬
‫ﺩﻋﻮﺍﺗﻜﻢ‬ ‫ﺭﻓﻌﻪ ﺩ‪ .‬ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‪.‬‬
 Dedication
To all who inspired me
My mother and father
My wife and kids
To the souls of My father in law; Dr Ahmed Hamdi Elwelili and my mother in
law
And To my professors:
Dr Mohamed Hamza Sayed Al Ahl
Dr Aly Mohamed Abu Zeid
Dr Mostafa fathy
And the souls of my friends; Dr Wael Assal and Dr Osama Al Sayed

For all I must say: Thank You

Mohamed El Koumi
‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬
‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬
October 6 city
7th of March 2017
‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬
‫ﺩﻋﻮﺍﺗﻜﻢ‬ ‫ﺭﻓﻌﻪ ﺩ‪ .‬ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‪.‬‬
 Contents

Chapter Page

Growth and development 1-12

Infant feeding 13-30

Nutritional disorders 31-67

Genetics 68-88

Diarrheal disorders 89-107

Infections 108-147

Vaccines 148-153

Neonatology 154-254

Life support 255-264

Case Answers 265-275

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
 ‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‪.‬‬
‫ﺩﻋﻮﺍﺗﻜﻢ‬ ‫ﺭﻓﻌﻪ ﺩ‪ .‬ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‪.‬‬

‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‪14‬‬
 ‫‪Growth and‬‬
‫‪development‬‬

‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‪.‬‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ ‫ﺭﻓﻌﻪ ﺩ‪ .‬ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‪.‬‬

‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‪14‬‬
 ‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‪.‬‬
‫ﺩﻋﻮﺍﺗﻜﻢ‬ ‫ﺭﻓﻌﻪ ﺩ‪ .‬ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‪.‬‬

‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‪14‬‬
Page | 1 Illustrated Baby Nelson

Factors affecting growth

1. Prenatal factors
o Familial (genetic);children inherit their height pattern from their parents
o Racial; some races are shorter than others e.g. Chinese
o Constitutional
2. Factors operating during pregnancy (In Utero Exposures)
o Maternal diseases e.g. diabetes mellitus, hypertension
o Maternal exposures: Teratogens, infections e.g. TORCH, irradiations…
o Maternal nutritional state.
3. After birth
a. Age: Growth rate is more during infancy and adolescence.
b. Sex:
- Growth rate is nearly equal in males & females from birth till 11 years
- Girls grow faster between 11 – 14 years (due to earlier puberty)
- Boys grow faster than girls beyond 14 years (due to later puberty)
c. Nutritional status o Chronic under nutrition & malnutrition retard growth
d. Psychological and socioeconomic status
e. Health status o chronic diseases retard growth
4. Hormonal role: growth is controlled by hormones depending on the stage
Intrauterine Infancy & childhood Adolescence
1. Chorionic gonadotropines 1. Thyroxin Sex hormones
2. Placental lactogen 2. Growth hormone (Estrogen & androgen)
3. Insulin are responsible for
4. Thyroxin (skeletal growth) growth spurt during
puberty

So
o Newborn of diabetic mother whose mother has hyperglycemia during
pregnancy commonly have hyperinsulinemia and eventual macrosomia at
birth
o Newborn with congenital hypothyroidism usually has delayed bone age
screened for by plain radiograph on his knee that shows absent tibial and
femoral epiphyseal centers that normally present at birth
o Newborn with growth hormone deficiency usually has normal size at birth
simply because growth hormone actions operate after birth onwards

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 2 Illustrated Baby Nelson

I. Anthropometric measures
1. Weight
* At birth o 3 - 3.5 kg
st
* During the 1 year:
- 1st 4 months o Weight n by ¾ kg per month.
So, weight at 4 months = 6 kg Ÿ double birth weight
- Next 4 months o Weight n by ½ kg per month
- Last 4 months o Weight n by ¼ kg per month.
So, weight at 1 year = 9 kg Ÿ triple birth weight
st
* Beyond the 1 year o Weight is calculated as: weight = age (in years) × 2 + 8
Physiologic weight loss:
* Initial weight loss usually occur during the first 3-4 days of life
* The baby loses about 10% of his birth weight due to:
- Scanty milk flow
- Poor suckling capacity
- Passage of meconium & urine
* This weight loss is usually regained by the 10th day of life

2. Length/Height
* At birth o 50 cm
* At 6 months o 68 cm
* At 1 year o 75 cm
* At 2 years o 87.5 cm
* After the 2nd year o Height = age in years × 5 + 80

How to measure?
o Under 2 years: Length is measured in supine position
o Over 2 years: Height is measured in standing position
3. Occipto Frontal head circumference (OFC)
Clinical value
- OFC reflects the rate of brain growth.
- Maximum rate of brain growth & OFC is during the 1st year
* At birth o 35 cm.
* At 6 month o 43 cm
* At 1 year o 45 cm
* At 12 years o 55 cm

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 3 Illustrated Baby Nelson

4. OFC & chest circumference (CC) ratio

Chest circumference is measured at level of xiphiod process in mid inspiration
Age OFC/CC ratio
* At birth >1
* At 6 months Equal 1
* at 1 year <1
th
* At 5 year <1
Clinical value: Suspect malnutrition if OFC/C.C > 1 beyond 6 months

5. Mid arm circumference (MAC)

* In a baby 1- 4 years o MAC is > 14 cm
* In border line malnutrition o MAC is 12 – 14 cm
* In severe malnutrition o MAC is < 12.5 cm
Clinical value
o Early indicator of malnutrition; and is not affected by edema.
o Often used for screening for malnutrition in lieu of weight for height
o MUAC divided by OFC classifies malnutrition into; Mild < 0.31 , moderate
<0.28 , and severe < 0.25 ( Kanawati classification of malnutrition)
6. Skin fold thickness
Clinical value: Estimate total body fat;
* Measured by skin fold calipers
* Measured at left triceps or left subscapular regions
* Normal values: - 10 mm at 1 year
- 14 mm at 1- 4 years
8. The Arm span - Height relationship
* Span is shorter than height by 3 cm at 1-7 years.
* Span equals height at 8-12 years.

7. Proportions of upper segment & lower segment

* Upper segment (US) is measured from crown to symphysis pubis.
* Lower segment (LS) is measured from symphysis pubis to the floor.
* Proportions of US/LS:
o At birth o 1.7 /1
o At 3 years o 1.3 /1
o After 7 years o 1 /1
Clinical value: Help evaluation of short stature

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 4 Illustrated Baby Nelson

II. Teething
Primary = Deciduous or Milky teeth Secondary (permanent) Teeth
Tooth Age (months) Tooth Age (years)
- Central incisor 6 - 9 - Central incisor 7
- Lateral incisor 9 - 12 - Lateral incisor 8
st
- 1 molar 12- 18 - Canine 10
st
- Canine 18- 24 - 1 premolar 11
nd nd
- 2 molar 24 - 2 premolar 12
st
- 1 molar 6
nd
- 2 molar 13
- Wisdom tooth 22
* Count : 20 teeth * Count : 32 teeth
* Teething starts at 6- 9 months and * Teething start at the 6th years and
completed at 24 months. completed at 22nd years
* The lower jaw incisors precedes the * Eruption follow exfoliation immediate or
upper jaw by one month may lag 4-5 months
Teething Eruption Abnormalities
1. Delayed teething: No eruption beyond 13 months of age.
Causes :
a. Idiopathic : the commonest cause
b. Local: e.g. supernumerary tooth, cysts, rigid gums
c. Generalized: (DACRO H2); Down syndrome, Achondroplasia, Congenital
hypothyroidism, Rickets, Osteogenesis imperfecta,
Hypopituitarism, Hypoparathyriodism
2. Premature teething is seen is:
x Natal teeth (should be extracted to avoid aspiration).
x Congenital syphilis
x Ellis Van Creveld syndrome:
- Disproportionate dwarfism (short stature with short limbs)
- Post axial polydactyly
- Ectodermal dysplasia(teeth and nail)
- Congenital heart disease (ASD)
- Narrow chest
3. Congenital missing or extra tooth

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 5 Illustrated Baby Nelson

III. Fontanels
Posterior fontanel
– Normally: Closed at birth or opened < 0.5 cm and closes within 2 months
– Abnormally: Opened > 1 cm or Not closed within 4 months
Causes :
- Prematurity
- Increased intra cranial tension
- Mongolism
- Cretinism
Anterior fontanel: Clinical value
1. Assessment of growth
- At birth o 3 fingers (| 3- 4 cm).
- At 6 months o 2 fingers.
- At 12 months o 1 finger.
- At 18 months o closed.
2. Size
A- Large fontanel (delayed closure) in: (DACRO HI)
- Down syndrome
- Achondroplasia
- Congenital hypothyriodism
- Rickets
- Osteogenesis imperfecta
- Hypopituitarism
- Increased intra cranial tension
B- Small fontanel (premature closure; before 6 months) in: (2 C)
- Craniosynostosis
- Congenital hyperthyroidism
3. Surface : Normally it is smooth & continuous with the skull bones.
A- Bulging: with Ĺ intra cranial tension e.g. B- Depressed : in dehydration
- Intra cranial infections
- Hydrocephalus
- Intra cranial hemorrhage

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 6 Illustrated Baby Nelson

IV. Osseous Growth

Normally; there are 5 secondary ossific centers at birth in
o Lower end of femur.
o Upper end of tibia.
o Calcaneus, talus & cuboid
“X ray knee in newborn help assess intrauterine
skeletal maturation ; it is a good screening
tool for congenital hypothyroidism”
Carpal bones start ossification after birth as follow
o The 1st carpal bone o ossifies at about 2nd month of age.
o The 2nd carpal bone o ossifies by the end of the first year.
o Later on, one carpal bone ossifies approximately each year till the 6th year;
the 8th bone usually ossifies at the 12th year of age.
Bone age
x Bone age is a measure of the degree of skeletal maturity of a child
x It is measured in years by the radiographic examination of ossification
centers; most often using the Greulich-Pyle bone age scale
- At > 6 month onwards o by x-ray over the left wrist
- In late childhood o by assessing fusion of epiphysis
Causes of Delayed Bone Age Causes of Advanced Bone Age
1- Hypothyroidism 1- Hyperthyriodism
2- Hypopituitarism 2- Hyper pituitarism
3- Delayed puberty. 3- Androgen excess (e.g. congenital
4- Cushing syndrome adrenal hyperplasia)
5- Chronic illness / under nutrition 4- Simple obesity.
Example for bone age estimation by Greulich-Pyle bone age scale

Average bone age 1 year Average bone age 2 years Average bone age 3 years

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 7 Illustrated Baby Nelson

V. Growth Charts (Curves)

Values
1- Assess growth and normal growth variations among children
2- Early predictor of malnutrition (flattening of weight curve)
3- Monitor success of treatment of malnutrition
Examples
1. Percentile growth curves
Each chart is composed of 7 curves
- 97th percentile o Highest normal.
- 90th percentile o High normal.
- 75th percentile o Above average.
- 50th percentile o Average.
- 25th percentile o Below average.
- 10th percentile o Low normal.
- 3rd percentile o Lowest normal.
Normal child on percentile curves
o Should lie between the 3rd & 97th percentile curves. So, values < 3rd or
above 97th are abnormal.
o On serial measurement deviation of the child from his own percentile
curve is abnormal.
o Not all the child growth parameters necessarily fall into the same
percentile.
2. Growth velocity curves
Rate of growth is maximal in infancy and during pubertal spurt
N.B
x Weight for height below the 5th percentile remains the single best growth
chart indicator of acute under nutrition
x Decreased height for age with normal weight for age indicate nutritional
disorder in the past
x Decreased both weight for height with normal height for age indicate both
recent and past nutritional disorder
x Specialized charts have been developed for children with :
o Very low birth weight and prematurity
o Down
o Turner
o Klinefelter syndromes
o Achondroplasia

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
‫‪Page | 8‬‬ ‫‪Illustrated Baby Nelson‬‬

‫‪Examples of centile charts‬‬

‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‪.‬‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ ‫ﺭﻓﻌﻪ ﺩ‪ .‬ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‪.‬‬

‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‪14‬‬
‫‪Page | 9‬‬ ‫‪Illustrated Baby Nelson‬‬

‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‪.‬‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ ‫ﺭﻓﻌﻪ ﺩ‪ .‬ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‪.‬‬

‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‪14‬‬
Page | 10 Illustrated Baby Nelson

Assessment Of Development
Motor Milestones : (Locomotor development)

Head support ; no head lag Sit without support Crawls

3 months 6 months 9 months

Stands Walks Runs

10 months 12 months 18 months

Climbs stairs Rides a tricycle Dresses himself

2 years 3 years
Mental milestones
A. Social development

Social smile on x Recognizes mother x Recognizes father x Finger feeds

social contact x Excited at sight of food x Stranger awareness x Waves bye bye
2 months 4 months 9 months 12 months

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 11 Illustrated Baby Nelson

B. Fine motor

x Play with hands in midline x Outreaches objects, x Pincer grip

x Grasp offered rattle mouth it and transfers it
4 months 6 months 9 months

x Tower of two cubes

x Casting x Scribbles x Turn pages in 2-3 pages
12 months 15 months 18 months

x Cut with scissors x Copies a cross & square x Copies a triangle

x Copies a circle x Recognize 3 colors x Draws man with six parts
3 years 4 years 5 years
C. Speech development
At - 10 months o Says Mama or Dada
- 1 year o Speaks first real 3 words
- 19 months o Speaks 2-word sentences (e.g., “Mommy shoe”)
- 2 years o Says 3 word sentences (phrases).
- 3 years o Says his name & age
- 5 years o Says clear speech
Criteria of speech delay
- No first words by 15 months.
- No real words by 18 months.
- No word combinations by 2 yrs
- Speech is difficult for others to understand at 3 years
D. School achievement

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 12 Illustrated Baby Nelson

Self Assessment Clinical Cases

Case 1
A 3-month-old girl, comes in for her checkup with her mother .her mother complains that
her baby is not active, sleeps much and cries little with persistence of the yellow tinge of
skin and sclera since the first week of life. You requested a plain radiograph for her knees
a. What does the x ray show?
b. What is the expected diagnosis?
c. What do you expect from examining her fontanels?

Case 2
Bone age will be advanced in short stature caused by which of the following?
a. Environmental deprivation syndrome
b. Hypopituitarism
c. Hypothyroidism
d. Congenital adrenal hyperplasia
e. Chronic administration of glucocorticoids in high doses

Case 3
An infant can lift his head from a prone position 45° off the examining table,
smiles when encouraged, and makes cooing sounds. He cannot maintain a
seated position. The most likely age of the infant is
a. 1 month
b. 3 months
c. 6 months
d. 9 months
e. 12 months

Case 4
A child is brought to your clinic for a routine examine. She can dress
with help, can ride a tricycle, knows her own age, and can speak in short
sentences. She had difficulty in copying a square. The age of this child is
most likely
a. 1 year
b. 2 years
c. 3 years
d. 4 years
e. 5 years
(Source: Pretest Pediatrics for USMLE )

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
‫‪Infant feeding‬‬

‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‪.‬‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ ‫ﺭﻓﻌﻪ ﺩ‪ .‬ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‪.‬‬

‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‪14‬‬
 ‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‪.‬‬
‫ﺩﻋﻮﺍﺗﻜﻢ‬ ‫ﺭﻓﻌﻪ ﺩ‪ .‬ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‪.‬‬

‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‪14‬‬
Page | 13 Illustrated Baby Nelson

Breast Feeding

Control of milk production

1. Maternal Reflexes

1. Prolactin (Production) reflex 2. Milk ejection (let down) reflex

   
Suckling of nipple Suckling of nipple
p p
+ + vagus nerve + + vagus nerve
p p
+ + hypothalamus + + hypothalamus
p p
+ + anterior prtuitary + + posterior pituitary
p p
nn prolactin nn oxytocin
p p
+ + milk secretion + + milk ejection.

2. Infant Reflexes
o Rooting reflex: Infant turns his head to the side where the nipple is felt
o Suckling reflex: Rhythmic movements of the mandible
o Swallowing reflex (Coordinated suckling and swallowing occurs in
babies born after 34 completed weeks)
N.B: Maternal anxiety, stress and fatigue inhibits ejection reflex

Breast milk flow is maintained by

1. Mechanical factors: The main stimulus for breast milk flow .It is achieved by:
- Suckling: the more regular & vigorous suckling, the more the milk flow.
- Suckling initiate prolactin and milk ejection reflexes
2. Good maternal nutrition with plenty of:
- Sugary fluids (not evidence based)
- Vitamins B complex
3. Good maternal psychology (maternal anxiety & stress inhibits ejection reflex)
4. Hormonal balance
5. Rooming in (keeping the baby in mothers room) and skin to skin contact.
6. Demand feeding (feeding according to the infant desire)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 14 Illustrated Baby Nelson

Disadvantages of breast milk

1- Breast milk protein Allergy o very rare condition

2- Breast milk jaundice may occur due to pregnandiol secreted in breast milk.
3- Deficient Content of:
* Vitamin K; to avoid bleeding tendency, 1 mg Vit. K is given IM at birth
* Vitamin D and Iron:
American Academy of Pediatrics recommends supplementation with:
 Begin daily oral vitamin D drops (400 IU) at hospital discharge
- Iron (1-2 mg/kg/d) starting at age 4–6 months until age 1 year
4- Some Drugs are secreted in breast milk e.g. cytotoxics and antithyriod drugs
5- Some viruses are Excreted in breast milk e.g. CMV and HIV

Breast Milk Composition

— Colostrum o milk from birth to the 5th day of life
— Transient milk o milk from the 5th day to 21st day
— Mature milk o milk after the 21st day.
Colostrum Mature milk
Amount 40-60 ml 1 liter
Reaction Slightly alkaline Neutral
Color Lemon yellow Whitish
Consistency Thick Thin
Caloric value 57 cal/dl 67 cal/dl
Specific gravity 1040 – 1060 1030 – 1035
Protein 7 gm% 1.2 gm%
Fat 3 gm% 4 gm%
Carbohydrates 4 gm% 7 gm %
Colostrum corpuscles Normally present Absent ( if exist, it
(Large endothelial cells from denotes deteriorating
breast acini or fat laden breast milk secretion)
leucocytes)
Value 1. Nutritive ( n protein) See later
2. Protective o nn Ig A &
n PMNLs & monocytes
3. Initiate gastrocolic reflex
o mild laxative

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 15 Illustrated Baby Nelson

Advantages of Breast Feeding

The AAP and the WHO recommend that infants should be exclusively breastfed
or given breast milk for 6 months. The decision to breastfeed should be
considered a public health issue and not only a lifestyle choice
I. Advantages to the mother
1- Help involution of the birth Canal and reduce risk of post partum hemorrhage.
2- Natural method of Contraception.
3- Reduce the incidence of Cancer breast.
II. Advantages to the infant
A. Qualitative differences between human and cow’s milk
Human milk Cow’s milk
1.Protein
a. Dietetic protein
- Soluble (lactalbumin) - 60% - 20%
- Insoluble (casein) - 40% - 80%
- Soluble /Insoluble ratio - 3:2 - 1:4
Protein is fine and thin and Protein is tough & thick
easily digested And hardly digested
b.Non dietetic protein
- Lactoferrin level - High o Static to E.coli - Traces
o n iron absorption
o Immunomodulator
- Immunoglobulins - High (specific to human - Traces (Specific to
Pathogens) animal pathogens)
- Lysozymes level - High o bactericidal - Traces.
- Essential amino acids - High o essential for brain - Traces.
development

2. Fat
- Fat globules size - Smaller size o easy digestion - Larger size o hard digestion
- Diurnal variation - Present o high concentration - Absent
at the evening & end of feed
- Lipase enzyme level - High o help digestion - Lower level
- Essential fatty acids - Higher (11%) especially - Lower level
Leinoleic and oleic acids.
- Volatile fatty acids. - Low level o less GIT - High o frequent GIT upsetso
upsets regurgitation & distention

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 16 Illustrated Baby Nelson

3. Carbohydrate - E lactose o no fermentation - D lactose o high incidence of

(no gases nor vomiting) fermentation o excess gases,
- Some is converted to lactic and vomiting.
acid:
o n Calcium absorption.
o Bacteriostatic effect
4. Minerals
- Amount - Low - High o high risk of
hypernatremia
- Calcium/Phosphate - 2/1 ; so absorption is better - 4/3 so less absorption o
ratio and rickets is less common high risk of rickets
- Sodium content - Low ( less renal solute load) - High
- Iron - Low with good absorption - Very low with bad absorption
st
sufficient for 1 4 – 6 months (less bioavailable)
5. Bacterial content - Sterile - Liable to contamination
Breast milk contains numerous growth factors e.g.
 Epidermal growth factor: promote repair of intestine
 Transforming growth factor (TGF): Promotes epithelial cell growth
 Nerve growth factor: Promotes neural growth
Breast milk is suggested to protect against: acute diarrhea, otitis media,
urinary tract infections, necrotizing enterocolitis, DM, Crohn, Celiac and Cancer
Breast milk for premature is characterized by
1. Protein is higher by 20% with higher immunoglobulins and lactoferrin.
2. Fat is higher by 50% with higher content of long chain polyunsaturated
fatty acids, which are essential for brain and retinal growth.
3. Vitamins o higher content of vitamins A & E.
4. Carbohydrate o lower lactose content.
5. Contain platelet activating factor acetyle hydrolase & IL-10 which protect
against necrotizing entero colitis (NEC)
x Human milk has concentrations of calcium and phosphorus that are
appropriate for full-term infants.
x These amounts are inadequate for the very low birth weight (VLBW)
infant. Breast milk should be supplemented with additional calcium,
phosphorus, and vitamin D, which can easily be done with a
powdered human milk fortifier (Enfamil Human Milk Fortifier,
Similac Human Milk Fortifier ) (Nelson textbook of pediatrics)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 17 Illustrated Baby Nelson

B. Anti-infective properties of breast milk

I. Humoral immunity
1. Breast milk contain Antibodies (humoral immunity) against
o Viruses: e.g. Poliomyelitis, mumps, rota virus.
o Enteric bacteria: e.g. E.coli, cholera.
2. Anti staph factor: a polyunsaturated fatty acid.
3. Anti-protozoal: Lipase enzyme kills Entameoba histolytica & Giardia lamblia
4. Antimicrobial enzymes
o Lyzozyme
o Lactoperoxidases
5. Bifidus factor
o Nature: Amino sugar
o Role: stimulate growth of lactobacillus bifidus which is a normal bacteria
flora in the intestine o interference with pathogenic bacteria as E. coli &
vibrio cholera.
6. Binding proteins
o Nature
- Folic acid binding protein.
- B12 binding protein.
- Lactoferrin; Iron binding protein
o Role: Folic acid, B12, and iron are essential for growth of pathogenic
bacteria ; binding proteins deprive pathogenic bacteria from these
growth factors with subsequent bacteriostasis.
II. Cellular immunity
a. Polymorphnuclear leucocytes and macrophages which can
- Secrete lysozymes, complement, and lactoferrin
- Phagocytose and kill bacteria and fungi
b. Lymphocytes:
- T lymphocytes provide cell mediated immunity
- B lymphocytes secrete antibodies ; mainly IgA
III. Others
o Low buffering effect: neutral or slightly alkaline milk pH preserves
gastric acidity which acts as a barrier against infection
o Low incidence of necrotizing enterocolitis (NEC)
o 2OLJRVDFFKDULGHVDQGț-casein: Prevent bacterial attachment
o Nucleotides: Enhance antibody responses and bacterial flora

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 18 Illustrated Baby Nelson

Efficiency (Adequacy) of breast feeding

Evidence of adequate feeding
1. Adequate weight gain on serial assessments (the most important clue)
2. Satisfaction after feeding; the baby sleeps 2-3 hours after feedings
3. Normal bowel habit: no diarrhea or constipation
4. Normal urine flow
5. Test feed
o Weigh the infant before & after feeding with unchanged clothes 6
times a day
o Calculate amount of the feed for 3 days and then take the average
Abnormalities of breast feeding
Under feeding Over feeding
Manifestations * Exaggerated initial weight loss * Excessive weight gain
Followed by poor weight gain
* None satisfaction post feed * Excessive crying & irritability
- Stay suckling for longer due to colic and distension
- Stay alert after feeds * Repeated vomiting
- Excessive crying * Bulky stool (may be diarrhea)
- Sucking fingers (hungry!!) * May be polyuria
* Delayed stooling * May be sore buttocks.
* Oliguria
* Hypernatremic dehydration
may occur

Management * Direct observation of breast- - Space feeds apart

feeding can help identify - No suckling > 20 min / feed.
improper technique - Remove excess breast milk
* Examine both infant and by pump post feeding
Mum for a treatable cause
* Supplemental formula
Intervals between feeds (Ideally 3 hours intervals = gastric emptying time)
2 hourly feeding for 4 hourly feeding for
x First 2 weeks of life. x After the 4th month.
x Weak sucker x Overweight and strong suckers.
x Scanty milk flow. x Liberal milk flow.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 19 Illustrated Baby Nelson

Contraindications of breast feeding

I. Maternal causes

Temporary Permanent
1. Bilateral nipple fissuring. 1. Malignancy
2. Bilateral acute mastitis & abscess 2. Active maternal CMV Infection
3. Infectious diseases e.g typhoid 3. Maternal use of certain radioactive isotopes,
4. Mothers on temporary medicines cancer chemotherapy agents, and a small
that is known be secreted in milk number of other medications (See The Lactmed
and may harm the baby Database online for further details)

Active, untreated maternal tuberculosis

A. Current recommendation (American Academy of Pediatrics, 2014):
- Baby is separated from mother until completion of 2 wk of maternal therapy
- During this period milk is expressed for the baby to be fed via bottle
B. Other opinion: Mums can lactate with the following precautions:
o Mum receives anti T.B drugs and uses mask during feeding
o The baby receives prophylactic isoniazid 10 mg/kg/d (Window prophylaxis)
ƒ Continued until the mother has been shown to be sputum culture
QHJDWLYHIRU• mo
ƒ At that time perform Manteaux skin test
a. Positive test: INH is continued for a total duration of 9-12 mo
b. Negative test: stop INH & vaccinate the infant with INH resistant
BCG
o Separation is considered if the mother:
- Suspected to have drug resistant TB
- Acutely ill
- Non adherent to treatment
Infant to HIV mothers
o In developed countries :breast feeding is contraindicated where safe
nutritional alternative is readily availabale
o In other regions: risk of viral transmission if feeding allowed must be
weighed against risk of developing malnutrition if breast feeding withhold
Infant to HBsAg positive mothers
Breast feeding is allowed provided the baby got both the HBV vaccine & Ig

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 20 Illustrated Baby Nelson

I. Infant causes

1. Milk protein allergy: Extremely rare.

C/P - Colic ,vomiting, diarrhea
- May be bloody stool or occult blood in stool.
Treatment - Hypo allergenic formula
2. Lactose intolerance
Due to - Lactase deficiency ; primary or secondary to gastroenteritis
C/P - Accumulated lactose in intestine leads to:
o Fermentation o abdominal distension ,colic &vomiting
o Osmotic diarrhea o reducing substance in stool.
o Change to lactic acid o acidic motions o perianal soreness
o stool pH < 5
Treatment - Lactose free formula
3. Galactosemia: Autosomal recessive disorder
Lactase
Normally: Lactose enzyme Glucose + Galactose -1-Phosphate (Gal-1-P)
Galactose 1 phosphate
Gal-1-P Uridyle transferase
Glucose.

In galactosemia : absent Gal-1-P huridyl

d transferaseo
l accumulated Gal-1-P
leads to:
- Cataract (absent red reflex in newborn)
- Chronic active hepatitis, hepatomegaly
- Mental retardation
Treatment: lactose/galactose-free formula

4. Phenyleketonuria: Autosomal recessive disorder

Phenylalanine
Normally: Phenylalanine Tyrosine & Tryptophan
hydroxylase

In phenylketonuria : Defective phenylalanine hydroxylase enzyme leads to:

- Fair skin , hair and blue eyes
- Cerebral palsy and seizures
- Mental retardation.
Diagnosis
- Positive screening test of Guthrie
- Phenylalanine > 1200 mol/L + Normal / low tyrosine
Treatment: Phenylalanine low formula (contain tyrosine)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Page | 21 Illustrated Baby Nelson

Problems with breast feeding

Nipple Pain
x Common complaint in the immediate postpartum period
x Due to poor infant positioning and improper latch and or nipple candidiasis
Treatment
x Treat both mother and baby if candidiasis is found.
x If accompanied by engorgement, express milk manually until healing has
occurred (Breast milk can be refrigerated and used within 48 hours. Frozen
milk can be used for up to 6 months-thawing should be by warm water but
never in microwave!)
Engorgement
x Incomplete removal of milk due to poor breast-feeding technique or other
reasons such as infant illness
x The breasts are firm, overfilled, and painful
Treatment
x Frequent breast-feeding
x Manual milk expression before breast-feeding may be required.
Mastitis
x Presentation
- After the 2nd post-delivery week
- Usually unilateral localized warmth, tenderness, edema, and erythema.
- Sudden onset of breast pain, myalgia, and fever.
x Organisms implicated
Staphylococcus aureus, Escherichia coli, group A streptococcus,
Haemophilus influenzae, Klebsiella pneumoniae, and Bacteroides spp.
Treatment
x Oral antibiotics and analgesics
x Promote breast-feeding or emptying of the affected breast
x Breast abscess: Intravenous antibiotics as well as incision and drainage,
along with temporary cessation of feeding from that breast.
Jaundice
a. Breast-feeding jaundice
- Largely related to insufficient fluid intake
- &RPPRQO\DVVRFLDWHGZLWKH[DJJHUDWHGSK\VLRORJLFZHLJKWORVV•
- It may also be associated with dehydration and hypernatremia
b. Breast milk jaundice (See neonatology)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Page | 22 Illustrated Baby Nelson

Artificial Feeding

Defined as supplying any milk other than breast milk

Indications
1. Substitutive feeding (all breast feeds are replaced by bottle feeds)
- Absent mother
- Contraindications to breast feeding ( maternal or infant causes) .
2. Mixed feeding
a. Complementary feeding (Breast feeds are completed by bottle feeds)
- Indicated when breast milk is not enough (scanty breast milk secretion)
- Precautions:
- Breast milk should be given first and completely emptied.
- The used milk should be humanized formulas.
- Formula should not be sweetened
- Bottles holes should not be large
b. Supplementary feeding (some breast feeds are replaced by bottle feeds) for:.
- Working mother.
- Twin delivery (breast and bottle given to each baby alternatively)
Disadvantages: - Liable to Contamination.
- Costly
- Lack advantages of breast milk

1. Fresh fluid animal milks

Types: * Cow’s milk o most commonly used worldwide.
* Buffalo’s milk o most commonly in Egypt.
* Goat’s milk
* Ass milk o near in composition to human milk.
Specific disadvantages
A. Drawbacks of Goat’s milk:
x Low folic acid on incidence of megalobalstic anaemia
x High risk of brucellosis.
B. Drawbacks of cow milks:- (See comparison between breast & cow milk)
1. High incidence of diarrhea, respiratory infections & allergies
2. High risk of iron deficiency anemia due to:
- Low iron content with poor absorption
- Low lactoferrin content.
- Occult blood loss due to heat labile protein.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 23 Illustrated Baby Nelson

2. Dried powdered milk formula

* Dried powdered milk formula are based on cow milk in most cases
Advantages
1- Can be modified, so Fits for different infant needs.
2- Fortified with vitamins , minerals, and trace elements
1. Humanized formulas
Modifications: Modified to be very similar to breast milk :
- Protein is modified to form a fine curd
- Carbohydrate content is increased.
- Fat is refined with increased poly unsaturated fatty acids
- Vitamins (especially vitamin D & C) are added
- Calcium: phosphate content reduced and ratio adjusted
- Trace minerals are added particularly Iron , copper & zinc
Indications : - Healthy infants when breast milk is scanty or unavailable
- Large prematures (2-2.5 kg)
- Milder degrees of malnutrition
Examples : - Novalac , Bebelac, Nan, Biomil, Aptamil
Ÿ 1 spoonful (4gm) for each 30 ml water.
- Similac , S-26
Ÿ 1spoonful (8gm) for each 60 ml water.

N.B (May be numbered as 1 for the 1st 6 months of life, 2 for the next 6
months of life, and may be 3 for after 1 year of life)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 24 Illustrated Baby Nelson

2. Lactose free formula

Modification : - Lactose is replaced by other sugar (sucrose or glucose)
Indications : - Lactose intolerance.
- Galactosemia
Examples : - Enfamil LactoFree, S26-LF, Isomil

3. Hypoallergenic formula
A. Casein hydrolysate based formula
1. Partially hydrolyzed
Containing oligopeptides with a molecular weight of <5000 d
Or
2. Extensively hydrolyzed
Containing peptides with a molecular weight <3000 d.
Indications
o Prevent or delay atopic dermatitis
o Infants intolerant to cow's milk or soy proteins
o These formulas are lactose free and can include medium-chain
triglycerides, making them useful in infants with malabsorption
Examples
x Aptamil Pepti 1 and 2
x Pepti junior
x Pregestimil

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Page | 25 Illustrated Baby Nelson

B. Amino Acid Formulas

Amino acid formulas are peptide-free formulas that contain mixtures of
essential and nonessential amino acids.
Indications
o Infants with dairy protein allergy who failed to thrive on extensively
hydrolyzed protein formulas
o For severe Cows’ milk allergy, and multiple food protein intolerance
Examples
x Neocate LCP
x Nutramigen AA (Gluten & Lactose-free)
x EleCare (Similac)

N.B (Soy protein based formula e.g. Isomil is not

fit for cow milk allergy due to cross allergy
but can be used as a lactose free formula )
4. Preterm infant formula
Modification : - More protein , medium chain triglycerides,
vitamins and calories( 80 calories /100 ml )
- Lower lactose.
Examples : - Enfamil EnfaCare, Enfalac premature, Similac expert care

5. Pre-thickened formula
Indications : - Regurgitations and Gastro esophageal reflux disease
Modification - Contain pregelatinised rice starch or
cooked corn starch
Precaution : - Not to be used for a period of > 6 months
- Not to be used in conjunction with antacid
products
Example : - Enfamil AR

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Page | 26 Illustrated Baby Nelson

6. Amino Acid-Modified (Metabolic) Formulas

a. Phenylalanine low formula
Indications : - Phenyleketonuria
Example : - Lofenalac

b. Branched chain amino acid free formula

Nutrition support of children with maple syrup urine disease
Supplemented with L-carnitine and taurine
Example: Ketonex

c. Methionine-free formula
Nutrition support of children with homocystinuria
Example: Hominex

7. Formulas for specific diseases

a. Nutrition support for babies with renal failure
Modifications:
- High calorie with low fluid volume
- Low salt , low protein
- Low potassium ,and phosphorus
Examples:
- Renastart
- Suplena
- Nepro

b. Nutrition support for children with acute or chronic liver failure

- Generaid
- Heparon Junior

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 27 Illustrated Baby Nelson

Program of Artificial Feeding

1. Decide type of milk

* According to:
1. Whether the baby is healthy (R/ humanized formula) or not
2. Financial conditions of the family
* Use either:
- Dried powdered milk
- Fresh fluid animal milk(not preferred in the 1st year of life).

2. Determine the amount of milk needed by

a- Age method
- Valid only for healthy full term .
- Amount of milk (ml/feed) = Age in days × 10
Age in weeks × 10 + 70
Age in months × 10 + 100
b- Caloric(weight) method
- this method is valid for both the healthy and diseased babies
- More accurate than age method
- Calculation:
– Normal healthy infant needs 110 cal/kg/d.
– Milk contain 67 cal/per 100 ml.
– So total daily need of milk = 100/67 × (110 × body weight in kg).
– This total amount is divided into feeds.
3. Formula (concentration of milk)
i- Formula of dried powdered milks:
– One measure of 4 gm diluted by 30 mL boiled water e.g. Bebelac
– One measure of 8 gm diluted by 60 mL boiled water e.g. Similac
ii- Formula of fresh fluid animal milk (not recommended !!!)

4. Number of feeds per day: According to age; roughly

Between 0-4 months o every 3 hours
Between 5- 8 months o every 4 hours
Between 9-12 months o every 5 hours
5. Determine method of feeding: According to age & condition: Bottle, tube, or
dropper

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 28 Illustrated Baby Nelson

Weaning
Introduction of semisolid and solid foods besides breast milk or formula
Values
o Compensate for increasing infant needs that can not be fulfilled by breast
milk alone.
o Train the gastrointestinal tract and train the baby to use cup and spoon.
o Supply vitamins and minerals e.g. A , D , C , iron , zinc and calcium
When to initiate?
* Begin weaning at 6 months of age: Why?
- Maturation of digestive enzymes occur
- Decline of minerals and vitamin stores
- Caloric value of breast milk becomes inadequate.
* Never try before 4 months due to:
- Digestive enzymes of the infant have not developed yet
- Breast milk is sufficient in the 1st 4 months of life
- Risk of developing allergies
When to complete?
* At 1.5 to 2 years
Guidelines of weaning? (By American Academy of Pediatrics; Nelson 2016)
ƒ Serve foods immediate after preparation
ƒ Stepwise weaning
- Introduce 1 food at a time
- Small amount of one food is started and increased gradually
- Do not introduce other new foods for 3-5 days to observe for tolerance
- Feed slowly, do not force; many trials may be needed as spitting can
occur.
ƒ During illness give breast feeding and increase food intake after the
illness.
ƒ At the proper age, encourage a cup rather than a bottle
ƒ Energy density should exceed that of breast milk
ƒ Iron-containing foods (meat, iron-supplemented cereals) are required
ƒ Zinc intake should be encouraged with foods such as meat, dairy
products, wheat, and rice
ƒ Phytate intake should be low to enhance mineral absorption
ƒ Breast milk: exclusive in the first 6 months and should continue to 12 mo
ƒ Fluids other than breast milk, formula, and water should be discouraged

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 29 Illustrated Baby Nelson

How to start? Suggested plan

Age Suggested food
6 mo. Cereals, cornflower puddings (Cerelac) ,biscuits
7 mo. Rice , Rice pudding , cheese and mashed fruits
8 mo. Vegetable soups in water and yogurt, egg yolk
9 mo. Beans and vegetable soup in meat
10 mo. Mashed liver and meat
11 mo. Poultry and rabbits
12 mo. Mashed red meat , fish
In the 2nd year Other family foods including fresh animal milks
What food to avoid?
- Canned foods
- Salt and spices
- Use of whole Cow milk below 1 year
- Sugar : no sugar sweetened beverages
- Chocking foods( e.g. nuts, grapes, raw carrots) in the first 3-4 years
- Allergenic foods e.g. Egg white
- Fruit juices during the first 6 mo of life and limited amounts of juices
thereafter (120-180 ml /day for ages 1-6 yr )

Problems with weaning

1- Allergies o may follow some new foods e.g eggs, .....
2- PCM o sudden weaning on starchy foods o Kwashiorkor (KWO).
3- Colic is common especially with:
- Excess sugary fluids
- Early aggressive weaning
4- Diarrheal disorders o gastroenteritis due to contaminated foods.
5- Dental caries: associated with excess carbohydrates and bottle feeding.
6- Delayed weaning may predispose to:
- Marasmus
- Iron deficiency anemia.
- Rickets.
7- Some Diseases may manifest during period of weaning: e.g.
- Favism
- Celiac disease

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 30 Illustrated Baby Nelson

Self Assessment Clinical Cases

Case 1
You are reviewing this 8 months old, breast fed baby boy who had gastroenteritis for the
previous 2 weeks, now he is irritable, has distended abdomen, still having mild watery
diarrhea and some peri anal soreness
a. What is your diagnosis?
b. How can you confirm it?
c. What is your decision?
Case 2
Lactating mother with an acute medical condition cannot feed her full term normal male
infant 2 mo age & 4 kg weight for about 3 days. His grandmother will take care of him.
a. What is the type of artificial milk appropriate for him?
b. What is the number of feeds/ 24 hr?
c. How much is the amount of milk required /feed?
d. How can she prepare the formula (concentration of milk given)?
Case 3
A 10 months old, breast fed boy who was switched to cow milk at 9 months as his mother
has to return work, the mother complains that her baby becomes irritable, with more
frequent vigorous crying episodes , vomiting and distension with occasional bloody stool;
his weight declined from 8.7 kg to 6.5 kg
a. What is the provisional diagnosis?
b. What is the laboratory test required?
c. What is the preferred formula for this boy?

Case 4
A list of artificial milks
A. Humanized formula
B. Lactose free milk
C. Premature formula
D. Phenylalanin low formula
E. Predigested formula
F. Hydrolyzed formula
From list above select the milk suitable for the following cases:
1. Diarrhea that continues for 2 weeks following an attack of Rota virus gastro enteritis
2. Diarrhea that continues for more than 2 months with failure to thrive
3. A 1.8 kg newborn that developed neonatal seizures who has fair skin and hair and
whose urine shows abnormal urine aminogram
4. A 1.8 kg newborn who developed neonatal seizures and abnormal liver function and
abnormal red reflex
5. A 1.8 newborn that just recovered from RDs

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
 ‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‪.‬‬
‫ﺩﻋﻮﺍﺗﻜﻢ‬ ‫ﺭﻓﻌﻪ ﺩ‪ .‬ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‪.‬‬

‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‪14‬‬

‫‪Nutritional disorders‬‬
Page | 31 Illustrated Baby Nelson

Protein
ProteinCaloric
CalorieMalnutrition
Malnutrition(PCM)
(PCM)

[Protein Energy Malnutrition ;PEM]

Classifications of PCM
1. Wellcome classification: Based on weight for age & presence of edema.
Ratio of current weight to Symmetrical Diagnosis
expected weight for age Oedema
> 80% ++ Nutritional edema or KWO
60-80% -- Simple underweight
60-80% ++ Kwashiorkor (KWO)
< 60% -- Marasmus
< 60% ++ Marasmic KWO

2. Waterlow Criteria
A. Changes in weight may be an indicator of acute malnutrition.
Actual wt (kg) ×100
Expected wt for ht at 50th centile
x Grade 0 : • ĺ1RUPDO
x Grade I : 80%–89% ĺ0LOG
x Grade II : 70%–79% ĺ0RGHUDWH
x Grade III : <70% ĺ 6HYHUH
B. Changes in height may be an indicator of chronic malnutrition.
Actual ht (cm) ×100
Expected ht for age at 50th centile
x Grade 0 • ĺ 1RUPDO
x Grade I : 90%–94% ĺ0LOG
x Grade II : 85%–89% ĺ0RGHUDWH
x Grade III : <85% ĺ 6HYHUH
3. WHO criteria
x Wasting: Low weight for height(WFH) below the median
x Stunting : Low height for age (HFA) below the median
4. Kanawati criteria
x Uses MUAC divided by occipitofrontal head circumference(see before)
x Malnutrition degree: Mild < 0.31 , moderate <0.28 , severe <0.25
(Nelson Textbook of Pediatrics and Texas Children’s Hospital Handbook of Pediatrics, 2016)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 32 Illustrated Baby Nelson

Kwashiorkor (KWO)

(Edematous PCM, Red Baby)

Definition
x Acute protein deficiency with normal or even high caloric intake
x “The sickness the baby gets when the new baby comes” in Ghana language
Incidence
x More frequent in babies whose mums are poor , and ignorant
x KWO usually affects infant ages between 6 months to 2 years
Causes
Main factor
- Sudden faulty weaning on starchy, carbohydrate, protein deficient diet.
- Maternal deprivation: the 1st baby is neglected (affected) when a 2nd is born
Contributing factors :infections e.g.
- Pertussis o recurrent vomiting.
- Chronic diarrhea and parasitism o protein loss in stool.
- Measles o complicating enterocolitis.
Clinical Picture
Constant features

1. Edema

x Starts in the dorsa of feet & hands x Facial edema produce prominent
then the upper and lower limbs pale cheeks o Doll facies
x Edema is bilateral, pitting & painless x Periorbital edema
x With shiny overlying skin
x Ascites and pleural effusion are usually absent
Etiology of edema
o Hypoalbuminemia o reduced plasma osmotic pressure
o Decreased anti-oxidants ofree radical damage o Ĺ capillary permeability
o Other propoVHGFDXVHVĻ1D.-ATPase activity & aflatoxin poisoning
o Increased Aldosterone and ADHo salt and water retention

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 33 Illustrated Baby Nelson

Grading of edema
o Grade 1: mild edema on both feet or ankles
o Grade 2: moderate edema on both feet, lower legs, hands, or lower arms
o Grade 3: severe generalized edema affecting limbs & face
2. Mentality changes
x Patient looks dull , apathetic, miserable,
disinterested in surroundings with marked anorexia
x Global developmental delay in severe malnutrition
Due to
* ↓ Aromatic amino acids o ↓ Neurotransmitters
* Maternal deprivation.
3. Growth retardation
x Failure to gain weight followed by weight loss
x Length is much less affected as KWO is acute disease.
x Weight loss may be masked by edema and preserved subcutaneous fat
4. Muscle wasting
x Muscles are thin, atrophic & weak
x Decreased mid upper arm circumference < 12 cm
x Head circumference / chest circumference ratio > 1

Variable features
1. Hair changes
x Hair is lusterless , brittle, sparse, easily pickable
x Progressive lightening of hair; black o brown o
reddish o yellowo gray
x Flag sign:
- Alternating bands of light color & normal color
- In long haired with relapses of malnutrition
x Due to tyrosine and copper deficiency (essential for melanin synthesis)
2. Skin changes
x Starts as dry scaling skin o erythema
o hyperpigmentation & desquamation
(Crazy paving or Flaky paint dermatosis)
x Skin infection is common
x Possible causes:
- Vitamin A deficiency
- Essential fatty acids deficiency
- Zinc deficiency

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Page | 34 Illustrated Baby Nelson

3. Hepatomegaly
x Caused by fatty infiltration due to decreased lipotropic factors
x No hepatocyte damage (No cirrhosis)
x Hepatomegaly is reversible with treatment.
x Size may increase at the start of treatment if high
caloric diet is used due to accumulation of glycogen
before disposing fat (nutritional recovery syndrome)
4. GIT manifestations
x Diarrhea due to gastroenteritis and /or Malabsorption
x Abdominal distension may be due to malabsorption or hypokalemia
5. Anemia: May be due to:
x Iron deficiency o hypochromic microcytic anemia
x Protein deficiency o normochromic normocytic anemia
x Folic acid and/or B12 deficiency o megaloblastic anemia
6. Vitamin deficiency
x Vitamin A deficiency (very common) manifested by:
R Eyes : - Xerosis, Bitot spots
- Keratomalacia
- Corneal ulcers and eventual scarring
R Mouth : stomatitis.
x Vitamin C o spongy bleeding gums
x Vitamin B2 deficiency : cheilosis, angular stomatitis.
x Vitamin D deficiency : it is usually not manifest due to arrested growth
x Vitamin K deficiency o bleeding tendency.
Complications(DIE B H4)
1- Dehydration: Due to gastro enteritis & anorexia.
2- Intercurrent infections:e.g.
R Gastro enteritis
R TB & bronchopneumona
R Oral moniliasis
R Noma : It is chronic necrotizing ulceration of the gingiva and the cheek
- May be incited by fusobacterium necrophorum & prevotella co infection
- Manifestations: fever, malodorous breath, anemia, leukocytosis
3- Electrolyte disturbances:
- Hyponatremia
- Hypokalemia
- Hypocalcemia & hypomagnesemia Ÿ may be tetany
4- Blindness: due to keratomalacia secondary to severe vitamin A deficiency

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 35 Illustrated Baby Nelson

5- Hypothermia
6- Hypoglycemia: Commonly associated with sepsis
7- Heart failure due to:
- Severe anemia.
- Volume overload.
- Weak myocardium Ÿ dilated cardiomyopathy.
8- Hemorrhage due to:
- Vitamin K deficiency.
- Disseminated intravascular coagulation (DIC)
Investigations
1. To support the diagnosis
x Plasma proteins:
- Decreased total plasma proteins < 4.5 gm /dl(normal 6-8 gm/dl).
- Decreased albumin < 2.5 gm / dl (normal 3.5 – 5 gm/dl).
x Non essential / essential amino acids > 3 (normally d 2 ,between 2-3 in
subclinical cases)
2. To detect complications
x Monitor blood glucose closely
x CBC for anemia and leukocytosis in infection
x Sepsis workup e.g. CBC with differential, CRP, urinalysis, stool analysis,
blood culture, chest x ray and tests for tuberculosis
x Serum electrolytes/minerals: Na, K, Ca, Mg.
Incomplete KWO (Pre KWO)
The patient shows all constant features of KWO except oedema & all variable features
except skin changes
Phenomena which may occur during KWO treatment
1. Hypokalemia: Hypokalemia (already present ) is aggravated by glucose infusion
2. Circulatory overload:
With infusion of large doses of blood or plasma on plasma osmotic pressure o
shift of fluid from interstitial compartment to intravascular compartment o volume
overload & heart failure.
3. Initial weight loss: May occur due to absorption of edema fluid.
4. Nutritional recovery syndrome may rarely occur due to either:
A. Excess caloric intake o excess glycogen deposition in the liver before disposing
excess fat o hepatomegaly may increase at the start of treatment
B. Excess protein intake > 6 gm/kg/d o liver is exhausted by protein metabolism
Ÿ Excess ammonia load on the liver leads to:
1. Hepatic encephalopathy with lethargy, convulsions & coma.
2. Hepatocyte necrosis o liver cell failure with hepatomegaly, jaundice, ascites
and even liver cirrhosis later on.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 36 Illustrated Baby Nelson

Marasmus
Marasmus
(Failure to thrive or non oedmatous PCM with severe wasting)
Definition: Chronic under nutrition with deficiency of both proteins & calories.
Causes
I. Primary (Dietetic)
x Target age: 6 months – 2 years
x Usually in low socioeconomic classes where the mothers are ignorant
x Inadequate food intake due to

A. Low quantity B. Poor quality

- Scanty breast milk in breast fed infants - Prolonged breast feeding
- Scanty or infrequent feeds in without supplementation
artificially fed - Diluted formula in artificially fed
- Low caloric diet in older infant - Reliance on fluids
C. Feeding difficulties: e.g. with bilateral cleft lip and /or palate

II. Secondary (Non dietetic)

1. Preterms and twins: are more prone to maramsus due to:
x High rate of growth in face of weak suckling power and limited
capacity for digestion and absorption
x Limited fat stores
2. Chronic infections
x Examples: Tuberculosis, empyema, chronic pyelonephritis, etc…
x Mechanism : Anorexia & hypercatabolic state
3. Malabsorption states/Metabolic diseases
x Recurrent gastro enteritis / Chronic diarrhea
x Malabsorption syndrome due to e.g., Cystic fibrosis, celiac disease.
x Inborn errors of metabolism e.g. Galactosemia ,organic acidemias
4. Pediatric malignancies: via anorexia, hypercatabolism & chemotherapy
5. Congenital anomalies
x Neurologic: e.g. cerebral palsy, mental retardation.
x Congenital heart diseases
x Gastrointestinal e.g.
- Gastroeosphageal reflux disease.
- Congenital pyloric stenosis.
x Renal anomalies (due to associated UTI & acidosis).
6. Maternal neglect (child abuse; non organic failure to thrive)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 37 Illustrated Baby Nelson

Pathophysiology of Marasmus
x In infants the daily caloric intake is consumed as follows:
- Basal metabolic rate (BMR) 50 % Ÿ unavoidable
- Physical activity 25 %
- Growth 12 %
- Losses and others 13 % Ÿ unavoidable.
x When there is caloric deficiency the first compensatory mechanism will
be decrease physical activity and arrested growth. With advanced
caloric deficiency the body utilizes his own tissues; firstly fat then
proteins to maintain BMR which results in marasmus.

Clinical picture
I. Symptoms: (5C)
x Failure to gain weight followed by progressive weight loss(Cachexia)
x Baby is usually hungry: irritable, Crying, sucking fingers with little sleep.
x Constipation due to reduced food intake but may be diarrhea due to
starvation (greenish, scanty, offensive with mucus & debris) , gastroenteritis
,malabsorption or maldigestion
x May be features suggesting the Cause
x May be features of Complications e.g. gastro enteritis, pneumonia.
II. Signs
A. Protein deficiency manifestation
1. Body weight is less 60% of the normal weight for age without oedema.
- Loss of 40% of pre illness body weight o1st degree marasmus
- Loss of 40-50% of pre illness body weight o 2nd degree marasmus
- Loss of > 50% of pre illness body weight o 3rd degree marasmus
2. Muscle wasting
x Muscle is sacrificed to keep near normal
plasma proteins.
x Muscle wasting is more severe in marasmus
than in KWO giving rise to stick like
appearance of limbs
x Muscle wasting is detected by decreased
MUAC and chest circumference.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Page | 38 Illustrated Baby Nelson

B. Caloric deficiency manifestation

1. Loss of subcutaneous fat from
x Abdominal wall (1st degree marasmus)
x Buttocks & limbs x Cheeks (senile face)

(2nd degree marasmus) (3rd degree marasmus)

The buccal pad of fat is the last to be lost as it is unsaturated fat essential
for suckling
Outcome
o Skin becomes thin, loose, wrinkled, thrown into folds especially on
the medial aspect of the thighs.
o Decreased triceps skin fold thickness
o Prominent normal costochondral junctions in marasmus due to loss
of subcutaneous fat are called false rosaries.
2. Hypothermia due to
o Loss of subcutaneous fat o excess heat loss.
o Hypoglycemia o decreased basal metabolic rate.
o Septic shock.
C. Vitamin deficiency, anemia, hair & skin changes may occur as in KWO
D. Signs of an underlying cause in secondary marasmus
Complications
As in kwashiorkor plus (MOAP)
1- Muscle fibrosis in advanced cases
2- Oedema may occur with development of marasmic
kwashiorkor
3- Atrophic ulcers over bony prominences
4- Purpura due to DIC due to dehydration, toxemia,
acidosis
Investigations
1. Biochemical changes in marasmus
Blood : - Hypoglycemia (due to reduced glycogen stores in the liver).
- Plasma proteins slightly reduced
Urine: - Ketonuria (fat hypercatabolism).
- Increased creatinine (muscles hypercatabolism)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 39 Illustrated Baby Nelson

2. For a cause in the secondary marasmus

1- Stool analysis for parasites, stool cultures and malabsorption workup
2- Urine analysis and culture
3- Abdominal sonography.
4- Organ function tests (renal & liver functions tests)
5- Others :e.g.
- Chest x-ray
- Tuberculin test: is commonly negative due to 2ry immunodeficiency
- Echocardiography for suspected congenital heart diseases.
- Barium study , endoscopy ± biopsy for suspected GIT diseases
3. For complications Ÿ as in KWO
Death May occurs in severe complications especially due to:
x Hypoglycemia
x Shock (septicemia or dehydration) o disseminated intravascular
coagulopathy
x Heart failure

Marasmic KWO: is manifested by:

x Weight < 60% of expected for age with nutritional
oedema(wasting &edema)
x MUAC< 11 cm with edema
x It occurs mainly in marasmic child fed on
carbohydrate diet only without adequate protein o
appearance of oedema o marasmic KWO
x Other features of marasmus : loss of subcutaneous fat
and marked muscle wasting are present
x Other features of kwashiorkor: mentality changes ,
dermatosis and hair changes are present

Failure to thrive: this term is considered if

x Child's weight is below the 5th percentile, or
x Child's weight drops down more than 2 major percentile lines in short
time, or
x Child's weight for height is less than the 5th percentile.
i Etiology & management: Same as marasmus.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 40 Illustrated Baby Nelson

Management of PCM
A. Prevention
x Providing micronutrient interventions such as vitamin A and iron supplements
for pregnant and lactating women and young children
x Encourage exclusive breast feeding
x Proper weaning .
x Regular check of growth by growth curves to pick early malnutrition which
appear as flatting of weight curve
x Deworming in endemic areas & oral rehydration in high-diarrhea regions
x Fortifying commonly eaten foods with micronutrients (such as salt fortified
with iodine) and foods like wheat, oil, and sugar with iron, vitamin A, and zinc
B. Curative
I. Inpatient or outpatient care?
ƒ Outpatient care for clinically well, uncomplicated and with good appetite
ƒ Inpatient care for complicated cases, cases with severe edema and
marasmus kwashiorkor pateints
II. Stabilization phase (In the 1st 1- 7 days) for:
Hypoglycemia
o Glucose l 0% oral, or intra venous
o Frequent feeding ; 2 hourly day & night.
Hypothermia
o Proper wrapping/ Warmers
o Treat hypoglycemia & serious systemic infections
Dehydration:
o Preferably oral rehydration solution (ReSoMal)
o Continue breast feeding
o Intra venous fluids for severe dehydration.

Hypoglycemia, hypothermia and dehydration have priority for treatment in the

first 1-2 days of management
Electrolytes and minerals correction
o Monitor and correct levels of phosphate, potassium, calcium and
magnesium especially with start of feeding (see refeeding syndrome)
Infections
o Appropriate antibiotics
o Specific e.g. Anti tuberculous for T.B.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 41 Illustrated Baby Nelson

Heart failure
- Packed RBCs for anemic heart failure
- Diuretics, vasodilators and cautious use of digitalis
Blood transfusion
o Fresh whole blood transfusion for severe anemia:
20 ml/kg for marasmus and 10 ml/kg for KWO.
o Fresh packed RBCs for severe anemia with anemic heart failure:
10 ml/kg for marasmus and 5 ml/kg for KWO
III. Dietetic treatment
Route
- Preferably oral
- Nasogastric tube for cases with severe anorexia
Amount
o Start at 80-100 cal./kg/day in stabilization phase
o Increase gradually in Rehabilitation phase (2nd - 6th week) to a target of
150-220 kcal/kg/d
o Fluid 130 ml/kg/d (100 ml/kg/d if the child has severe edema) of low
osmolality and low lactose feeds
o Small frequent feeds every 2-3 hours day and night increased gradually
over 1-2 weeks in strength & amount as the appetite improves
Protein intake
o Start with 1-1.5 gm/kg/d and increase gradually to 4- 6 gm/kg/d
Type of food
o If the child is breastfed, encourage to continue breastfeeding but give
the prescribed amounts of starter formula (F-75) to make sure the
child’s needs are met
o Severe malnutrition between 6 – 60 months of age benefit from
Powdered milk–based foods (Formula diets)
- F75 (75 cal/100ml without iron) for initial feeding.
- F100 (100 cal/100ml with iron) is used later in the rehabilitation phase
Ready to use therapeutic foods (RUTF)
- A mixture of powdered milk, peanuts, sugar, vitamins, and minerals
- Much better than formula diets
III. Supportive treatment
1. Multivitamins especially
- Thiamin / Vitamin B complex, Vitamin A
- Vitamin D: prevents rickets during period of catch up growth.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 42 Illustrated Baby Nelson

2. Minerals especially
- Phosphorus
- Magnesium
- Calcium
- Zinc and Copper
- Iron (should be used after the first week of treatment).
3. Plasma or albumin for KWO.
IV. Treat of the cause in secondary marasmus
VI. Follow up phase last from 7th week to 26th week
o For feeding to cover catch-up growth
- High protein diets: eggs, chicken, meat, fish, yogurt, cheese, beans, &
lentils.
- High caloric diets e.g. potatoes, rice
o Providing emotional and sensory stimulation
o Weight gain of 15% is a marker for discharge from hospital

Refeeding syndrome
Definition
x Potentially fatal condition caused by rapid initiation of refeeding after a
period of undernutrition (during the 1st week of starting to refeed)
x Hypophosphatemia is the hallmark of this disorder
x Rapid feeding Ÿ hyperinsulinemia Ÿ intra cellular shift of phosphate ,
potassium ,and magnesium along with salt retention and hyperglycemia
Clinically
o Cardiac: hypotension, arrhythmias
o Respiratory failure
o Neurologic : weakness and paralysis, altered mental status, seizures
o Rhabdomyolysis
o Sudden death
Prevention/treatment
o Give Thiamin 200-300 mg daily oral plus other B complex vitamins
o Start feeding very slow and advance more slowly
o Rehydrate carefully with ReSoMal which has higher potassium & less sodium
o Supplement and or correct levels of phosphate, potassium, calcium &
magnesium

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 43 Illustrated Baby Nelson

Minerals Requirements
Calcium Iron Magnesium Phosphorus
Daily need 800mg 10-15 mg 100 mg 600 mg
Sources - Milk, cheese - Liver, meat - Milk, meat - Milk, proteins,
- green vegetables - Vegetables, apple - cereals, legumes milk products
Functions - Bone & teeth - Haemoglobin. - Bone & teeth - Bone & teeth
- Muscle contraction - Myoglobin. - Conversion of - Structure of
- Nerve transmission - Oxidative enzymes proparathormone muscles
- Blood coagulation as catalase & to parathormone - CHO and fat
- Cardiac action cytochrome oxidase metabolism
Deficiency - Rickets - Iron deficiency - Tetany; associated - Rickets
- Tetany anaemia frequenctly with
- Delayed teething hypocalcemia

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 44 Illustrated Baby Nelson

Water Soluble Vitamins

Criteria
o Include vitamins B complex and C
o Not stored in the body so not toxic
o Therapeutic trialo give dramatic response
o When treating one vitamin deficiency, consider supplying other vitamins as well
o Rich diet: liver , meat ,milk, eggs ,vegetables, cereals ,poultry , fish , whole grains
Vitamin B1 (Thiamine) deficiency
Beri Beri
1. Early Ÿ Fatigue, insomnia, anorexia
2. Dry Beri Beri
- Polyneuropathy
- Dysphonia (recurrent laryngeal nerve paralysis)
- Ataxia, and psychosis (Wernick’s Korsakoff syndrome).

3. Wet Beri Beri o Cardiomyopathy o congestive heart

failure with generalized edema

Treatment - B1 10 mg IM daily (consider supplying other vitamins)

Vitamin B2 (Riboflavin) deficiency

a. Cheilosis , angular stomatitis, b. Keratitis and corneal vascularization

glossitis o Photophobia
Treatment - B1 10 mg IM daily (consider supplying other vitamins)
Vitamin B3 ( Nicotinic acid, Niacin) deficiency
Pellagra (pellis = skin, agra = rough)
1. Dermatitis
- In sun exposed areas (hands, feet, head & neck).
- Erythema, scales, crusts & desquamation
- Sharply demarcated borders
3. Diarrhea - With stomatitis, cheilosis & glossitis
4. Dementia - Apathy.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 45 Illustrated Baby Nelson

Treatment - Vitamin B3 50-300 mg daily

- Avoid maise (poor in tryptophan).
Vitamin B6 (pyridoxine) Deficiency

1. Infantile convulsions - Why ? B6 is essential for synthesis of inhibitory

neurotransmitter; GABA.
- Nature? Myoclonic type
2. Anemia - Why ? Failure of heme synthesis due to failure of iron
utilization.
- Nature? Microcytic hypochronic.
3. Peripheral neuropathy - In patients on INH therapy
4. Skin - Cheilosis and seborrheic dermatitis

Diagnosis - Therapeutic trial with 100 mg IM in convulsions

Treatment - For pyridoxine dependent child 10-100 mg oral daily

- Diet with rich sources as for vitmain B3 & soybeans
Vitamin C (Ascorbic acid)
Value - Synthesis of collagen.
- Necessary for folic acid and iron absorption.
Deficiency
1- Bone tenderness mainly in legs o pseudoparalysis.
2- Bleeding: subperiosteal hemorrhages, swollen bleeding gums & purpura.
3- Scorbutic rosary Beads :
- At costo chondral junctions.
- Sharply angular, tender, irregular.
- With sternal depression.

4- Follicular hyperkeratosis( Papular skin)

5- Poor wound healing
6- Pallor due to (hemorrhagic, folic acid deficiency, iron deficiency) anemia

Treatment: Citrus fruits & vitamin C tablets 100-200 mg daily.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Page | 46 Illustrated Baby Nelson

Fat Soluble Vitamins

Stored in the body so may be toxic

Vitamin E deficiency
Functions - Cell membrane stabilizer
- Anti oxidant
Causes - Fat malabsorption, malnutrition & prematures
Deficiency - Hemolytic anemia in preterm
- Ataxia.

Vitamin A deficiency
Functions - Retinal function (responsible for night vision)
- Integrity of epithelium ( of skin and mucosa)
Deficiency - Night blindness( hard to prove in infancy)
- Eyes o Bitot spots, xerosis, keratomalacia & corneal ulceration.
- Respiratory, gastro intestinal and urinary infection.
- Perifollicular keratosis (Toad s skin)
Toxicity
1. Acute: Due to ingestion of single massive dose.
- Increased intracranial pressure (vomiting, headache,bulging fontanels)
- Resolve spontaneously
2. Chronic: Due to large daily doses for weeks to months
Skin
- Alopecia
- Pruritus.
- Carotenemia (yellow skin)
- Desquamation of hands and feet
Bone
- Craniotabes
- Metaphyseal Deformities

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 47 Illustrated Baby Nelson

Self Assessment Case Scenarios

Case 1
A 10-month-old infant presented to the ER with bilateral edema of the lower limbs and
pallor. His mother gave a history of recurrent attacks of vomiting and diarrhea. On
examination: wt 5.5 kg, pitting edema of both lower limbs, wasting of the muscles of the
thigh and ulceration in the buttocks. Abdominal examination revealed enlarged liver 3cm
below the costal margins, firm consistency.
a. What is the probable diagnosis?
b. Discuss dietetic management?

Case 2
A 12 months old boy, He was one of twin whose birth weight was 1.700 gm and now he is
4.200 gm. He was given exclusive breast-feeding without any supplementations. The
mother was always complaining from insufficient milk in her breast. Examination reveals
alert, irritable, crying infant with skin over bone appearance; no other systemic illness
a. What is the underlying disease?
b. What are the possible 4 risk factors for the existing disease?

Case 3
A 1.5 years old female whose mother complains that she is not gaining weight .History
reveals that the baby has not been interested in feeding since she was 2 months old ;she
got tired easily during breast feeding with marked tachypnea ,tachycardia and sweating.
On examination: weight 4 kg,(birth weight was 3 kg) , MAUC 11cm , wasted buttocks
but no edema. She is alert, tachypneic , tachycardic ,with soft ejection systolic murmur
over pulmonary area and clearly audible second heart sound
a. What type of malnutrition in this case?
b. What is the cause of malnutrition in this case?
c. What are the investigations required to confirm it?
d. What should be lines of treatment for this condition?

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 48 Illustrated Baby Nelson

Vitamin D Metabolism
Daily requirement: 400 IU/day if <1 yr old and 600 IU/ day if >1 yr old
(mainly for breast milk feeders). For Preterm baby Ÿ 1000 IU/d
Metabolism
p Ultra violet rays convert n There’s two forms of vitamin D
7- Dehydrocholesterol in the skin x D2 o ergocalciferol Ÿ plant origin.
to vitamin D3 x D3 o cholecalciferol Ÿ animal origin.

o Vit D is absorbed from

q In the liver: Vitamin D3 is converted to the upper small intestine
25 (OH) D3 by 25 hydroxylase enzyme. with aid of bile salts.

If

x Low serum calcium or phosphate Normal or high serum calcium

x High parathyroid hormone level

1 D hydroxylase enzyme 24 hydroxylase enzyme

is activated. is activated

25 (OH) D3 o 24, 25 (OH)2 D3

25 (OH) D3 o 1, 25 (OH)2 D3 p
Active form Inactive form
 
Functions
Via synthesis of transport protein

 Ca: Ph ratio  +
2 : 1
x Enhance Ca. phosphate x n Renal reabsorption x nIntestinal absorption
deposition in bones. of calcium & phosphate of calcium & phosphate

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 49 Illustrated Baby Nelson

Vitamin D disorders
Hypervitaminosis D
(Vitamin D intoxication)
Excessive prolonged unmonitored vitamin D intake
Clinical picture
Manifestations are due to hypercalcemia:
System Manifestations
1. Gastro intestinal - Vomiting, and constipation
- Acute abdominal pain ( pancreatitis or peptic ulcer)
2. Renal - Polyuria, polydipsia and dehydration
- Nephrocalcinosis and renal stones
3. Cardiovascular - Hypertension
- Aortic valve stenosis
4. Neurologic - Lethargy, and coma (pseudotumor cerebri) in severe
cases
Prevention
o Monitor serum calcium for cases treated with large doses of vitamin D;
if > 11 mg /dl; stop vitamin D
Investigations
o Serum calcium > 11 mg /dl ĺ6XSSUHVVHG37+DQG hypercalciuria
o Hyperphosphatemia
o Elevated levels of 25-D (>150 ng/mL)
o Surprisingly, levels of 1,25-D are usually normal. This may be a result of
downregulation of renal 1Į-hydroxylase by the combination of low PTH,
hyperphosphatemia
o Radiologic: Nephrocalcinosisis often visible on ultrasound or CT scan
Treatment
1. Stop - Calcium & vitamin D intake
- Sun exposure
2. Correct - Dehydration
3. Enhance urinary calcium loss - Saline infusion plus Furosemide
4. Reduce calcium absorption - Prednisone ( the best )
- Cholestyramin
5. Shift calcium to bones - Calcitonin
6. Severe hypercalcemia - Hemodialysis using low or 0 dialysate calcium

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 50 Illustrated Baby Nelson

Important Notes
n Normal serum calcium (Ca) = 9 –11 mg/dl.
Normal serum phosphate (Ph.) = 4.5 – 5.5 mg/dl.
So, Ca: Ph. ratio in blood = 2:1 which is optimal for absorption & mineralization
of bones

o Production of Ca × phosphate usually constant | 40 – 50 this product is called

Holland formula or solubility product.
* If serum phosphate increases o reciprocal decrease in serum Ca occur to keep
the formula constant.
* If Holland formula > 80 Ÿ widespread deposition of ca phosphate occur in
different tissues (metastatic calcifications) especially in the kidneys & heart.

p Serum Ca has 2 forms in balance:

* Non ionized form o inactive
* Inoized form o active form.

Ionized form

n n in acidosis (pH < 7.35) p p in alkalosis (pH > 7.45)

q Parathyroid (Parathormone) hormone (PTH) is secreted from parathyroid

glands
x Main action of PTH is to keep serum calcium constant.
x p Serum Calcium or n Serum phosphate stimulate parathyroids Ÿ n PTH
Ÿ Secondary hyperparathyroidism (2ry HPT).
Actions

x n Ca phosphate x n Ca reabsorption & nPh x nCa & Ph absorption

mobilization from bones excretion in renal tubules from the intestine

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 51 Illustrated Baby Nelson

Tetany

Definition: A state of hyper excitability of the central & peripheral nervous system.
Causes
1- Hypocalcemia Due to
o Decreased calcium intake
o Hyperphosphatemia (common in cow milk feeders)
o Magnesium (Mg) deficiency: Mg is essential for
parathormone synthesis
o Hypertonic dehydration
o Vitamin D deficiency & hypocalcemic rickets.
o Hypoparathyroidism.
o Acute pancreatitis

2- Alkalosis ( Decreases ionized calcium) Due to

- Loss of HCL due to repeated vomiting.
- Excess alkali intake.
- Barttar syndrome.
3- Hypomagnesemia (N = 1.5 – 2.5 mg/dl).
Clinical picture
A . Latent tetany
With serum calcium 7 – 9 mg/dl; detected by:

Chevostek sign Trouseau sign Peroneal sign Erb’s sign

Tapping the facial Inflation of Tapping of the Motor nerve can
nerve in front of the sphygmomanometer peroneal nerve o be stimulated by
ear o twitch of the cuff over the arm dorsiflexion + low current
mouth above systolic abduction of the
pressure for 3 min foot
Ÿ carpal spasm

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Page | 52 Illustrated Baby Nelson

B. Manifest Tetany
With serum calcium < 7 mg/dl ; manifested by :
1. Carpo pedal spasm:
- Flexion of the wrist & metacarpophalangeal joints
- Extended interphalangeal joints
- Flexed adducted thumb.
- Plantar flexion & inversion of the feet
2. Laryngeal spasm (laryngismus stridulous): stridor is afebrile & recurrent.
3. Convulsions: generalized, recurrent,and baby is conscious between attacks
Investigations
For hypocalcemia For hypomagnesemia For alkalosis
* Serum Ca (Total & ionized) * Serum magnesium * Blood gases( pH )
* Serum inorganic phosphrus
* Serum parathyroid hormone.
Treatment
A- Hypocalcemic tetany
1. Acute attack
- Immediately relieve hypocalcemia by intravenous calcium
- Dose: 1- 2ml/kg of calcium gluconate 10%
- Slow infusion over 5-10 minutes with cardiac monitoring
- May repeat at 6 hourly until serum calcium level stabilizes.
2. Once symptoms of hypocalcemic tetany have resolved
- Oral calcium 50 mg /kg tapered over 2-6 wk
- Encourage calcium rich diet
3. Vitamin D therapy
- Is started after control of the acute attack
- For hypocalcemia with rickets o oral calcium & vitamin D till healing
- For hypoparathyroidism o oral calcium & active vitamin D
B- For hypomagnesemia
- Mg sulphate 50%
- Dose: 0.2 ml/kg I.V, I.M or oral

C- For alkalosis
- Metabolic alkalosis: Adequate sodium and potassium intake
- Respiratory alkalosis: Re-breath into bag to n PaCo2

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Page | 53 Illustrated Baby Nelson

Rickets
Definition
Metabolic bone disease due to failure of mineralization of osteoid tissue
of the growing bones due to either:
x Defective intake or metabolism or function of vitamine D.
x Inappropriate calcium / phosphate ratio (usually due to
hypophosphatemia, rarely due to calcium deficiency)
Normal bone ossification
x Resting zone: single layer of cartilage cells
x Proliferating zone: Regular avascular
cartilage
x Normal zone of provisional calcification
o continuous line in ends of long bones
radiographs
x Osteoblasts lay osteoid and secrete alkaline
phosphtase
x Ossification of osteoid in presence of normal vitamin D & calcium phosphate
ratio
In Rickets
x Irregular very vascular excessive cartilage(felt clinically)
x Absent zone of provisional calcification o fraying of the ends of the
long bones in (radiographs)
x Osteoblasts lay excessive osteoid and secrete excessive alkaline
phosphtase (laboratory)
x Poor ossification of osteoid in absence of normal vitamin D or calcium
phosphate ratioo weak non rigid boneo bone yield under pressure o
cupping , broadening, deformities and fractures (clinical/radiographs)

So
Rickets is basically suspected clinically and confirmed with both bone
radiograph and laboratory

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 54 Illustrated Baby Nelson

Classification of rickets
Type of rickets Serum calcium
Calcium deficiency with 2ry hyperparathyroidism
1. Nutritional vitamin D deficiency (Infantile rickets)
2. Secondary vitamin D deficiency due to:
o Malabsorption syndromes (Celiac rickets).
o Decreased liver 25-hydroxylase activity in chronic
Normal
liver disease
Or
o Increased degradation e.g. with anti epileptic drugs.
Low
3. Rickets with chronic renal failure (Renal osteodystrophy)
4. Vitamin D dependent rickets type I
5. Vitamin D dependent rickets type II
6. Calcium deficiency : nutritional , malabsorption or in
premature infant
Phosphate deficiency without 2ry hyperparathyroidism
1. Decreased phosphate intake
x Premature infants (rickets of prematurity)
2. Renal phosphate losses e.g.
Normal
x Familial hypophosphataemia.
x Fanconi syndromes
x Overproduction of phosphatonin e.g. Tumor-induced
rickets
Causes of rickets other than nutritional rickets are referred to as: Non vitamin D
deficiency rickets (or Vitamin D refractory or resistant) as they are not cured
with the same dose or form of vitamin D that cures nutritional rickets
(Nelson Textbook of pediatrics)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 55 Illustrated Baby Nelson

Vitamin D Deficiency Rickets

Predisposing factors
Season : - Commoner in winter
Age : - Commonest age o 6 months - 24 month.
Growth : - More in rapidly growing infant e.g. twins & preterm.
- Less in infants with arrested growth e.g. PCM & cretinism.
Etiology
A. Decreased vitamin D intake due to:
1. Lack of rich sources of vitamin D e.g. egg yolk, meat, fortified milks, fish
liver oil.
2. Use of rachitogenic diet with:
- Poor sources of vitamin D as fresh animal milk ,cereals and carbohydrates.
- Poor sources of calcium as cereals ,and excess leafy vegetables
- Inappropriate calcium /phosphate ratio as in fresh animal milk

B. Lack of access of ultra violet rays to the skin due to:

1. Lack of sun exposure
2. Poor sun exposure through glass windows, clouds & dust.
3. Excessive wrappings of the infants.
4. Poor penetration in dark skinned infants

Clinical picture
I. Early Rickets
1- Anorexia, irritability, & sweating of forehead

2- Craniotabes
- Skull bones yield under pressure o
Ping - pong or egg shell crackling sensation.
- Due to thinning of inner table of the skull
- Disappear by the end of 1st year.
- Detected by pressing over occipital or parietal
bone
3- Rachitic rosaries: palpable enlargement of costochondral junctions (excess
osteoid)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 56 Illustrated Baby Nelson

II. Advanced Rickets

i. Skeletal Changes
1. Head
x Large head
x Large anterior fontanel (delayed closure).
x Asymmetric skull; may be box shaped

x Frontal & parietal bones

bossing due to excess osteoid
x Depressed nasal bridge
x Delayed teething, dental caries

2. Chest
x Rachitic rosaries
- Visible & Palpable.
- Rounded, Regular, Non tender

x Longitudinal sulcus o lateral to the rosaries

x Harrison sulcus o transverse groove along the

costal insertion of the diaphragm
x Chest deformities:
* Pigeon chest o sternum & adjacent cartilages
project forwards.
* Funnel chest o depression of the sternum &
flaring out of the lower ribs.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 57 Illustrated Baby Nelson

3. Vertebral column : there may be

a. Kyphosis: in dorsolumbar region
- Smooth.
- Apparent on sitting, disappear by lifting.
- With compensatory lumbar lordosis
b. Scoliosis: lateral curvature of the spine
4. Extremities
a. Broadening of epiphysis of long
bones especially at wrist &
ankles.

b. Marfan sign: transverse groove

over the medial maleolus due to
unequal growth of the two
ossific centers.

c. Deformities: Due to weight bearing on the soft bones;

* Crawling infants:
- Bowing of forearm
- Anterolateral curvature of femurs
- Anteroposterior curvat1ure of legs
* Walking child:
- Bow legs(Genu varus)
- Knock knees (Genu valgum)
- Overextended knees(Genu recurvatum)
ii. Non Skeletal Manifestations
Manifestations:
1- Delayed motor milestones.
2- Abdominal distension (pot belly abdomen) ; with or without umbilical hernia
3- Ptosis of the liver & the spleen (also due to chest deformities).
4- Constipation o due to intestinal hypotonia.
Etiology: - Hypotonia of skeletal muscles (due to hypophosphatemia)
- Laxity of ligaments
Complications
1- Respiratory infections & atelectasis due to:
a- Limited chest expansion.
b- Hypotonia of respiratory muscles o weak cough reflex.
2- Gastroenteritis due to intestinal hypotonia o stasis o 2ry bacterial overgrowth.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 58 Illustrated Baby Nelson

3- Tetany : may occur in rickets with hypocalcaemia

4- Skeletal deformities: - Mild and early managed cases o reversible.
- Advanced and neglected cases o permanent.
5- Disproportionate short stature (Rachitic dwarfism)o due to deformities of
spine, pelvis & limbs
6- Iron deficiency anemia is a common association ( Von-Jack anemia = anemia ,
rickets , lymphadenopathy and splenomegaly)
Investigations
I. Biochemical
o Serum calcium is normal, but may be low (normal = 9 – 11 mg/dl).
o Serum inorganic phosphrus (Ph.) is low (normal value = 4.5 – 6.5 mg/dl).
o Serum Calcium × Phosphate product is low (less than 30).
o Serum alkaline phosphatase enzyme (Alk. Phos.):
- High
- The most sensitive indicator of rachitic activity; due to osteoblastic activity
- Return to normal after complete healing of rickets.
o Serum Parathyroid hormone (PTH) o high.
o Serum 25 (OH) D3 o low
o Serum 1.25 (OH)2 D3 o low in severe vitamin D deficiency
Explanation: p 1,25 (OH)2 D3 op calcium absorption o serum calcium tend to be
low o n PTH o n calcium & ph. mobilization from bones + n ph. loss
in urine o normalized serum calcium + p serum ph.
However hypocalcemia ( and may be tetany) may occur with:
1- Failure of 2ry hyperparathyroidism to occur.
2- In advanced cases with depletion of bone calcium.
3- Shock therapy o nnn deposition of calcium Ph. in bone on the
expense of serum calcium which may fall below normal.
II. Radiologic: by X-ray at lower ends of long bones especially wrist due to
easy access , rapid growth and soft tissue around is thin.
a. Active rickets
The lower ends show
x Broadening ; widening of the distal end of
the metaphysis
x Cupping or concavity ; metaphysis changes
from a convex or flat surface to a more
concave surface
x Metaphysis loses its sharp border ( Fraying )
x Wide joint space Normal wrist Rachitic wrist

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 59 Illustrated Baby Nelson

The shaft shows

x Rarefaction o p bone density
x May be green stick fracture.
x May be deformities

b. Healing rickets
o Usually seen 2 weeks of vitamin D therapy
o The lower ends shows white concave continuous line at ZPC
o Less evident features of rickets

c. Healed rickets
o Usually seen 4 - 6 weeks of vitamin D therapy
o The lower ends show straight continuous line at ZPC.
o No features of active rickets.

Differential diagnosis from other causes of :

1. Non vitamin D deficiency rickets
2. Delayed motor milestones e.g. Inability to walk
3. Craniotabes which may occur in:
- Prematureo disappear by the 3rd month
- Hydrocephaluso weakness affect all bones
- Osteogenesis imperfectao weakness since birth
- Congenital syphilis.
4. Pott’s disease (T.B of spine): - Kyphosis is angular & persistent.
- X-ray and CT spine is diagnostic.
5. Rosary beads:
a. Scorbutic Rosaries: Due to deficient collagen o subperiosteal hemorrhage
Criteria: - At costo chondral junctions.
- Angular, tender, irregular.
- With sternal depression.
- Associated with other clinical features of scurvy
c. False Rosaries in marasmus : Prominent normal costochondoral junctions
N.B. Atrophic rickets
- Rickets in non growing bones as in protein calorie malnutrition
- Absent osteoid overgrowth signs i.e. No bossing , wrist or ankle broadening ,
rachitic rosaries nor Marfan sign.
- Other signs of rickets are present e.g. wide fontanels, hypotonia,……

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 60 Illustrated Baby Nelson

Treatment
1. Prevention
a. Vitamin D supplement usually as daily multivitamin
Dose: - For less than 1 year o 400 IU/day mainly for Breast feeders
- For above 1 year o 600 IU/day
b. Advice for:
- Exposure of pregnant mothers and infants to sunlight
- Diet with adequate calcium and phosphorus(formula, milk , dairy products)
- Vitamin D and calcium supplement for pregnant and lactating mothers

2. Curative
a. Vitamin D3:
* Oral : 2000 – 5000 IU/day for 4 - 6 weeks
* Stoss (Shock) therapy :
- 300.000- 600.000 IU IM or oral for 2-4 doses over 1day
- Indicated if compliance is uncertain
Either strategy should be followed by daily vitamin D intake maintenance
b. Advice parents for:
- Advice about Diet and sunlight as before
- Avoid weight bearing in infants during active rickets.
c. Treat complications:
* Tetany
* Deformities: osteotomy and reconstruction if severe and persistent.

After 4- 6 weeks of treatment: Look for criteria of improvement;

1. Radiologic : Appearance of zone of provisional calcification is the earliest finding.
2. Laboratory : Normalization of alkaline phosphatase indicates complete healing
3. Clinical: Improved muscle tone but skeletal manifestations may take a longer time
( Some skeletal signs may persist as large head , severe deformities, pigeon chest)
Decision: Reduce vitamin D dose to the normal daily requirement (to avoid toxicity)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 61 Illustrated Baby Nelson

Other Hypocalcemic Rickets

1. Rickets with malabsorption
x Clinical and lab features of malabsorption
+
x Clinical , lab and radiologic features of infantile rickets

Treatment: Treat malabsorption syndrome + 25 OH D3 or

calcitriol (Better absorption) or Parenteral Vit D
The dose is adjusted based on monitoring of serum levels of 25-D

2. Rickets with chronic liver disease

x Clinical features of chronic liver diseaseo jaundice,
bleeding, edema
x Lab features of chronic liver disease o Raised bilirubin ,
liver enzymes , prolonged PT , low albumin

+
x Clinical , lab and radiologic features of infantile rickets

Treatment : Treat chronic liver disease + 25 OH D3

3. Rickets with anti epileptic drugs

x Prolonged anti epileptic medicines ( phenytoin ,
phenobarbitone or carbamazepine ) o enzyme inducers o
inactivation of 25 (OH) D3
x Poor sun exposure or poor diet in neurologically disabled
+
x Clinical , lab and radiologic features of infantile rickets
Treatment: Oral calcium+ Sun exposure + 25 OH D3
Prevented by extra dose of vit D for all susceptible epileptics

4. Vitamin D dependent rickets type I

x Autosomal recessive defect in 1 D hydroxylase enzyme
x Clinical , lab and radiologic features of infantile rickets
But
x Develop early in life
x Serum vitamin D: Normal 25 OH D3 / Low 1,25 (OH)2 D3
Treatment: Oral calcium + 1,25 (OH)2 D3 (R/Calcitriol)
Monitor urinary calcium excretion, with a target of <4 mg/kg/day

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
 Page | 62 Illustrated Baby Nelson

5. Vitamin D Dependent Rickets Type II

x Autosomal recessive end organ resistance to 1.25 (OH)2 D3
x Clinical , lab and radiologic features of infantile rickets
But
x Develop very early in life
x Serum vitamin D: Normal 25 OH D3 / High 1,25 (OH)2 D3
x Associated with short stature and alopecia totalis (severe)
Treatment: Oral calcium+ Calcitriol high dose may be of value
A trial period of 3-6 months with this regimen is initiated
Monitor urinary calcium excretion, with a target of <4 mg/kg/day
6. Renal Osteodystrophy (ROD) (Renal Glomerular Rickets)

Pathogenesis Chronic renal failure

Phosphate retention p 1 D hydroxylase Metabolic acidosis

p 1.25 (OH)2 D3 synthesis

p serum calcium Impaired bone

mineralization
Secondary hyperparathyroidism (2ry HPT )

Increased bone resorption(n Calcium & phosphate mobilization form bones)

More phosphate retention (vicious circle is settled)

Clinical picture
a. Features of chronic renal failure(anorexia ,anemia, growth failure, hypertension, …)
b. General features of rickets but:
- Deformities & fractures are very common due to combined effect of rickets &
secondary hyperparathyriodism.
- Tetany is rare o as metabolic acidosis nn ionized Ca
- Bone pain and muscle weakness in older children.
Investigations
1- Biochemical:
Ca Ph. PTH ALK phos. 25 (OH)2 D3 1.25 (OH)2 D3
Normal or p nn nn n Normal p
x Evidence of renal failure (nurea & creatinine),and anemia
x Urinary phosphate is low unlike other types of rickets

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 63 Illustrated Baby Nelson

2- Radiologic
* General radiological features
* Evidence of secondary hyperparathyriodism:
- Subperiosteal erosions of bones
- May be bone cysts Ÿ osteitis fibrosa cystica.
Management
A- Treatment of CRF o conservative treatment with
or without dialysis.
B- Treatment of ROD in the following steps guided by target level of PTH as
decided by stage of renal failure:
1. Low phosphate diet (consult dietician).
2. Oral phosphate binders o Calcium carbonate (calcimate) or
o Calcium acetate or
o Non calcium based binders (sevelamer; Renagel)
3. Correct chronic metabolic acidosis by sodium bicarbonate tablets
4. Oral One alpha [1 D (OH) D3] or calcitriol

5. Calcimemtic drugs e.g. Cinacalcet can suppress hyperparathyroidism without

inducing hypercalcemia

6. Partial parathyroidecomy for persistent hyperparathyroidism.

N.B. Congenital rickets

- Due to severe maternal vitamin D during pregnancy
- Presentation: a newborn with :
a- Classic rachitic changes
b- Hypocalcemic tetany
c- Intra uterine growth retardation
- Prevented by adequate prenatal sun exposure and vitamin D supply

N.B. Calcium deficiency rickets

Tend to present later than Vit D deficiency rickets ; namely after weaning
from breast feeding. May be associated with Vit D deficiency
Treated by supplemental calcium according to age

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 64 Illustrated Baby Nelson

Hypophosphatemic Rickets
Renal Tubular Rickets
Rickets develop with renal tubular disorders due to either.
- Phosphaturia op serum phosphate o serum Ca: Ph ratio become inappropriate
for mineralization.
- Metabolic acidosis on bone resorption.
Types of renal tubular rickets:
1- Familial hypophosphatemia
2- Fanconi syndromes:
a. Primary
b. Secondary
- Cystinosis (Lignac syndrome)
- Oculo-cerebro-renal (Lowe’s syndrome)
- Galactosemia.
- Out dated tetracycline , mercury poisoning
3- Renal tubular acidosis
1- Familial hypophosphatemia 2- Fanconi syndrome (Idiopathic type)
Etiology Autosomal recessive disorder due to multiple
Sex linked dominant disorder defects in proximal renal tubules with p
Characterized by decrease renal tubular urinary reabsorption of phosphate,
reabsorption of phosphate o loss of bicarbonate & amino acids and may be
phosphate in urine potassium & glucoseo all are lost in urine
Clinical picture
- Rickets appear during the 2nd year of - Rickets (due to phosphaturia , acidosis)
life especially bow legs with - Vomiting (due to acidosis) & constipation
waddling gait and short stature. - Polyuria and polydipsia
- Delayed teething and tooth abscesses - Episodes of dehydration and fever
- No evident rosaries , muscle weakness - Muscle weakness
nor tetany - Growth retardation
- May be renal stones ( uric acid)
Laboratory
x p Ph. x Normal Calcium x No 2ry HPT x n Alk. Phosphatase
Others: Phosphaturia x n urinary Ph., bicarbonate & amino
acids (may be potassium & glucose)
x Metabolic acidosis

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 65 Illustrated Baby Nelson

Treatment
1. Oral phosphate 1 – 3 gm/day divided into 5 doses
2. Vitamin D:
Value :- Complete bone healing
- Offset 2ry HPT which usually accompany phosphate therapy.
Use: - Calcitriol (Calcitriol exerts negative feedback with PTH)
3. Oral bicarbonate for metabolic acidosis
4. Oral potassium for hypokalemia
5. Free access to water: 2-6 liters per day
(Nelson text book of pediatrics)
3- Lignac syndrome (cystinosis)
– Autosomal recessive intra celluar storage disease characterized by deposits of
cystine in lysosomes of liver, spleen, bone marrow, cornea & renal tutules o
Fanconi like.
x Clinical and laboratory features of Fanconi
Plus
x Blond hair and fair skin
x Photophobia
x Untreated cases end in chronic renal failure by 10 years
x Elevated leucocyte cystine level
x Detect cystine crystals in cornea by slit lamp
– Treatment: as Fanconi & mercaptamine (cysteamine) oral &
eye drops.
4- Lowe’s (oculo – cerebro – renal) syndrome
– Sex linked recessive disorder of eyes, cerebral cortex & renal tubules o Fanconi like
x Clinical and laboratory features of Fanconi
Plus
x Eye o cataract & congenital glaucoma (Buphthalmos).
x CNS o mental retardation & hypotonia

– Treatment: as Fanconi & treat associations

5- Renal tubular acidosis

– Mainly proximal renal tubules defect o bicarbonaturia o Metabolic acidosis
– Clinical picture, investigation & treatment o as Fanconi

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 66 Illustrated Baby Nelson

Conditions Resembling Rickets

1- Hypophosphatasia
* Due to : Decreased serum alkaline phosphatase enzyme
* Inheritance : Autosomal recessive disorders
* There may be n serum calcium
* Treatment : No specific treatment ; some cases may benefit from fresh plasma

2- Metaphyseal dysplasia
* Inheritance : - Autosomal dominant disorders
* Forms : - Jansen type
- Schmidt type
* Clinical picture : - Short stature.
- Bow legs with waddling gait.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 67 Illustrated Baby Nelson

Self Assessment Case Scenarios

Case 4
A 12 months old boy, presented to ER with severe respiratory distress. On examination he
has severe stridor with suprasternal and substernal retractions, cyanosis, and disturbed
conscious level. No history suggestive of foreign body inhalation .Further examination
reveals broad wrists and ankles, plantar flexion of feet and abnormal posture of both
hands.
a. What is the complication and the underlying disease?
b. What should be lines of treatment of presenting condition?

Case 5
A 14-month-old child has lower-extremity bowing, a waddling gait, genu varum, and is at
the 5th percentile for height. Laboratory data include normal serum calcium, moderately
low serum phosphate, and elevated serum alkaline phosphatase levels, hyperphosphaturia,
and normal parathyroid levels.
What is the most likely diagnosis?
A. Fanconi syndrome
B. Genetic primary hypophosphatemia
C. Malabsorption of vitamin D
D. Phosphate malabsorption
E. Renal osteodystrophy

Case 6
5-year-old girl is somewhat short and has mild leg bowing. Her medical history is
significant only for well-controlled seizure disorder. Serum calcium, phosphorus, and
alkaline phosphatase levels and urinary amino acid concentration are normal. A bone age
is notable for abnormal distal radius and ulna mineralization.
Which of the following is the most likely diagnosis?
A. Malabsorption syndrome
B. Fanconi syndrome
C. Genetic primary hypophosphatemia
D. Rickets associated with anticonvulsive drug use
E. Metaphyseal dysplasia

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
 ‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‪.‬‬
‫ﺩﻋﻮﺍﺗﻜﻢ‬ ‫ﺭﻓﻌﻪ ﺩ‪ .‬ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‪.‬‬

‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‪14‬‬
 ‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‪.‬‬
‫ﺩﻋﻮﺍﺗﻜﻢ‬ ‫ﺭﻓﻌﻪ ﺩ‪ .‬ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‪.‬‬

‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‪14‬‬

‫‪Genetic disorders‬‬
 ‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‪.‬‬
‫ﺩﻋﻮﺍﺗﻜﻢ‬ ‫ﺭﻓﻌﻪ ﺩ‪ .‬ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‪.‬‬

‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‪14‬‬
Page | 68 Illustrated Baby Nelson

Basics of Genetics
Chromosome structure
- Each chromosome is composed of 2 chromatides
- The 2 chromatides are connected to at the centromere
- Each chromosome has 2 short arms (p) & 2 long arms (q)
- Each chromatide is composed of DNA in a protein framework.

Chromosomal number
1. In somatic cells : 46 chromosomes (i.e. diploid number) ; 44 autosomes&
2 sex chromosomes; X X in females & X Y in males
2. In germ cells : 23 chromosomes (i.e. haploid number); 22 autosomes &
One sex chromosome(X in ovum and X or Y in sperm)
Mitotic Division
x Occur in all cells excepts CNS cells for renewal of cells & nnumber of cells
x Steps : Chromosomes arranged along the equatorial planeo Spindle protein
fibers radiate from the centrioles to the centromeres oEach chromosome
divide longitudinally into 2 daughter chromatides oEach set of chromatids
moves to each pole of the cell o2 daughter cells will form each contain 46
chromosomes (chromatids)
Meiotic Division
x Occur only in gonads for production of gametes (ova & sperms)
x Each gamete has a reduction of chromosomal number from 46 to 23
x Steps: Homologous chromosomes pair longitudinally (crossing over may
occurs between 2 homologous chromatides) o Spindle connects centrioles to
the centromereso Homologous chromosomes separate randomly to each
pole of the cello production of 2 cells; each has haploid number of
chromosomeso frequent mitosis follow on

Structure of the gene

- Part of DNA that code for synthesis of single
polypeptide chain.
- Every trait (character or feature) is determined
usually by 2 genes; one from each parent.
- If both genes are similar o Homozygous (e.g. AA or aa )
- If both genes are different o Heterozygous (e.g. A a )
x Dominant gene : Expresses itself whether in homozygous or
heterozygous state
x Recessive gene : Expresses itself only when homozygous

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 69 Illustrated Baby Nelson

Each DNA is composed of

a- Sugar (deoxyribose) & phosphate backbone.
b- Nitrogenous bases:
- Pyrimidines : cytosine (C)&thymidine (T)
- Purines : adenine (A) & guanine (G).
* A always pairs with T.
* C always pairs with G.
o Nucleotide is a unit of :
- One deoxyribose
- One phosphate group
- One nitrogenous base
o Each 3 successive nucleotides code for a specific amino acid

Gene Expression
Human gene is composed of
o Exons: Functional unit of gene sequences; coding for protein synthesis.
o Introns: Non coding DNA sequences of unknown function.
o Initiation codon: Specific sequence that determines initiation of protein
synthesis.
o Termination codon: Specific sequences (TAA, TAG or TGA) which
determine the end of transcription.
o TATAA and CCAAT boxes: Special sequences with unknown function,
but may direct the enzymes for initiation sites.
Initiation codon Exon Intron Exon Termination codon

‘3 CCAAT A ‘5
T
TATAA G
Control of gene expression
x Different cells have special functions due to different genes expression
x This can be achieved by methylation theory which states that: Parts
of the gene which is methylated tend to be non-functioning and
non-methylated parts tend to be functioning.
Types of DNA
o Non repetitive (unique) DNA - Code for mRNA
- Involved in protein synthesis
o Repetitive DNA - Repeated DNA sequences
- Not coding for genes
o Mitochondrial DNA - Circular , maternally inherited
- 2-10 copies of double stranded DNA

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 70 Illustrated Baby Nelson

DNA functions
A. Protein synthesis (see the figure below)
1. Transcription: synthesis of mRNA strand with the same sequence of DNA
strand.
2. Processing: the non coding segments (introns) of mRNA are removed and
the remaining parts are joined together to form a functional mRNA
3. Translation
o mRNA leave the nucleus & attach to the ribosomes in the cytoplasm
o When the ribosomal RNA comes in contact with that codon the tRNA with
specific anticodon complementary to it comes in place, leaving the specific
amino acid carried on it.
o The mRNA moves and brings another codon in contact with ribosome.
o Another tRNA comes in place and its amino acid attach to the first amino
acid.
o The process will continue until the whole polypeptide chain is formed

B. DNA replication (Duplication)

DNA can replicate itself (i.e. copy itself)
x Aim
- DNA repair itself to replace a missed or broken segments after
exposure to injurious agents e.g. irradiation
- Formation of a complementary strand during cell division
x How
DNA helix split o form two single strands o pairing of the new
complementary bases

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 71 Illustrated Baby Nelson

Modes of inheritance

i. Mendelian inheritance
1. Autosomal dominant (AD)
Criteria
o The trait manifest in homozygos or
heterozygous state

o Affected person has an affected parent

(vertical transmission)

o Disease is transmitted from the

affected person to ½ of his offspring

o Disease appear in all generations

o New mutation is common

o Examples
- Spherocytosis
- Von Willbrand disease

2. Autosomal recessive (AR)

Criteria
o The trait manifests only in
homozygous state

o Both parents are carrierso

Consanguious marriage increase the
incidence

o Offspring: ¼ free , ¼ affected and ½

are carriers

o Examples
- Thalassemia
- Inborn errors of metabolism e.g.
phenyleketonuria, albinism

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 72 Illustrated Baby Nelson

3. Sex- linked recessive (XR)

Criteria
o Affect all males carrying affected gene
while in females it appear only if
homozygous

o Female carriers have ½ of her sons

affected and ½ of her females carriers

o Affected father have all his females

carriers but there is no father - son
transmission

o Females may be affected if: affected

male marry carrier female or female
with only one copy of x chromosome
(Turner) or due to Lyonisation( random
inactivation of the sound X
chromosome leaving the other X chromosome unopposed).
o Examples:
- G6PD deficiency
- Heamophelia A
4. Sex linked dominant (XD)
Criteria
o All persons -whether male or female-
carrying the affected gene will express
the trait

o Affected father transmit the trait to all

daughters but never to this sons

o Affected mother transmit the trait to ½

of her offspring whether males or
females

o Example:
Familial hypophosphataemia

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 73 Illustrated Baby Nelson

ii. Non Mendelian modes of inheritance

A) Multifactorial inheritance
* Caused by a combination of inherited and environmental factors
* Risk of recurrence is increased when multiple family members are affected
and when the disease is severe
* Examples: - Cleft lip and cleft palate
- Congenital pyloric stenosis
- Diabetes mellitus
B) Non traditional modes of inheritance
1. Mitochondrial DNA mutations e.g. mitochondrial disorders
x Criteria
- Maternally inherited but affect both sexes
- Common manifestations: - Hypotonia, seizures, developmental delay
- Deafness and impaired vision
- Cardiomyopathy, diabetes mellitus
2. Genomic imprinting
x It is functional inactivation of a gene depending on the parent of origin
x Example: Prader Willi Syndrome/ Angelman Syndrome
- Both syndromes are associated with loss of the chromosomal region
15q11-13
- Paternal inheritance of a deletion of this region is associated with
Prader Willi Syndrome
- Maternal inheritance of the same deletion is associated with
Angelman Syndrome
Prader Willi Syndrome Angelman Syndrome

Mental retardation, hypotonia, Mental retardation, gelastic

hypogonadism, obesity, slender seizures, fair skin and hair and
fingers and short stature global developmental delay

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 74 Illustrated Baby Nelson

Mutation
Definition: A change in DNA sequence.
Types
1. Deletion mutation
One nucleotide is deleted
from the DNA code, changing the
amino acid sequence that follows

2. Insertion mutation
One nucleotide is added in
the DNA code, changing the
amino acid sequence that follows

3. Missense mutation
A nucleotide is replaced by
another one in the genetic code,
introducing an incorrect amino acid
into the protein sequence

4. Non sense mutation

A nucleotide is replaced by
another in the DNA code, signaling
the cell to shorten the protein

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 75 Illustrated Baby Nelson

5. Tandem repeat mutations

o A repeated trinucleotide
sequence adds a series of an
amino acid to the resulting
protein
o This expansion leads to gene
o Inactivation which increase with
increase size of the repeats
o The disease increase in severity
in subsequent generations
o Examples:
- Fragile X syndrome (CGG nucleotide repeats)
- Friedreich ataxia (GAA nucleotide repeats)

6. Duplication
A section of DNA is accidentally duplicated
when a chromosome is copied

Outcomes of mutations
x Silent mutation
x Gain of function mutation:
- Over expression of the gene product
- Most are autosomal dominant disorders
x Loss of function mutations:
- Under expression of geneo gene product is insufficient for normal
functions
- Most are autosomal recessive disorders.
x Mutations confer a novel property on the produced protein without altering
the normal function e.g. sickle cell disease.
x Oncogenes: mutations affecting normal regulators of cellular proliferations
causing cancer.
Diagnosis of mutation
By specific DNA probes using:
o Florescent In Situ Hybridization (FISH) technique or
o Polymerase Chain Reaction (PCR)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 76 Illustrated Baby Nelson

Chromosomal Analysis(Karyotyping)
Karyotyping: Systematic arrangement of the chromosomes of a single prepared
cell in pairs (according to the length) by photography
Preparation of study cells; cells can be obtained from:
1. Peripheral blood lymphocytes: Used for routine karyotyping.
2. Bone marrow: For rapid analysis and in leukemia.
3. Skin fibroblasts: In suspected mosaicism or if blood is not available
4. Amniotic fluid cells: Diagnose chromosomal anomalies in the 2nd trimester.
5. Chorionic villous sampling (CVS): Diagnose chromosomal anomalies in
the 1st trimester (at 10-12 weeks).
6. Fetal cells in maternal blood analysis using FISH technique (Recent)
Techniques
1. G-banding
* Chromosomes are stained in metaphase using Trypsin/Giemsa
stain o examined under light microscope
* Chromosomes appear as dark bands alternating with light bands.
2. High resolution banding
* As G-Banding but each band is subdivided into sub bands
Normal karyotyping
* Female: 46, XX
* Male : 46, XY
Indications of karyotyping
1. In neonate - Confirm clinical diagnosis.
- Dysmorphic features.
- Ambiguous genitalia.
- Major congenital malformations
2. In childhood - Females with unexplained short stature or growth retardation.
- Mental retardation of unknown origin.
- Delayed puberty.
3. In adults - Parents of child with chromosomal anomaly
- Parents with 2 or more abortions of unknown cause.
- Amniocentesis for mother with previous child with congenital
anomalies and mothers > 35 years old.
Classification of Chromosomes Chromosomes are classified regarding:
1- Size: short, medium sized, long.
2- Position of centromere:
* Metacentric o central centromere (p arm and q arm of almost equal size)
* Submetacentric o (p arm shorter than q arm).
* Acrocentric o centromere is close to one end (very short p, very long q)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 77 Illustrated Baby Nelson

Denver classification of chromosomes: (7 groups)

A 1, 2, 3 B 4, 5 C 6 o 12 & X

- Large - Large - Medium

- Metacentric - Submetacentric - Submetacentric

D 13, 14, 15 E 16, 17, 18 F 19, 20 G 21, 22, Y

- Medium - Short - Short. - Short.

- Acrocentric - submetacentric - Metacentric - Acrocentric

Chromosomal anomalies
A. Abnormalities of chromosome structure
1. Translocation (t)
Part of chromosome is broken and joined to another chromosome
a. Balanced : Pieces of chromosomes b. Unbalanced : occurs when a child
are rearranged but no genetic inherits a chromosome with extra
material is gained or lost in the or missing genetic material from
cell a parent with a balanced
translocation

2. Deletion (del)
* Part of the chromosome is broken & lost Ÿ gene loss.
* Example:
Cri du chat syndrome (deletion chr. 5 p):
- Mental retardation & miCrocephaly
- Cry like cats
- Congenital heart disease

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 78 Illustrated Baby Nelson

3. Isochromosome (i)
o Transverse division of the chromosome
instead of longitudinal division
o Resulting in 2 chromosomes with two
identical arms, either two short (p) arms or
two long (q) arms

4. Inversion (inv)
o Occur when a chromosome breaks in two
places and the resulting piece of DNA is
reversed and re-inserted into the
chromosome.
o Inversions that involve the centromere are
called pericentric inversions
o Inversions that do not involve the
centromere are called paracentric
inversions

5. Ring chromosome (r)

o Breaks at both ends of a chromosome with
subsequent end to end rejoining
o Often cause growth retardation
and mental handicap.

6. Duplication (dup)
* A duplication occurs when part of a
chromosome is copied (duplicated)
abnormally, resulting in extra genetic
material from the duplicated segment

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 79 Illustrated Baby Nelson

B. Abnormalities of chromosome number (Numerical anomalies)

1. Euploidy cells containing normal number of chromosome(23 pair)
2. Polyploidy
Extra whole sets of chromosomes:
e.g. Triploidy 69, XXX; (lethal)

3. Aneuploidy: Missing or extra individual chromosomes

a. Monosomy: only one copy of a particular chromosome (most are aborted).
b. Trisomy: three copies of a particular chromosome

4. Mosiacism
x The presence of two or more different
chromosome counts in different cells
of the same individual
x Karyotyping of skin fibroblast help
establish diagnosis as, unlike most
cells, it withstand mosiacism

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 80 Illustrated Baby Nelson

Turner Syndrome
Etiology
1- Classic form (45, X0) Ÿ Monosomy X-chromosome
2- Deletion of short arm of one X-chromosome.
3- Turner mosaic: - 45 X0 / 46 X X
Clinical picture
A. At birth

x Low birth weight

x Loose skin at neck
nape

x Transient lymphoedema in
dorsa of hands & feet
B.Later on

x Short female with normal mentality

x Wide carrying angle at elbow

x Low posterior hair line x Wide spaced nipples x Neck webbing

Diagnosis
1. For diagnosis: routine karyotyping
Karyotyping of skin fibroblast can confirm mosaic Turner

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 81 Illustrated Baby Nelson

2. For associations:
R Echocardiography: for associated congenital heart disease: Aortic
coarctation
R Abdominal ultrasound: for ovarian dysgenesis (streak gonads) /Renal
anomalies
Treatment
R Growth hormone
R Estrogen replacement at 14-15 years
R Specialty consultation e.g. ENT for recurrent otitis media

Kleinfelter Syndrome

Etiology
- Extra X-chromosome in a male (47, XXY) due to non disjunction.
- May be many X -chromosomes e.g. 48, XXXY, …..

Clinical picture
 Mental retardation
 Gyneacomastia
 Diminished facial hair, feminine fat distribution.
 Atrophic testis with azospermia
 Tall stature
Diagnosis
1. Karyotyping: diagnostic (47, XXY)
2. Hormonal assay

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 82 Illustrated Baby Nelson

Down Syndrome

Definition: Numerical autosomal disorder (1:700 live births) Due to Trisomy 21

The extra chromosome 21 is due to
x Non disjunction occurring during gametogenesis ( 95% of cases)
x Translocation of an extra long arm of chromosome 21 (4% of cases)
x Mosiacism due to non disjunction occurring post fertilization (1% of cases)
Clinical picture
1. Delayed mental milestones o Mental retardation
2. Delayed motor milestones: hypotonia o hyperflexible joints; Acrobat sign.
3. Head:
x Mild microcephaly x Wide posterior fontanel (at birth)
x Brachycephaly (short anteroposteriorly) x Large anterior fontanels

x Fine silky hair

x Small nose with
x Low set ears
depressed bridge

x Hypertelorism
x Small mouth
x Epicanthal fold
x Protruding, fissured
x Upward slant of eyes
(scrotal) tongue in a
child > 6 yrs x Bruchfield spots (speckled
x Delayed teething iris)

4. Heart
x Congenital heart disease in about 50% of cases
x Endocardial cushion defect and VSD
5. Abdomen
x Distended with umbilical hernia
x Visceroptosis
6. Genitalia
x Small sized (hypogonadism)
x Undescended testis is frequent

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 83 Illustrated Baby Nelson

7. Hands
x Short & broad hands
x Simian crease : one transverse crease
x Clinodactyly : incurved little finger
due to rudiment middle phalanx

8. Feet
x Short & broad feet

x Wide gap between the

x Leading crease (Ape crease). first and second toes

Co morbidities/complications
1. Immunodeficiency o recurrent infections o chest, serous otitis media
2. Neurological: - Mental retardationo accidental trauma
- Atlanto axial instability with risk of spinal cord injury
- Autism spectrum disorders, early Alzheimer
- Strabismus, cataracts, nystagmus
3. Cardiac: Congenital heart disease o recurrent heart failure& chest infection
4. Respiratory: - Recurrent chest infections
- Obstructive sleep apnea.
5. Renal anomalies.
6. Hematological: Acute leukemia (20 times more common).
7. Auto immune endocrinopathies
- Hypothyroidism
- Diabetes mellitus
- Addison disease
8. Gastrointestinal
o Anomalies
- Doudenal atresia
- Hirschsprung disease.
- Imporforate anus
o Celiac disease

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 84 Illustrated Baby Nelson

Chromosomal Makeup of Down syndrome

Non disjunction (Regular Mongle )
Mechanism
x Failure of the two chromosomes 21 to disjoin normally as it should be during
gametogenesis (meiosis)ĺ3URGXFWLRQRIJDPHWHZLWKDQH[WUDFKURPRVRPH
x This extra chromosome is maternal in 97% of cases
x Recurrence rate increases with increasing maternal age (1/100 if age > 35 years)
x Baby karyotype :47 XX (+ 21) or 47 XY (+ 21); no role for parental karyotyping

Parents Chromosomes 21

Non disjunction

Gametes

Offspring

Trisomy 21 Monosomy 21(aborted)

Mosiac Down syndrome

Mechanism
x Non disjunction occurring post 46 46
Parents
fertilization
Gametes 23 23
x If occurred in the 1st mitotic Fertilization
divisionĺ 2 cell lines: 47, (+ 21) +
45, (- 21) 46
x If occurred in the 2nd mitotic
divisionĺ 3 cell lines: 47, (+ 21) + Non disjunction in 1st
Cells with Cells missing
mitotic division
45,(- 21) + 46 extra copy a copy of
x The patient may not show all chr 21 47 45 chr 21
features of mongolism

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 85 Illustrated Baby Nelson

Translocation Down syndrome

Mechanism
* Chromosome 21 is translocated onto another acrocentric (14, 15, 21, 22)
* The short arms of the acrocentric chromosomes contain no essential genetic material
& being very short, they are easily losto The long arms of two acrocentric
chromosomes may fuse together making one long chromosome without genetic loss.
* If translocation occur in a parent cells o he’s a balanced translocation carrier.
Recurrence rate
i Outcomes of translocation between chromosome 21 & 14, 15, or 22:
1. Abortions 3. Down syndrome
2. Balanced translocation carrier 4. Normal
i Outcomes of translocation between chromosomes 21 & 21
1. Abortions 2. Down syndrome
Examples
If translocation between If translocation between 21 & 21
21 & 14 or 15 or 22

14 14 21 21
Parents 21 21 21
21

Balanced translocation carrier Normal

Gametes

23 chr
23 chr 22 chr

Down Monosomy 21
Normal Balanced
Down Down Trisomy 14 Not viable
translocation
carrier Not viable
Offspring

Chromosomal study
* For baby o e.g. 46, XX, (t 21q / 14q) or 46, XY, (t 21q / 14q).
* For parents o may show balanced translocation carrier.
e.g. Balanced translocation carrier mother : 45 ,XX ,(t 21q / 14q)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 86 Illustrated Baby Nelson

Investigations
A- Prenatal diagnosis
1- Integrated Screening can detect up to 95% Down syndrome pregnancies
using:
o Maternal age
o u Fetal nuchal translucency (NT) thickness
o vPregnancy Associated Plasma Protein A
o Quad screen : Maternal blood shows
- v D feto protein
- v Unconjugated estriol
- u Free E human chorionic gonadotropin ȕ-hCG)
- u Inhibin (Nelson text book)
2- Karyotyping for maternal amniotic fluid cells or chorionic villous sample
B. Postnatal diagnosis
1. Clinical: None of the clinical features is specific to Down syndrome but
the associations of multiple features is usually diagnostic
2. Karyotyping
a. For the baby to:
- Confirm Down syndrome
- Decide the type of Down syndrome and then the risk of recurrence
b. For the parents if the baby translocation type
Health supervision of Down syndrome
o Multidisciplinary care approach is the mainstay for managment
o Screen for and manage complications
Condition Time to screen
x Congenital heart disease - At birth and young adult for acquired valve disease
x Strabismus, cataracts, - Birth or by 6 mo; by pediatric ophthalmologist
nystagmus - Check vision annually
x Hearing impairment or loss - Birth or by 3 mo with auditory brainstem response or
otoacoustic emission testing
- Check hearing q6mo -1 year
x Celiac disease - At 2 years or with symptoms(IgA and tissue
transglutaminase antibodies)
x Hypothyroidism - Birth; repeat at 6-12 mo and annually
x Obstructive sleep apnea - Start at yr and at each visit
଩X
- Monitor for snoring, restless sleep
x Atlantoaxial subluxation or - Radiographs at 3-5 years or when planning to
instability (incidence 10-30%) participate in contact sports, diving, swimming
- Radiographs indicated wherever neurologic symptoms
are present even if transient (neck pain, torticollis, gait
disturbances, weakness)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 87 Illustrated Baby Nelson

Other Trisomies
Trisomy 18 Trisomy 13
(Edward’s Syndrome) (Patau syndrome)
Incidence 1/7000 live births 1/10.000
Karyotyping 47, +18 47, +13
Clinical picture
a. Common features:
- Growth retardation
- Microcephaly and Mental retardation
- Dysmorphic face
- Congenital heart diseases ( VSD, PDA , ASD)
- Visceral anomalies
- Most die in the 1st year of life
b. Specific features:
* Prominent occiput.

* Scalp defects(cutis aplasia)

* Brain malformations
* Hypertonia with Closed fist
and overlapping fingers

* Cleft lip and palate

* Rocker bottom heel

* Polydactyly

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 88 Illustrated Baby Nelson

Self-Assessment Case Scenarios

Case 1
15 years old girl presented to outpatient clinic for routine check ;she have not got menses
yet, her height was 125 cm(< 3 rd percentile), no physical signs of puberty, with unusual
facial appearance unlike her parents and her siblings; cardiac auscultation showed ejection
systolic murmur over left sternal border. She is doing well in school and thyroid profile is
normal.
a. Suggest a diagnosis?
b. How can you confirm diagnosis?

Case 2
A two day old male infant is referred from a community hospital for bilious vomiting and
a heart murmur. The baby was born at 37 weeks gestation to a 39 year old woman who
had no prenatal care. Exam: vital signs Temp 37.1 (ax), Pulse 150, Respiratory rate 45, BP
75/50, oxygen saturation 99% in room air. Height, weight and head circumference are at
the 50th percentile. He appears jaundiced, and has a flat facial profile; short, upslanting
palpebral fissures; a flat nasal bridge with epicanthal folds; a small mouth with protruding
tongue; and single palmar creases. His lungs are clear to auscultation. His heart is
tachycardic with a loud holosystolic murmur. His abdomen is non-distended. Generalized
hypotonia is present. An abdominal radiograph shows a "double-bubble sign".
a. What is the most likely clinical syndrome?
b. What are the current co morbidities?
c. What are immediate lines of treatment?
d. Other workup?
Case 3
A 7-year-old patient who has Down syndrome is brought to the clinic by her mother, who
is worried that the child has an increasingly abnormal gait and worsening clumsiness. On
physical examination today, you note that she has an unsteady gait, and she has brisk deep
tendon reflexes diffusely. These findings represent a significant change from 9 months ago
when your neurologic examination showed only slightly diminished tone.
What the most likely cause of these symptoms and signs?
Case 4
A 7-year-old patient who has Down syndrome is brought to the clinic by her mother, who
is worried that the child has an increasing pallor ,lethargy and abdominal distension.
Examination revealed few purpuric spots, bilateral axillary and cervical lymph nodes
enlargement and significant hepatosplenomegaly
What is the likely diagnosis? Two investigations required?

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
 ‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‪.‬‬
‫ﺩﻋﻮﺍﺗﻜﻢ‬ ‫ﺭﻓﻌﻪ ﺩ‪ .‬ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‪.‬‬

‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‪14‬‬
 ‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‪.‬‬
‫ﺩﻋﻮﺍﺗﻜﻢ‬ ‫ﺭﻓﻌﻪ ﺩ‪ .‬ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‪.‬‬

‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‪14‬‬

‫‪Diarrheal disorders‬‬
Page | 89 Illustrated Baby Nelson

Diarrheal Disorders
Definition of diarrhea
* WHO defines diarrhea as: the increase of volume, fluidity, or frequency of
motions relative to the usual pattern of the individual
Classification of diarrhea
i. Acute Diarrhea : - Starts acutely
- Watery without visible blood
- Last less than 14 days.
(Dysentery is acute diarrhea with visible blood in stool)
ii. Persistent diarrhea: Started as acute diarrhea (watery or dysentery) but
persists more than 14 days
iii. Chronic diarrhea: - 'LDUUKHDRIJUDGXDORQVHWODVWLQJ•PRQWKor
recurrent due to non infectious cause

Mechanisms of Diarrhea
A. Enteric infection
1. Type I: Non-inflammatory
o Due to
a. Superficial mucosal invasion due to:
- Viral e.g. Rota virus
- Bacterial e.g. Enteroinvasive E. coli, Campylobacter
b. Mucosal adhesion by e.g. Enteropathogenic E. coli ,Giardia lambelia
Mechanism
Superficial invasion or adherence of the absorptive
villi cells with intact secretory crypt cells o crypt cells
continue secretions with impaired villi cells absorption
c. Entero toxin production
Example: Enterotoxigenic E coli, and vibrio Cholera
Mechanism
Enterotoxin stimulates adenyle cyclase enzyme in crypt cells o
excessive cyclic AMP productiono excessive intestinal secretions
o Location of enteric infection: Proximal small bowel
o Illness : Watery diarrhea (Secretory diarrhea)
o Stool exam : No fecal leukocytes
2. Type II: Inflammatory
o Due to: Mucosal invasion and cytotoxin production
o Illness :Dysentery
o Location: Colon
o Stool exam : Fecal neutrophils and ĹĹ/DFWRIHUULQ

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 90 Illustrated Baby Nelson

3. Type III: Penetrating

o Due to: Penetration by Salmonella typhi and para typhi, Yersinia
enterocolitica
o Illness : Enteric fever
o Location: Distal small bowel
o Stool exam : Fecal mononuclear leukocytes
(Nelson text book of pediatrics, 2016)
B. Osmotic diarrhea
Intestinal villi damage leads to loss of disaccharidases (e.g. lactase) o
accumulation of non-absorbable solutes in intestinal lumen o osmotic
load o shift of water to the intestinal lumeno diarrhea
Differences between secretory and osmotic diarrhea
Secretory diarrhea Osmotic diarrhea
Volume Large Small
Effect of fasting Diarrhea continues Diarrhea stop
Food type Unrelated Usually related.
Stool analysis
- Stool pH Alkaline Acidic
- Reducing substance Absent May be present
- Fecal sodium& chloride High Low

Acute non infectious diarrhea

1. Dietitic
o Over feeding
o Under feeding: Starvation diarrhea (scanty, greenish, Ĺmucus)
o Bad feeding: - Change in formula type or concentration
- Introduction of new unsuitable food.
o Lienteric diarrhea: Hyperactive gastro-colic reflex o motion short after every
feed
2. Drugs
o Prolonged oral antibiotics (e.g. ampicillin)
o Laxatives to the baby or to lactating mother.

3. Parentral diarrhea (2ry gastro enteritis).

o Due to infections outside GIT e.g. otitis media, respiratory infections.
o Possible mechanisms; toxic absorption or reflex gastro intestinal irritation
o The term parenteral diarrhea is no longer used due to possible intestinal
infection.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 91 Illustrated Baby Nelson

Acute infectious diarrhea (Gastro Enteritis)

Gastroenteritis is due to infection acquired through the fecal-oral route or by
ingestion of contaminated food or water
Severity
* Mild = 4-6 motions /day
* Moderate = 6-10 motions /day
* Severe > 10 motions /day
Causes of Gastroenteritis
1. Viral (60%)
Examples
- Rota virus.
- Norwalk like viruses
- Adenovirus
Clinical features
- Age usually less than 2 years.
- Common in winter
- May be associated upper respiratory tract infections
- Pyrexia if present usually (< 38.5 qC).
- Diarrhea is: - Mild to moderate.
- Transient = (5-7 days)
- Watery
- Odorless
2. Bacterial
Clinical features
- Common in summer
- With high fever (>38.5 oC)
- Cramping abdominal pain
- Usually severe diarrhea which may be:-
* Bloody with: - Salmonella
- Shigella desentyrie type 1.
- Entero invasive E-Coli.
- Entero hemorrhagic (Shiga toxin producing) E-Coli
* Watery
- Shigella (diarrheal type)
- Entero pathogenic E-Coli
- Entero toxigenic E-Coli
- Vibrio cholerae O1.
* Watery offensive for 2-4 days then turn bloody o Campylobacter jejuni.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 92 Illustrated Baby Nelson

3. Protozoal
x Giardia Lambelia
- Watery
- Offensive
- No fever
x Entameaba histolytica
- Bloody, may be with tenesmus
- No fever usually
Complications of Gastroenteritis
1. Dehydration
x Fluid loss due to vomiting, diarrhea and anorexia (see later)
x The main cause of death in gastroenteritis
2. Shock
Types
x Hypovolemic shock with severe dehydration
x Gram negative septic shock.
Clinically
x Decreased peripheral perfusion
o Skin mottling , capillary refill time >2 secondsȹ
o Cold extremities
x Decreased vital organs perfusion
o Brain o lethargy
o Kidney o oliguria
x Hypotension and rapid thready pulse
3. Acute renal failure (ARF)
Due to
x Hypovolemia o p renal blood flow (pre renal failure).
x Untreated pre renal failure o tubular necrosis o intrinsic renal failure
Clinically
o Oliguria or anuria
o Acidotic breathing (Rapid, deep breathing).
4. Metabolic Acidosis
Due to
x Loss of bicarbonate in the stool
x Acute renal failure
Clinically
o Acidotic breathing (rapid deep breathing pattern)
o Disturbed consciousness.
o Arterial blood gases (ppH, pPaCO2, pHCO3)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 93 Illustrated Baby Nelson

5. Electrolyte disturbance
x Hypokalemia: (serum potassium < 3 meq /L)
Clinically - Apathy (disturbed consciousness)
- Arrhythmias
- Abdominal distension (paralytic ileus)
- Atony (Hypotonia).
x Hypocalcemia: o Tetany or Convulsions
x Hypo or hyper natremia: o Convulsions
6. Convulsions o possible causes:
x Hypoglycemia ; mainly in mal nourished.
x Hypo or Hypernatremia.
x Hypocalcemia
x CNS infections e.g. meningitis or encephalitis may due to shigella or
neurotropic virus
7. Bleeding
Possible causes Clinically
DIC
due to shock, sepsis or acidosis - Bleeding tendency ;initially from puncture
- Skin gangrene
Intussusception
Part of the intestine invaginates - Attacks of abdominal pain (screaming)
in the distal part - Vomiting with constipation
- Redcurrant jelly stool
- Sausage shaped abdominal mass
- P/R o head of intussuceptum may be felt
- Ultrasonography is diagnostic & safe
- Air contrast enema o can be therapeutic

Renal vein thrombosis

due to severe dehydration o - Hematuria
hypovolemia o venous stasis - Flank (Renal) mass
- If bilateral o acute renal failure
8. Persistant diarrhea and eventual Malnutration

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 94 Illustrated Baby Nelson

Workup of Gastroenteritis
1. For the cause
- Stool analysis for blood, fecal leucocytes , Rotazyme test,parasites
- Stool culture
2. For the complications (more important)
- Routine: Blood urea nitrogen, creatinine, sodium ,potassium, and calcium.
- Blood gases o for metabolic acidosis.
- Coagulation profile o PT, PTT, FDPs, platelets for bleeding
- Others: According to clinical suspicion e.g. Abdominal ultrasound /X ray
Treatment of Gastroenteritis
x GE with no or minimal dehydration (plan A):Home management
1. Fluid therapy
Avoid dehydration by plenty of fluid:
x Use oral rehydration solution (ORS).
x Amount of ORS:
Weight ORS amount after each loose motion or vomiting episode
< 10 kg 60-120 ml
> 10 kg 120-240 ml
x Food based fluids for infants > 6months or weaned:
- Rice water, soup, and yogurt drinks
- Avoid hyperosmolar fluids as it increases the diarrhea
2. Feeding to avoid malnutrition
x Continue breast feeding or usual milk formula
x For infants > 6months, give: mashed potatoes, cereals, and BART
(Banana, Apple juice, Rice, Toast)
3. Follow up and medical advice if
x No improvement for 3-5 days
x Presence of a warning sign: (Reminder: Bloody FEVER)
- Bloody motions.
- High Fever.
- Eager to drink (Marked thirst)
- Frequent Vomiting.
- Excessive watery motions
- Refusal of oral fluids or feeding.
x GE with dehydration (plan B & C) Ÿ See dehydration
x Antibiotics

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 95 Illustrated Baby Nelson

* Indications : - If bacterial cause is identified or strongly suspected.

- Associated bacterial infection (e.g. otitis media)
( Fever per se is not an indication for antimicrobial therapy)
x Anti-parasitic
* Entameoba histolytica : Metronidazole 50 mg/kg /day for 10 days oral.
* Giardia lambelia : Metronidazole 15 mg/kg for 7 days.
x Treatment of complications e.g.
o Acute renal failure o Usually pre renal responds to rehydration /
consult pediatric nephrologist in unresponsive cases
o Hypocalcemia o Calcium gluconate 10% slow i.v.
o Hypokalemia o Add potassium to the IV fluids
o Convulsions: - Anticonvulsants (e.g. Diazepam) and treat the cause.
x Additional therapy:
o Probiotics : non pathogenic bacteria e.g. lactobacillus .
o Oral Zinc 10 - 20mg /day
x Prevention of gastroenteritis
o Promote exclusive breast feeding for the first 6 months and continued
during illness including diarrhea
o Proper weaning
o Rota virus (Rotarix)vaccines
o Hygienic measures

Dysentery

Acute diarrhea with visible blood in the stool

Causes
1- Shigella Desentyrie (commonest cause).
2- Enteroinvasive E.coli and Entero hemorrhagic E- coli (O157:H7)
3- Campylobacter jejuni.
4- Salmonella (rare).
5-Entamoeba histolytica (uncommon before 5 years old)
Clinical picture
1- Acute bloody diarrhea with mucus & pus
2- Severe crampy abdominal pain
3- Tenesmus (painful defecation)
4- Pyrexia / dehydration/ toxic manifestations

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 96 Illustrated Baby Nelson

Complications
1. As for acute diarrhea
2. Hemolytic uremic syndrome ; associated with Shiga toxin (or Verotoxin
producing entero hemorrhagic E- coli and Shigella
Differential diagnosis
1. Intestinal obstruction e.g. Inussuception and volvolus
2. Ulcerative colitis
Investigations
- Stool analysis
- Stool culture
- CBC and blood urea and electrolytes
Treatment
* Supportive : As for acute diarrhea ; Fluid therapy , Feeding , Follow up
* Treat complications
* Treat the cause

Persistent Diarrhea (post gastro enteritis syndrome)

Definition
- Acute diarrhea (watery or dysentery) which persists more than 14 days
- About 10% of acute diarrhea progress to persistent diarrhea
- Persistent diarrhea carries high risk of malnutrition and high mortality
Etiology
1. Persistent infection e.g. Giardia lamblia, salmonella
2. Post-enteritis malabsorption:
Damaged villi cells with 2ry dissacharidase deficiency:
x Lactase deficiencyĺ Lactose intolerance (diarrhea which increases
with lactose containing milks)
x Invertase deficiency ĺSucrose intolerance (diarrhea which increases
with sucrose containing milks)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 97 Illustrated Baby Nelson

Dehydration
Introduction
Body water is distributed as

2/3 Intracellular fluid(ICF) 1/3 Extracllular fluid (ECF)

Intra vascualr Extra vascular

Plasma Luminal Interstitial fluid

Intracellular electrolytes Extracellular electrolytes in meq/l
Main cation Main anions Cations Anions
Potassium (K ) Phosphate Na 135-145 CL 105
Proteinate K 3.5-5 HCO3 26
Ca 9-11 (mg/dl)
Mg 1.5 – 2.5
Q Infants are more susceptible to dehydration than adults, why?
- Higher total body water; 75% of body weight in contrast to 60 % in adults .
- Higher daily requirements of water in (150 ml /kg/d)
- Higher frequency of diarrheal diseases

Definition
Dehydration means loss of water & electrolytes from ECF ; The ICF may be
secondarily affected.
Etiology
1. Diarrheal diseases
2. Others : - Decreased intake e.g. starvation, coma , poor hydration in illnesses
- Vomiting e.g. Congenital pyloric stenosis, intestinal obstruction.
- Hyperventilation.
- Burn
- Fevers and hyperprexia
- Excessive sweating
- Polyuria e.g. diabetes mellitus, diabetes insipidus, chronic renal
failure, hypercalcemia , diuretics overuse
Degrees of dehydration
1. According to degree of body weight loss (Relative to pre illness weight)
Dehydration Body weight loss Clinically
Minimal or absent < 3% Few or absent signs of dehydration
Mild to Moderate 4-9% Typical picture of dehydration
Severe • 10% Hypovolemic shock

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 98 Illustrated Baby Nelson

2. According to WHO guidelines

Plan A Plan B Plan C
Definition No dehydration Mild to moderate Severe dehydration
dehydration.
General Normal, alert Irritable, restless Shockedohypotension,n pulse
appearance No shock No shock o lethargy, oliguria
o cold mottled skin.
Eyes o look Normal Slightly sunken Deeply sunken.
o tears Present Decreased Absent
Moutho tongue Moist Dry Very dry (parched)
o thirst Absent Drinks eagerly Unable to drink.
Skin pinch Normal Goes back slowly Goes back very slowly
(Turgor) Instant recoil Recoil in <2 sec Recoil in >2 sec
Fontanel Normal Depressed Depressed
N.B : - Key signs of dehydration include: general appearance, thirst, & poor skin pinch.
- 2 or more signs including at least 1 key sign should exist to assign certain plan
Types of dehydration
Hypotonic(Hyponatremic). Isotonic(Isonatermic) Hypertonic(Hypernatremic)
Serum Na < 130 meq/ L 130 - 150 meq/ L > 150 meq/ L
A/E: Excessive intake of Equal loss of water and Excessive intake of hypertonic
water or hypotonic fluids electrolytes leading to:- fluids during diarrhea o poor
during diarrhea o loss of absorption on osmosis o loss
electrolytes > loss of water o Normal cellular of water > electrolytes loss
o Overhydrated cells hydration o Dehydrated cells
o Marked collapse of ECF o Collapsed ECF o Normal ECF
Clinical features
Manifestations of ICF affection
Tongue: - Moist - Dry; thirsty - Very dry (woody); marked thirst
Brain: - Lethargy - Irritable - Irritable
- Coma - Hyper-reflexia
- Convulsions - Convulsions
Manifestations of ECF affection
Shock
- Rapidly occurring - Slowly occurring - Usually absent
Skin turgor
- Marked loss - Moderate loss - Normal (or doughy)
Fontanels
- Markedly depressed - Moderately depressed - Normal or bulging
Eyes
- Markedly sunken - Moderately - Mildly sunken

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 99 Illustrated Baby Nelson

Complications of dehydration
Complications of gastro enteritis plus
x Hemoconcentration o phlebothrombosis especially in cortical & renal veins.
x Hypokalemia o DJJUDYDWHGE\UDSLGFRUUHFWLRQRIDFLGRVLVĺLQWUDFHOOXODU
shift of potassium
x Hyperkalemia :
- Aggravated by: Acidosis and excessive potassium infusion in presence of
renal impairment.
- Manifested by: - Restlessness
- Cardiac arrhythmias (bradycardia, cardiac arrest)
(N.B: Potassium disorders are readily detectable by ECG)
x Hypernatremic dehydration hazards:
1. Seizures may be due to:
* Intracranial hemorrhage: Brain cells dehydration oĻEUDLQYROXPHo
tear of intracerebral & bridging blood vessels.
* Rapid lowering of serum Na o brain cells overhydration o brain edema.
* Associated Hypocalcemia is common.
2. Renal tubular injury o acute renal failure

Treatment of dehydration
I. Mild to moderate dehydration (Plan B dehydration)
n Deficit therapy
x Fluid type "ĺ Oral rehydration solution (ORS)
x Amount ? ĺ 50-100 ml/kg over 4 hours (if child wants more, give more)
x 5RXWH"ĺ One tea spoonful/1-2 minutes orally
Problems during deficit therapy
Problem Management
x Vomiting * Wait 10 minutes
* ORS is given at slower rate (spoon / 2-3 minutes)
x Refusal of ORS * ORS can be given more slow by nasogastric tube
x Frequent vomiting
x Coma * Deficit therapy is given parenterally ( IV)
x Persistent vomiting x Amount of fluid: 50-100 ml/kg
x Abdominal distension x Type of fluid:
x Paralytic ileus. - Poly electrolyte solution (Polyvalent) or
x Rapid loss of stool - Glucose: Saline mixtures : 5% dextrose in ½
Normal saline
(Nelson text book of pediatrics)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 100 Illustrated Baby Nelson

o Feeding
* Breast fed o continue
* Non breast fed o give usual formula after the first 4 hours
* If child > 6 months or weaned o give plenty of fluid and food as in plan A.
p Assessment after deficit
x Good response
* Criteria: - No signs of dehydration
- Baby fall asleep
- Pass urine
* Decision: Continue replacement as for plan A(see before)
x Still dehydrated ĺ5HSHDWWKHGHILFLW therapy
x Worsening (Severe GHK\GUDWLRQĺTreat as plan C
II . Severe dehydration (Plan C dehydration)
n Shock therapy
x Fluid type "ĺ lactated Ringer (or physiological saline).
x Amount ? ĺ20 ml/kg over ½- 1 hour
x Route "ĺ3DUHQWHUDOLQWUDYHQRXVRULQWUDRVVHXV
After shock therapy
x Good response
• Criteria: - Improved mental state
- Improved perfusion
- Able to drink
• Decision: Treat as for mild to moderate dehydration (R/ Deficit Therapy)
Give 100 ml/kg of previous fluids over 4 hours
x Still shocked
• Criteria: Lethargic, weak pulse, poor capillary refill
• Decision: - Repeat shock therapy.
o Assessment
After 6 hours in infants<1 year and after 3 hours in older child
Finding Decision
Severe dehydration - Restart rehydration therapy as for plan C
- Think of and treat complications
Mild to moderate dehydration - Continue as plan B
No signs of dehydration - Continue as plan A
p Feeding Ÿ As in plan B
Don’t forget: Specific treatment (e.g. Antibiotics) and treat complications

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 101 Illustrated Baby Nelson

Precautions during hypernatremic dehydration treatment

x Type of fluid: Glucose 5% in ½ normal saline
x Under correction o water deficit should be replaced over more than 36 hours
x Slow correction o Reduce serum Na by no more than 0.5 mEq/L per hour
x Monitor serum Na & Ca closely during treatment.
x If convulsions occur during treatment o treat the cause:
* Rapid lowering of Na o NaCl 3% 2-4 ml/kg very slow i.v
* Hypocalcemia o Ca gluconate 10% 1-2 ml/kg very slow i.v
* Brain edema (due to rapid or over hydration) o mannitol 20% over 20min.

(See Prevention and treatment of viral gastroenteritis in children, UpToDate)

Oral rehydration solution (ORS)
* Mechanism of ORS o co absorption of Na & glucose or certain amino acids
even via damaged intestinal mucosa o other electrolytes esp. Chloride are
absorbed 2ry to Na.
1. Standard ORS(Rehydran sachets)
x Rehydran sachets: each sachet contain:-
- Sodium chloride 0.7 Gram
- Sodium citrate 0.5 Gram
- Potassium chloride 0.3 Gram
- Glucose 4 Gram
Each sachet is dissolved in 200 ml clean water
x WHO ORS o Contains same ratios as Rehydran ; dissolved in 1 liter
2. Other types of ORS:
x Lohydran o With lower sodium chloride content
x ReSoMal: - ORS containing less Na , more K with added magnesium & zinc.
- Mainly for rehydration of severely malnourished infants.
Advantage of ORS Limitations of ORS
Fit for Not fit for
x All types of dehydration x Shocked cases (unable to drink)
x Any age even the newborn x If intra venous fluids are indicated
x Any type of diarrhea x Glucose malabsorption (rare)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 102 Illustrated Baby Nelson

Malabsorption Syndrome
Definition
- Diminished intestinal absorption of one or more dietary nutrients
- Due to either defective nutrient digestion or mucosal absorption
- Steatorrhea o with fat malabsorption = pale, bulky, greasy, offensive stool
Etiology
1- Impaired digestion
* Hepatic - Biliary atresia (bile salt insufficiency)
- Chronic hepatitis
* Pancreatic: - Prolonged protein calorie malnutrition
- Cystic fibrosis
- Chronic pancreatitis
- Shwachman-Diamond syndrome
2- Intestinal stasis - Protein caloric malnutrition (acini atrophy).
- Stagnant loop syndrome.
- Inflammatory bowel diseases: - Crohns’ disease
- Ulcerative colitis
3- Impaired absorption
a. Generalized malabsorption:
ƒ Chronic infections: e.g. giardia lamblia, tuberculous enteritis , bilharziasis
ƒ Congenital: chloride diarrhea, sodium diarrhea
ƒ Defective enterocyte differentiation: microvillous inclusion disease, congenital
tufting enteropathy
ƒ Short bowel syndrome
ƒ Celiac disease
ƒ Auto immune entropathy
ƒ Allergy: Multiple food protein hypersensitivity
ƒ Intestinal tumors
b. Specific malabsorption:
Type Example
Specific carbohydrate malabsorption - Lactose malabsorption
- Glucose galactose malabsorption
- Fructose intolerance
Specific fat malabsorption - Abetalipoproteinemia
Specific amino acids malabsorption - Enterokinase enzyme deficiency
- Hartnup disease(neutral amino acids)
- Blue diaper syndrome(tryptophan)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 103 Illustrated Baby Nelson

Type Example
Specific vitamin malabsorption - Vitamin D , folic acid , B12
Specific mineral malabsorption - Acrodermatitis enteropathica(zinc)
- Menkes disease (copper)
Clinical picture
1- Features suggesting a cause e.g.- Hepatomegaly & jaundice in chronic liver disease.
- Relation to certain food in celiac disease.
2- General ill health with pallor, weakness & failure to thrive
3- Gastrointestinal manifestations of malabsorption
x Mouth ulcers & glossitis
x Abdominal distension & flatulence
x Steatorrhea : pale, bulky, greasy, offensive stool
x Chronic diarrhea
4- Nutritional deficiency manifestations
x Fat : Loss of subcutaneous fat
x Proteins: Nutritional edema , muscle wasting & loss of weight
x Carbohydrates : Hypoglycemia
x Minerals and vitamin deficiency
N.B: Acrodermatitis enteropathica (autosomal recessive Zinc malabsorption);
- Dermatitis o peri facial and peri anal & extrimities
- Alopecia.
- Chronic diarrheao protein losing enteropathy

Investigations
A- Stool examination to prove malabsorption
* For carbohydrate malabsorption:
- Stool pH (may be acidic)
- Reducing substances in stool.
- Breath hydrogen test.
* For fat malabsorption:
- n Stool fat globules.
- n Stool fat content (Steatocrit test).
* For protein malabsorption.
- n Fecal D1 antitrypsin.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 104 Illustrated Baby Nelson

B- For the cause:

STEP 1
ƒ Intestinal Microbiology
 Stool cultures
 Microscopy for parasites
 Viruses
 Breath hydrogen test
ƒ Screening Test for Celiac Disease
ƒ Sweat chloride test for cystic fibrosis.
ƒ Noninvasive Tests for:
 Intestinal function e.g. iron absorption test
 Pancreatic function (amylase, lipase, fecal elastase)
 Intestinal inflammation (fecal calprotectin, rectal nitric oxide)
ƒ Tests for Food Allergy: Prick/patch tests for foods
ƒ Abdominal Ultrasounds (Scan of Last Ileal Loop)
STEP 2
ƒ Evaluation of Intestinal Morphology:
 Endoscopy and jejunal/colonic histology /Electron microscopy
 Imaging (upper or lower bowel series, capsule endoscopy and the
new SmartPill measures pressure, pH, and temperature)
STEP 3: Special Investigations:
ƒ Intestinal immunohistochemistry
ƒ Anti-enterocyte antibodies
ƒ Serum catecholamines
ƒ Autoantibodies
ƒ Brush-border enzymatic activities
ƒ Motility and electrophysiologic studies
(Nelson textbook of pediatrics)
Treatment
1- Treat the cause (medical or surgical)
2- Adequate nutrition o Avoid causative food
o Medium chain triglycerides
o Supplemental minerals & vitamins.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 105 Illustrated Baby Nelson

Celiac disease
Definition
ƒ An immune-mediated (T-cell) systemic disorder elicited by gluten and related
prolamines in genetically susceptible individuals
ƒ Triggered by the ingestion of wheat gluten (contains epitopes from gliadin
which are highly resistant to intraluminal and mucosal digestion) and related
prolamines from rye and barley o incomplete degradation favor the
immunostimulatory and toxic effects o severe intestinal mucosal damage
(Gluten Sensitive Entropathy).
ƒ Frequent associations
 Type 1 diabetes, autoimmune thyroid disease, Addison disease, selective
IgA deficiency, intestinal lymphoma and rheumatoid arthritis
 Down, Turner, and Williams syndromes
Clinical spectrum
Symptomatic:
1. Frank malabsorption
 Chronic diarrhea (steatorrhea) with large pale, bulky, greasy, offensive stool
 Present around 6th – 12th month with feeding gluten diets
 Abdominal distension & pain o irritability
 Features of malabsorption syndrome (see before)
 Failure to thrive due to steatorrhea & marked anorexia
 Finger clubbing
2. Extra intestinal manifestations:
 Iron-deficiency anemia, unresponsive
to iron therapy (most common)
 Short stature
 Arthritis and arthralgia
 Aphthous stomatitis
 Peripheral neuropathies
 Cardiomyopathy
 Isolated hypertransaminasemia

Growth curve demonstrates initial normal growth from

0-9 mo, followed by onset of poor appetite with
intermittent vomiting and diarrhea after initiation of
gluten-containing diet (single arrow). After biopsy
confirmed diagnosis and treatment with gluten-free diet
(double arrow), growth improves
(Nelson 2016)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 106 Illustrated Baby Nelson

Silent
 No apparent symptoms in spite of histologic evidence of villous atrophy
 In most cases identified by serologic screening in at-risk groups
Potential
 Subjects with positive celiac disease serology but without evidence of altered
jejunal histology
Diagnosis
1. Symptomatic patients
Test for IgA anti Tissue Trans Glutaminase 2 antibodies (anti-TG2 IgA antibodies)
and in addition for total IgA in serum to exclude IgA deficiency

If anti-TG2 antibody testing is If anti-TG2 antibody testing is

positive negative

 - Refer to a pediatric gastroenterologist

Celiac disease is excluded
 - Check Anti-TG2 Antibody level

If Anti-TG2 at or >10 × upper limits If Anti-TG2 < 10 × upper limits of

of normalĺ7HVWfor HLA and EMA normal ĺSHUIRUPduodenal /jejunal
(Endomysial Antibodies) endoscopy with multiple biopsies ĺLI
biopsies shows villous atrophyĺ
Celiac disease is confirmed

If the patient is positive for EMA and If HLA and EMA negative:
positive for DQ2 or DQ8 HLA  Repeat testing and
testingĺCeliac disease is confirmed  Duodenal / jejunal biopsies

2. In asymptomatic cases: diagnosis of celiac is determined by biopsy

3. Diagnosis confirmation:
Diagnosis is confirmed by an antibody decline, and preferably, a clinical
response to a gluten-free diet.
4. If diagnostic uncertainty remains:
Gluten challenge and repetitive biopsies
Treatment
x Lifelong strict adherence to a gluten-free diet (use maise & rice)
regardless of the presence of symptoms with aid of an experienced
dietician
x Monitoring for symptoms, growth, physical examination, and adherence
x Periodic measurements of TG2 antibody levels to document reduction in
antibody titers (ESPGAN 2013,Nelson textbook of pediatrics)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 107 Illustrated Baby Nelson

Self-Assessment Case Scenarios

Case 1
A male patient aged one-year presented to the ER room with history of severe watery
diarrheal attack two days back but with minimal vomiting but since this morning vomiting
becomes more intractable with loose stool with mucous and blood. On examination, he
ZDVFU\LQJZLWKVXQNHQH\HVVHYHUHO\LUULWDEOHWHPSHUDWXUHƕ&WKUHDG\SXOVHDQG
moderate dehydration.
a. What is the diagnosis?
b. Investigations?
c. Management?

Case 2
A 9 months old baby girl, formula fed, presented to you with vomiting and diarrhea for
previous 12 hours. On examination she was found lethargic, deeply sunken eyes, skin
recoil after more than 2 seconds and capillary refill time >3 seconds (normal < 2 seconds).
Her current weight is 5.5 kg
a. What is the degree of dehydration?
b. What should be initial line of treatment?

Case 3

An 18 month old male is brought to the emergency department with a chief complaint of
diarrhea and vomiting for 2 days. His mother describes stools as liquid and foul smelling,
with no mucous, or blood. He reportedly is unable to keep anything down, vomiting after
every feeding, even water. He has about 6 episodes of diarrhea and 4 episodes of vomiting
per day. He has a decreased number of wet diapers. Exam: temp 37.0, Pulse 110, RR 25,
BP 100/75, weight 11.3 kg (40th percentile). He is alert, in mother's arms, crying at times,
and looks tired. Minimal tears, lips dry, mucous membranes tacky, His diaper is dry. No
rashes are present. His capillary refill time is less than 3 seconds and his skin turgor is
slightly diminished.

a. What is the degree of dehydration

b. How far ORS is suitable for this baby?
c. What are amount of required fluids?

(Source: Case Based Pediatrics, Hawaii University)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
‫‪Infections‬‬

‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‪.‬‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ ‫ﺭﻓﻌﻪ ﺩ‪ .‬ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‪.‬‬

‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‪14‬‬
Page | 108 Illustrated Baby Nelson

Scarlet fever
Etiology
* Group A E hemolytic Streptococci (GAS) that produce erythrogenic toxin
* Transmitted by droplet infection
* Incubation period: 3 days
Clinical picture
Throat
o Sudden onset of fever and sore throat
o Tonsils are red, enlarged with patches of exudates
which may form a membrane
o Pharynx is red and edematous

Tongue
o In the 1st two days:
White strawberry tongue (white coated
tongue with red edematous papillae)
o By the 5th day:
Red strawberry tongue (shedding of the
white coat leaving red tongue with
prominent papillae)

Skin rash
o Diffuse red maculopapular, fine punctate o Goose skin
appearance.
o Appears on the 2nd day of the disease.
o Starts in around neck then spread to the trunk.
o Rash is more intense in deep creases (e.g. elbow) o and
don’t blanch on pressure (Pastia’s Lines).
o In the face; it spares the peri oral area o Flushed face
with circum oral pallor
o Rash fades with peeling at the fingers and toes after 3- 7
days
Investigations
- Lecucocytosis with neutrophelia
- Rapid antigen test is very specific with 85-95% sensitivity
- Positive throat culture.
- Anti Streptolysin O (ASO) titer >250 Todd units ;peaking in the second week

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 109 Illustrated Baby Nelson

Complications
x Early (suppurative; septic); in the 1st week of illness
A. Local B. Distant(rare)

- Acute otitis media, mastoiditis - Meningitis

- Bronchopneumonia
- Sinusitis
- Arthritis
- Retropharyngeal abscess - Septicemia
- Cervical lymphadenitis

x Late (non suppurative; aseptic): after a latent period (2-3 weeks)

o Acute rheumatic fever
o Acute glomerulonephritis
o Post streptococcal reactive arthritis (non migratory, small and large joints)
o Erythema nodosum ; red, raised, tender nodules over the chin of the tibia
o Pediatric Autoimmune Neuropsychiatric Disorders Associated with
Streptococcus pyogenes (PANDAS) includes tics disorders, obsessive
compulsive disorders and Tourette syndrome
x Chronic carrier state
Differential diagnosis
a. Other causes of tonsillar membrane
o Infectious mononucleosis (clue: lymphocytosis and ĹWUDQVDPLQDVHV
o Oral moniliasis
o Agranulocytosis
b. Viral pharyngitis
1. Pharyngoconjunctival Fever:
- Caused by an adenovirus and often is epidemic.
- Exudative tonsillitis, conjunctivitis, lymphadenopathy, and fever
are the main findings.
- Treatment is symptomatic
2. Other causes of viral pharyngitis ; suggested by presence of
conjunctivitis, cough, hoarseness, symptoms of upper respiratory
infection, anterior stomatitis, ulcerative lesions, viral rash, and diarrhea
c. Other causes of strawberry tongue
- Kawasaki disease
- Staphylococcal toxic shock syndrome
- Streptococcal toxic shock syndrome

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 110 Illustrated Baby Nelson

Treatment
1. Symptomatic: bed rest, light diet, anti-pyretic and adequate fluid intake.
2. Antibiotics options
- Oral penicillin V for 10 days
- Once daily amoxicillin (50 mg/kg, maximum 1,000 mg) for 10 days
- Single intramuscular injection of benzathine penicillin G
- Erythromycin or azithromycin for penicillin sensitive patients
3. Eradication of carrier state:
It is not usually required unless the patient or another family member has
frequent streptococcal infections
Or
If a family member or patient has a history of rheumatic fever or
glomerulonephritis

Use: Clindamycin for 10 days or Rifampin for 5 days

N.B: In the past, daily penicillin prophylaxis was occasionally recommended;

however, because of concerns about the development of drug resistance,
tonsillectomy is now preferred for patients with recurrent streptococcal
tonsillitis

(Current Pediatrics)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Pertussis (whooping cough)

Etiology
o Organism: Borditella pertussis & Borditella parapertussis
o Route of infection: Droplet infection (mainly in child < 5years)
o Incubation period: 1-2 weeks.
Clinical picture
1. Catarrhal stage
o The most infectious stage (1-2 weeks)
o Coryza
o Conjunctivitis
o Cough
o Mild fever
2. Paroxysmal stage

o Lasts for 4- 6 weeks up to 10 weeks

o Paroxysms of cough
- Series of > 5 cough in single expiration followed by a whoop (forcible
inspiration against narrow glottis).
- During the attack; there’s facial redness, bulging
eyes, tongue protrusion and distended neck veins.
- Post tussive vomiting is very common
- After the attack; patient appears drowsy and
exhausted.
- Paroxysms may be triggered by eating, drinking ,
and exertion
- Paroxysms are more worse at night
3. Convalescence stage
o Lasts for 1-2 weeks
o Gradual decline in severity of paroxysms but cough may last for months
Complications
More frequent in infants and young children
1. Secondary infection
- Bronchopneumonia / pneumonia usually with staphylococci or streptococci
- Otitis media
- Activation of dormant tuberculosis infection
- Atelectasis

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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2. Seizures; may be due to:

- Cerebral hypoxaemia
- Intracranial hemorrhage.
- Tetany (severe vomiting o alkalosis o p ionized Calcium)
3. Straining in paroxysms can lead to
ƒ Sub-conjunctival hemorrhage
ƒ Epistaxis
ƒ Intracranial hemorrhage
ƒ Ulcers of tongue frenulum.
ƒ Pneumothorax
ƒ Hernias ; umbilical & inguinal.
ƒ Rectal prolapse.
4. Malnutrition
Due to anorexia , vomiting , and faulty food restriction
Diagnosis
In catarrhal stage
- History of contact with to a typical case
- Nasopharyngeal swab and direct fluorescent antibody staining
- Nasopharyngeal swab and PCR or Culture
In paroxysmal stage: Typical paroxysm with:
- Absent fever, wheezes or rales
- Cough t 14 days
- Apnea in infants less than 3 months
Differential diagnosis: from other causes of:
a. Spasmodic cough:
1 Pertussis
2. Adenovirus infection; associated with sore throat and conjunctivitis.
3. Foreign body inhalation
4. Pneumonia: Interstitial or Mycoplasma
5. Mediastinal mass e.g. lymph node compressing the trachea.
6. Bronchiolitis
b. Other causes of chronic cough e.g.
1. Bronchial asthma: - Recurrent wheezy chest
- Related to allergens or exercise
- Respond to bronchodilators
- Relatives with asthma
2. Pulmonary tuberculosis

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Treatment
1. Cases
a. General
- Isolation and Bed rest
- Avoid triggers of cough(e.g. hyperactivity)
- Cough sedatives
- Care of feeding: small frequent feeds or tube feeding
b. Antibiotic
* Values
- Reduction of infectivity period
- Possible clinical improvement.
* Choice
- Azithromycin 10 mg/kg/day for 5 days
- Clarithromycin 15 mg/kg/day for 7 days
- Erythromycin 50 mg/kg/day for 10 days
2. Prevention
ƒ Active immunization : DTaP vaccine
ƒ Antibiotic as for contacts regardless immunization state ± Booster
dose of DTaP
ƒ Intra muscular pertussis immunoglobulin for contacts below 2 years

Self assessment case scenarios

Case 1
An infant aged 29 days was taken by her parents to a local emergency department with
difficulty breathing. The infant had been coughing for approximately 5 days with
increasing severity, resulting in post tussive vomiting and several choking episodes. At
presentation, the infant was lethargic, and examination revealed tachycardia and mild fever
.He had thick, foamy mucus coming from his mouth, appeared cyanotic, and had an O2
saturation of 70%.Laboratory results revealed severe lymphocytosis and a chest radiograph
revealed perihilar infiltrates
The infant's mother, aged 20 years, has a prolonged paroxysmal cough with post tussive
vomiting and gasping for air that began approximately 3 weeks before the infant's delivery
a. What is the diagnosis?
b. How to confirm diagnosis?

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Enteric Fever (typhoid fever)

Etiology
o Organism: Salmonella typhi & paratyphi (A,B,C) Ÿ G-ve bacilli
o Route of infection: faceo-oral route from cases or carriers
o Incubation period: 2 weeks
Clinical picture
1. In young infants
o Acute onset of fever , vomiting , and diarrhea
o A picture mimic bacillary dysentery and dehydration
2. In older child: Like adult typhoid
Fever
o Has a stepladder rising pattern ; plateau at 39-40 Cq by the end of 1st week
o Associations
- Headache, prostration , anorexia , chills and dry cough
- Coated tongue
- Relative bradycardia
Abdominal
o Diffuse abdominal pain
o Diarrhea (Pea-soup) may occur early
but constipation predominates later
o Splenomegaly : small , soft and tender
o Rose spots :
- Salmon-colored, blanching, truncal,
maculopapules
- Appear by the 5th day and resolve
within 5 days
Outcome
* By the end of the 1st week the patient may appear acutely ill , lethargic with
convulsions (status typhosus)
* Convalescence starts after 4 weeks by decline in temperature and
improvement of the general condition .
* Relapse may occur within 4 weeks from decline of fever
Complications
x Gastro intestinal
- Intestinal hemorrhage and perforation by end of 2nd week
- Cholycystitis ( possible carrier state )
- Perisplenitis

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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- Gastroenteritiso dehydration and electrolyte disturbances

x Other rare complications
ƒ Toxic encephalopathy ƒ Pneumonia
ƒ Cerebral thrombosis ƒ Empyema

ƒ Cystitis ( possible carrier state ) ƒ Carditis

ƒ Congestive heart failure
ƒ Osteomyelitis
ƒ Septic arthritis ƒ Deep venous thrombosis
(In sickle cell disease and diabetes) ƒ Arteritis

Relapse; May occur within 4 weeks from drop of temperature

Diagnosis
x The mainstay of diagnosis of typhoid remains clinical in much of the
developing world
x Blood culture is positive in 40-60% of cases early in the disease
x After the 1st week
a. Widal test (Positive titer >1/160)
- Detect antibodies against O & H antigens
- Never used alone to prove the diagnosis in endemic areas
b. Positive stool culture and urine culture
x Other investigations:
a. CBC:
 Anemia & leucopenia (toxic depression of bone marrow).
 Thrombocytopenia is a marker of severity
b. Nested polymerase chain reaction analysis using H1-d primers has
been used to amplify specific genes of S. Typhi in the blood of patients
c. Culture of bone marrow cells (not affected by prior use of
antibiotics but invasive)
Treatment
1. Cases
a. General
ƒ Bed rest & light diet
ƒ Symptomatic treatment
ƒ Treat complications:
- Intravenous line and intravenous fluids for shock
- Blood transfusion for hemorrhage
- Surgical consult for intestinal hemorrhage and/ or perforation

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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b. Antibiotics choice
x For fully sensitive and uncomplicated enteric fever
- Chloamphenicol or ampicillin for 14-21 days(high relapse rate) or
- Alternative: Flouroquinolone
x For multidrug resistant (to ampicillin, septazole, and chloramphenicol)
- Flouroquinolone or
- Cefixime or Ceftriaxone
x For quinolone resistant enteric fever
- Azithromycin for 7 days or
- Ceftriaxone for 10-14 days
2. Prevention
- Food & water hygiene
- Vaccine o Ty21a or Vi capsular conjugate vaccine (TAB vaccine is
obsolete)
Self assessment case scenarios
Case 2
A 12-year-old child developed fever about 1week after visiting relatives in the village. The
fever has persisted for about 10 days. Diarrhea was present for a few days, and then
cleared. The child is now constipated. The child appears moderately acutely ill. The liver
and spleen are enlarged. There are palpable, small (2–4 mm) erythematous spots on the
trunk only.
What is the most likely cause of this child’s infection?

Case 3
A seven-year-old girl presented to our hospital with fever, abdominal pain, nausea,
vomiting and diarrhoea for one week duration, followed by fresh bleeding per rectum after
10 days from her illness . She had history of neither chronic medical disease nor surgical
operation. Physical examination on admission revealed pallor, BP = 80/50 mmHg, pulse
UDWH EPUDSLGUHVSLUDWLRQWHPSHUDWXUH Û&+HUDEGRPLQDOH[DPLQDWLRQ
revealed mild splenomegaly with diffuse abdominal tenderness. Blood profile showed a
hemoglobulin of 7.1 g/dl, and white blood cell of 4500
An urgent colonoscopy revealed multiple variable size punched-out ileal ulcers
a. What is the diagnosis?
b. What are the important four lines of management?
(Journal of Medical Case Reports 2010, 4:171)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Tetanus (Lock Jaw)

Etiology
Clostridia tetani (gram positive spore forming, anaerobic bacilli)
p
Spores excreted in animal excreta o contaminate soil and water
p
Contaminate wounds, umbilical stump, surgical & vaccine sites
p
Spores germinate o proliferate locally o produce 2 toxins (tetanospasmin &
tetanolysin) which travel along nerve trunk & blood stream
p
Reach the CNS then redistribute to spinal cord, brain & motor end plate.
Clinical picture
Incubation period: 1-14 days but may be longer
1. Mild tetanus
* Pain & stiffness at site of injury for few weeks
* Occur in patients who received the antitoxin before
* Mortality < 1%
2. Generalized tetanus (typical form)
* Spasms occur in descending form with intact consciousness:
* Spasms precipitated by visual or auditory stimuli
o Risus sardonicus : grimacing face due to facial
muscles spasm
o Trismus: difficult moth opening due to
massetter spasm.
o Laryngeal spasm o stridor and may be
suffocation
o Opisthotonus o arched back
o Tonic seizures o flexed adducted arms and
extended lower limbs with colonic
b i
3. Cephalic tetanus
- Follow head injury or otitis media.
- Short incubation period with high mortality
- Involve cranial nerves palsy.
- May be followed by generalized form
4. Tetanus neonatorum (due to contaminated newborn’s umbilical stump)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Complications
a. Respiratory
- Laryngeal spasm o suffocation
- Aspiration pneumonia
- Pneumothorax
- Lung collapse.
b. Mechanical: (with severe seizures)
- Tongue laceration
- Vertebral fractures
- Muscle heamatoma.
Diagnosis
1- History of wound and typical spasms
2- Normal CSF.
3- Wound culture may be helpful.
Treatment
I. Prevention
1. Active immunization
- DTaP or DT At 2, 4, 6, 18 months
- Booster dose at 4 years
2. Prevention of tetanus after injury:
a. Surgical management of the wound (better left opened.)
b. Prophylaxis as follows (according to immunization history):-
1. Unknown or received less than 3 doses of toxoid
* Booster dose of diphtheria toxoid vaccine
* Tetanus immunoglobulin(500units) or tetanus antitoxin(5000
units) for contaminated wounds
2. If received 3 doses or more of toxoid
Ask for the time of last toxoid dose:
* In clean wounds
- Last toxoid dose t 10 years o booster dose
- Last toxoid dose < 10 years o nothing
* In contaminated wounds
- Last toxoid dose t 5 years o booster dose
- Last toxoid dose < 5 years o nothing
3- Prevention of tetanus neonatorum:
- Maternal immunization with tetanus toxoid
- Aseptic care of the umbilical stump

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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II. Curative
1- The patient is kept in quiet, dark room.
2- Supportive o I.V fluids
o Respiratory Care:
- Suctioning.
- Keep patent airway
- Oxygen inhalation
- May need assisted ventilation.
3- Diazepam I.V for spasms (0.1 – 0.3 mg/kg)
4- Toxin neutralization
- Tetanus immunoglobulin 3000-6000 IU
- Anti tetanic serum (tetanus antitoxin) 50.000-100.000 IU
5- Penicillin G 200.000 IU/kg/d I.V for 10 days.
6- Immunization after recovery

Self assessment case scenarios

Case 4
A seven-day-old male baby was admitted to the Intensive Care Unit with progressive
difficulty in feeding, hypertonicity, and severe tonic contractions of the muscles triggered
by minimal stimuli such as light, noise or touch.
The patient was afebrile and eupneic, weighing 2800 g, and had a history of nonsterile
home delivery.The laboratory evaluation was within normal except for Culture from the
umbilical cord grew several aerobic bacterial species

(a) (b)
1. What is the diagnosis?
2. What are the clinical signs seen?

Case 5
A 5-year-old unimmunized child fell while playing in an old barn and sustained a
laceration to his leg. After local wound care, what would be the most appropriate
management regarding tetanus prophylaxis?

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Viral Infections
Measles (Rubeola)
Etiology
o RNA virus One antigenic type, so, one attack gives lifelong immunity
o Transmitted by droplet infection.
o Incubation period 1-2 weeks
o Infectivity period 5 days before & 5 days after rash
Clinical picture
a. Catarrhal stage
o High fever
o Non purulent conjunctivitis with photophobia.
o Coryza (mucopurulent rhinits)
o Cough (dry, irritating, barking)
o Sore throat
Koplick’s spots (pathognomonic)
- Appear on the 3rd day of fever
- Opposite the lower molar teeth
- Grayish white dots with red areolae.
- Disappear 2 days after rash
b. Eruptive stage
1. Fever /rash relationship
o Rash usually appear on the 4th day of fever
o Fever rises up to 40 qC for 2 days then rapidly fall
2. Rash pattern
o Maculopapular rash
o Starts behind the ears near the
hair line
o By the 1st day it covers the upper
half of the body
o By the 2nd day it covers the lower
body till the thigh
o By the 3rd day it reaches the feet When it reaches
lower limbs, it fade from the face over the next 3 days
c. Convalescence stage
Rash fade in order of appearance with fine branny desquamation (except in
palms & soles)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Measles variants
Modified (attenuated) measles Atypical measles

Seen in patients with preexisting Seen in patients who received killed

but incompletely protective anti- measles vaccine (obsolete) and in immune
measles antibody e.g. compromised
- Receipt of intravenous - Confluent bullous or hemorrhagic rash
immunoglobulin - Bleeding rash and orifices
- Measles vaccination - Multi organ involvement
Complications
1. Pulmonary infections
o Commonly 2ry bacterial infection mainly with strept pneumoniae
o with streptococci
ƒ Otitis media
o Suggested by:
ƒ Sinusitis
- Marked increase of fever instead of
ƒ Tonsillopharyngitis
decline
- Malaise and prostration ƒ Laryngitis
- Leucocytosis ƒ Tracheobronchitis
ƒ Pneumonia

ƒ Hect’s pneumonia : viral pneumonia with multinucleated giant

cells in the lungs.
ƒ Activation of T.B focus : due to temporary loss of hhypersensitivity
to tuberculoprotein for 4-6 weeks
2. Gastrointestinal complications
1. Ulcerative stomatitis up to cancrum oris
2. Enterocolitis
3. Gastro enteritis
Measles may be complicated by malnutrition

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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3. Neurologic complications (Rare)

o Viral encephalitis with a CSF pleocytosis
o Acute disseminated encephalomyelitis during the
recovery phase of measles
o Subacute Sclerosing Panencephalitis(SSPE); slow
virus infection which manifest years after measles
attack
o Guillian Barre syndrome
o Aseptic meningitis.
o Transverse myelitis
Others (Rare)
o Myocarditis, DIC, thrombocytopenia
Prevention
ƒ Measles vaccine at 9 months
ƒ MMR vaccine 1st dose at 12-18 months
ƒ MMR vaccine 2nd dose at 36 months (in USA at school age; 4- 6 years)
Treatment
a. For cases
Treatment is largely supportive; no specific therapy is of proven benefit
1. Supportive
- Bed rest and isolation till rash disappear
- Symptomatic e.g. eye care, paracetamol
- Care of feeding : soft diet , fluids.
2. Treat complications e.g. Antibiotics for 2ry infection
3. WHO and UNICEF recommend single oral dose of vitamin A 100.000 -
200.000 IU to reduce measles morbidity for children with measles
complications or at risk for complications
b. For contacts
x Exposed contacts with high risk of complications
o This groups include infants < 1 year of age, and immunocompromised
hosts
o Intramuscular immune serum globulin can prevent measles if given
within 6 days of exposure
o Live vaccination is given 3 months later
x Exposed contacts without high risk of complications: can be given live
measles vaccine within 72 hours of the exposure better than the
immunoglobulin
(The American Academy of Pediatrics, the American Academy of Family Physicians, UpToDate website)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Rubella (German measles)

Etiology
o RNA virus One antigenic type, so, one attack gives lifelong immunity
o Transmitted by droplet infection/ Transplacental
o Incubation period 2-3 weeks
o Infectivity period 7 days before & 7 days after rash
Clinical picture
a. Catarrhal stage
- Mild fever and mild nasopharyngitis
- Characteristic tender enlargement of posterior
cervical & post auricular lymph nodes is ;appear
1day before the rash and last for up to 1 week
b. Eruptive stage
1. Fever /rash relationship
o Rash appears on the 2nd day of fever.
o Fever drops when the rash appear
2. Rash pattern
o Maculopapular similar to measles’s but less
intensely red (Rubella is a Latin word for "little red")
o Starts in face then involve trunk & limbs
o When reaches the trunk, it fades from the face
o Fades on the 3rd day (3 days measles) without
desquamation
Complications
o Congenital rubella syndrome if the mother catches infection during pregnancy
especially in 1st trimester
o Other rare complications: Thrombocytopenia, encephalitis, and arthritis.
Prevention: MMR vaccine (see before)
Treatment
1. For cases : Symptomatic care
2. For exposed pregnant :Test immediately for maternal rubella Antibody IgG
ƒ If positivHĺshe is immune ĺFRQWLQXHSUHJQDQF\ZLWKFORVHIROORZXS
ƒ If negative and remained negative in subsequent WHVWVĺLQIHFWLRQV hasn’t
occurred
ƒ If negative initially and turned up positive in subsequent tests either
- Termination of pregnancy (Better and recommended)
- If mother declined termination; rubella immune globulin may be
given (may reduce severity of fetal infection) (CDC and UpToDate 2012)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 124 Illustrated Baby Nelson

Roseola Infantum

Etiology
o Human herpes type 6 virus(DNA virus)
o Transmitted by droplet infection
o Incubation period: 5-15 days
o Peak age: 5-15 months(Infantum)
Clinical picture
1. Fever /rash relationship
o Abrupt high fever up to 39-40 qC
o Febrile convulsion is common
o Fever fall by crisis at the 3rd – 4th day of illness
o Rash appears 12-24 hours after fever’s drop
2. Rash pattern
o Maculopapular; rose-like rash (Roseola)
o Starts on the trunk o then rise to involve neck,
face & lower limb.
o Rapidly fades in 2 days without desquamation
Treatment
ƒ Symptomatic
ƒ Ganciclovir for complicated cases (very rare)

Erythema Infectiosum

Etiology
o Human Parvo B19 virus (DNA virus)
o Transmitted by droplets infection and transplacental
o Incubation period 5-15 days
Clinical picture
o Mild catarrhal stage followed by
o Sudden livid erythema of cheeks (slapped cheeks)
o Maculopapular rash follows starting on the trunk
o The rash fades with central clearing (lacy appearance)
Complications
o Transient arthritis/arthralgia
o Erythroblastopenic crisis in patients with chronic hemolytic anemia
Treatment
o Symptomatic
o IVIG for immunodificients and chronic hemolytic anemia patients

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 125 Illustrated Baby Nelson

Infectious mononucleosis
(Glandular fever)

Etiology
o Epstein Barr virus (DNA, oncogenic virus)
o Transmitted by droplet infection and rarely blood borne
o Incubation period : 1 – 2 months
o The virus infect the epithelium then establish in B-lymphocytes
Clinical picture
o Fever , severe fatigue and sore throat
o Tonsillopharyngitis with thick white tonsilar membrane
o Lymphadenopathy(90%) commonly affect cervical group
but may be generalized
o Maculopapular skin rash in 15% but in up to 80%
of patients if ampicillin or amoxicillin are given
o Mild splenomegaly (50% of cases)
o May be hepatitis and hepatomegaly (10%)
Complications
ƒ Upper airway obstruction by enlarged tonsils
ƒ Rupture spleen; even with minor trauma
ƒ Hematologic disorders: Aplastic anemia, auto immune hemolytic anemia
and thrombocytopenia
ƒ Pneumonia
ƒ Myocarditis
ƒ Oncogenicity e.g. nasopharyngeal carcinoma & Burkitt’s lymphoma
Investigations
- Absolute lymphocytosis (lymphocyte count >4500/mm3) & atypical
lymphocytes >10%
- Positive heterophile antibody test ; antibodies that agglutinate sheep RBCs
(Paul Bunnell test) or horse RBCs (Monospot test)
- EBV IgM antibody or EBV capsid antigen only for heterophile test negative
Treatment
o Symptomatic treatment: antipyretics (avoid aspirin) and bed rest
o Avoid contact sports in the first 2-3 weeks (to avoid rupture spleen)
o Steroids for: - Tonsillar enlargement with upper airways obstruction
- Auto immune hemolytic anemia and thrombocytopenia
- Seizures and meningitis
o Treatment of complications

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Page | 126 Illustrated Baby Nelson

Differential Diagnosis of Maculopapular Rash

1. Viral Exanthema e.g.
o Measles
o Rubella
o Roseola infantum
o Erythema infectiosum
o Infectious mononucleosis.
2. Bacterial Exanthema e.g.
o Scarlet fever
o Typhoid fever
o Meningococcaemia (Toxemia, blood culture, CSF examination)
3. Ricketssial infections
4. Collagen vascular disorders
o Kawasaki disease
o Systemic lupus erythematosus
o Systemic onset rheumatoid arthritis
5. Allergic
o Serum sickness and drug eruption : History of drug intake ,itching
6. Insect bites (e.g. fleas) o Itching ; insect may be seen
o Lesions fade on pressure.
Kawasaki Disease (KD) : Vasculitis of medium and small-sized blood vessels
Diagnostic criteria
x Prolonged unexplained fever of >38. 5ºC • five days plus at least 4 out of:
- Bilateral non exudative conjunctivitis
- Mucositis: cracked, red lips , a strawberry tongue and injected pharynx
- Polymorphous rash: perineal erythema, followed by macular, morbilliform, or
targetoid skin rash of the trunk and extremities
- Extremity changes: edema of the dorsum of hands and feet, and a diffuse erythema
of palms and soles
- Cervical lymphadenopathy; at least one lymph node >1.5 cm in diameter.
x KD carries risk of coronary aneurysms and infarction
Investigations
- Elevated acute phase reactants and thrombocytosis
- Echocardiography follow-up for coronary aneurysms
Treatment
ƒ IVIG 2gm/kg IV infusion over 8-12 hours
ƒ Aspirin oral 80-100 mg/kg till fever decline for 48 hours then antiplatelet dose 3-
5mg/kg till acute phase reactants normalizes

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Page | 127 Illustrated Baby Nelson

Self assessment case scenarios

Case 6
A 17-month-old nonimmunized girl has had fever for 4 days and coryzal manifestations
followed by a maculopapular rash. Once she developed the rash, the temperature shoots to
40 C for 2 days. Throat examination showed grayish white spots over the inner aspect of
the cheek. There is a 4-month-old sibling at home.
What is the appropriate management for this sibling?

Case 7
A pregnant mother in the 1st trimester brought her 8 years old girl who had fever and mild
coryzal manifestations for 2 days. Fever immediately settled the time a skin rash appeared.
On examination the girl was entirely normal apart from faint rosy maculopapular rash over
the face and upper chest along with tender bilateral post auricular lymph nodes
a. What exanthema disease does this girl have?
b. What is the appropriate advice for her mother?
Case 8
14-year-old girl presented with a one-week history of fever38 C, sore throat, progressive
fatigue, malaise with mild bilateral posterior cervical adenopathy. Sclera jaundice was
prominent. The abdomen was remarkable for moderate hepatomegaly and splenomegaly.
Laboratory findings revealed hemoglobin 12 g/dL; platelet count 69.000/mm3; white blood
cell count 8.400/mm3 with 10% atypical lymphocytes. Liver function tests reported AST
368 IU/L; ALT 319 IU/L, albumin 3.3 g/dL. Total bilirubin was 4.0 mg/dL and direct
bilirubin was 2.4 mg/dL
a. What are the most important 4 investigations?
b. What is the diagnosis?
Case 9
This is a 5 year old male who is referred to your clinic by the school nurse for suspicion of
child abuse because the child's face appears to have been "slapped" repeatedly. The child
has been checked up regularly and is up to date on immunizations. On examination;
Temperature is 38.2 C , slight erythema of his oropharynx and pinkish red color of his
cheeks. Further questioning reveals an ill cousin with a "rash." Over the next several days,
the malar erythema begins to fade and a faint pink rash appears on his trunk and extensor
surfaces of his upper extremities. The truncal rash becomes confluent, creating a lacy
appearance. Both the fever and rash disappear without any further problems
a. What is your diagnosis?
b. What is the etiology?

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Page | 128 Illustrated Baby Nelson

Chicken pox
(Varicella)

Etiology
o Varicella Zoster Virus(VZV): DNA human herpes virus which can cause
varicella in children and Herpes Zoster (shingles) if reactivated
o Transmission : - Droplet infection from cases
- Contact with skin lesions from cases
o Incubation period: 2-3 weeks
o Patients are infective 2 days before the rash and till the rash crusted
Clinical picture
o Prodroma
- Fever, malaise, anorexia may occur 24-48 hours before the rash
- These symptoms resolve within 2-4 days after the onset of the rash
o Rash
Appear first - On the scalp, face, or trunk
Distribution - Centripetal with little
involvement of the limbs
Pattern - Erythematous macules ĺHYROYH
into papules ĺYHVLFOHV (tear
drop on a base of erythemaĺ
crusts (and pustules may form)
Characteristics - Simultaneous presence of
lesions in various stages
- Very itchy rash
- In mucus membranes o vesicles
may ulcerate
Complications
1. Secondary bacterial infection of the vesicles (in 5% of cases)
2. Progressive varicella may occur in
ƒ Adolescents and adults even healthy !
ƒ Immunocompromised children
ƒ Newborns
Manifestations
- Visceral organs involvement
- Coagulopathy , and severe hemorrhage
- Hemorrhagic vesicles(Hemorrhagic varicella)
- Severe abdominal pain( involved mesenteric
lymph nodes or the liver)
- Fatal course if adrenal hemorrhage occur (American academy of pediatrics)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 129 Illustrated Baby Nelson

3. Other rare complications

- Mild thrombocytopenia and transient petechiae may occur in 1-2 %
- Rye’s syndrome ; especially with concomitant Aspirin
- Meningoencephalitis and cerebellitiso transient cerebellar ataxia
- Viral pneumonia
- Viral myocarditis
4. Congenital varicella
- If pregnant mother catches infection in the first trimester
- Clinically: Low birth weight , mental retardation &congenital anomalies
Treatment
1. Prevention: Chicken pox Vaccine
- Live attenuated vaccine.
- Given at 12-18 months age
- Dose: - Single dose between 12 months to 12 years.
- Above 12 years o 2 doses 4 weeks apart
- Protective value up to 95%.
2. For cases
a. General
o Antipruritic : calamine lotion , anti histaminics
o Antipyretic (paracetamole); never use aspirin.
o Antibiotics for 2ry bacterial infection
b. Antiviral
Acyclovir 20 mg/kg/dose, given 4 doses per day, for 5 days
Value Modify clinical picture and prevent complications
Indications Children >12 mo of age:
- With chronic cutaneous or pulmonary disorders
- Receiving short-term, intermittent, or aerosolized
corticosteroid therapy,
- Receiving salicylate therapy
Non indication Not recommended routinely in the healthy child
Initiation As early as possible, preferably within 24 hr of the
onset of the rash
(American Academy of Pediatrics)
3. Post exposure prophylaxis
a. Chicken pox vaccine
ƒ Given to healthy children within 3-5 days after exposure
ƒ Effective in preventing or modifying varicella especially for
household contacts and for outbreak control.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 130 Illustrated Baby Nelson

b. Anti-VZV immune globulin

ƒ Recommended for post exposure prophylaxis for:
- Immunocompromised children
- Pregnant women
- Newborns
ƒ Dose is 1 vial (125 units) for each 10-kg of body weight ,IM
ƒ As soon as possible but within 96 hr after exposure.
c. Oral acyclovir: late in the incubation period may be protective (??)

Differential diagnosis of papulo vesicular rash

1. Viral infections
o Chicken pox
o Herpes zoster (reactivation of dormant varicella )
o Herpes simplex
o Hand, Foot, and Mouth Disease
2. Impetigo contagiosa
3. Scabies
4. Others: Fungal infections, Insect bites, Drug eruption

Hand, Foot, and Mouth Disease

ƒ Caused by Coxachie A virus (an Entero virus)
ƒ Transmitted by oral-oral or fecal-oral routes
ƒ Clinically
- Oral mucosal lesions : macules or small vesicles that evolve to painful
ulcers
- Palms or soles lesions: Red macules or papules appear in a linear
arrangement. They quickly evolve to form vesicles with a clear, watery
appearance
ƒ Management
- Symptomatic e.g. topical local anesthetics to reduce oral discomfort
- A diet of vanilla ice cream is the easiest to tolerate

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 131 Illustrated Baby Nelson

Self assessment case scenarios

Case 10
7 years old child was brought to the hospital because of vomiting, lethargy, slurred speech,
and difficulty in walking. The patient had been in excellent health until 2 days before
admission. His brother had had varicella 2 weeks previously. The physical examination at
admission revealed an irritable but cooperative child. A neurological examination revealed
no abnormality except for nystagmus upon lateral gaze to either side. His skin shows corps
of vesicles and papules mainly on the trunk
a. What is the initial disease?
b. What is the complication?
c. What is the prognosis?

Case11
An 18-month-old child presents to your office with a 2-day history of fever. He is not
eating well and the mother tells you that she thinks his mouth hurts. On examination you
see 3 mm vesicles on erythematous bases on the soft palate and tonsils. The child also has
small vesicular lesions on his palms and soles
a. What is the diagnosis?
b. What is the etiology?

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 132 Illustrated Baby Nelson

Mumps
(Epidemic Parotitis)

Etiology
x RNA paramyxo virus affecting the salivary glands.
x Transmission: Droplet infection from human cases; no carriers.
x Incubation period: 2-3 weeks.
Clinical picture
ƒ About 25-30% are subclinical
ƒ Prodroma ; mild fever, malaise & myalgia
ƒ Acute non suppurative inflammation of salivary glands
a. Parotid gland
- Usually one side precede the other
- Tender parotid swelling o push the ear
forward and outward
- Swelling Ĺ by teeth clinching and Ļ by
mouth opening.
- Hyperemic stenson duct orifice
- Swelling Ĺ to maximum over 3 days and Ļ over 5 days
b. Submandibular gland
- Submandibular swelling
- May be with parotitis (Alone in 10 %)
- Less painful
c. Sublingual gland
- Least common
- Submental swelling
- May be with chest wall edema
Differential diagnosis
1. Parotid stone (acute obstructive parotitis)
- Pain increase by mastication.
- Stone may be felt under the skin
- Stone can be detected by X-ray or CT
- Swelling may be intermittent.
2. Parotid abscess
- Mainly due to staph aureus.
- High fever.
- Throbbing pain.
- Pus may ooze from Stenson duct orifice.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 133 Illustrated Baby Nelson

3. Endemic parotitis
- Bilateral painless swelling of parotids
- Due to malnutrition, ankylostoma, chronic anemia
4. Upper deep cervical lymphadenitis
Complications
1. Meningitis and Meningoencephalitis
o The most frequent complication (10 - 30 % cases; boys > girls)
o Most commonly manifests 5 days after the parotitis
o Clinically
- Fever, vomiting, headache ,and convulsions
- Meningeal irritation signs in older children
- CSF (clear,ĹWHQVLRQĹSURWHLQĹO\PSKRF\WHVQRUPDOVXJDU
- In typical cases, symptoms resolve in 7-10 days
- Aqueduct stenosis and hydrocephalus are rare possible sequels
2. Epidydimo- Orchitis
o Commonest complication in adolescents boys and adults
o Usually follow parotitis
o Clinically
- Fever, chills ,lower abdominal pain
- Severe testicular pain, accompanied by swelling and
erythema of the scrotum
- Usually unilateral (Bilateral in ” 30%)
- Atrophy of the testes and impaired fertility may occur but sterility is
very rare even with bilateral involvement
3. Oophoritis
o Uncommon in post pubertal girls
o Clinically
- Pelvic pain and tenderness
- May be confused with appendicitis when
located on the right side
4. Acute hemorrhagic pancreatitis
o May occur even without parotid swelling
o Features
- Acute epigastric pain and tenderness
- Vomiting, fever &prostration
- Ĺ serum lipase is characteristic
- Abdominal ultrasound and
CT scans are diagnostic

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 134 Illustrated Baby Nelson

5. Other rare complications

ƒ Sensorineural hearing loss
ƒ Thyroiditis
ƒ Myocarditis
ƒ Migratory polyarthralgia
ƒ Mumps emberyopathy( abortion or enocardial fibroelastosis of fetal heart)
Treatment
a. Prevention
o MMR vaccine (see before)
b. Cases
o Isolation: Patients with mumps should stay home from school or
work for five days after onset of clinical symptoms, as recommended
by the American Academy of Pediatrics (AAP)
o Symptomatic treatment:
- Topical application of warm or cold packs to the parotid gland
may be soothing
- Analgesics e.g. acetaminophen
- Soft diet (avoid sour fluids)
o Treatment of complication e.g.
-Orchitis ( support testis ,analgesics)
-Acute pancreatitis responds to supportive care (IV fluids,electrolytes)
o The local public health officials should also be notified .
Case 12
A 17-year-old male patient was admitted to the emergency unit with nausea and vomiting.
On physical examination, the patient was unconscious, had neck stiffness, his temperature
was 38°C, his blood pressure was normal; he had bilateral swellings in the parotid regions
and findings of unilateral red swollen scrotum
a. What is the diagnosis?
b. What is the required investigations?
c. What is expected from his lab investigation?
Case 13
A 17-year-old male patient was admitted to the emergency unit with nausea and severe
vomiting associated with a band-like back pain, shortness of breath, and palpitation. On
physical examination, pulse 195 bpm,he had bilateral swellings in the parotid rregions
Blood glucose 192 mg/dl , amylase 512 u/l (n 25-125), CPK 1121 u/l (n 38-174), and CK-
MB 75 u/l (n 2-6)
a. What is the diagnosis?
b. What are the most important investigations?
(Indian Journal of Radiology and Imaging, 2006 ,Volume : 16, Issue : 3, Page : 305-308)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 135 Illustrated Baby Nelson

Poliomyelitis

Causes
x RNA enterovirus with 3 serotypes (I, II, III)
x Transmission: Faeco oral infection or droplet infection
x Outcome of infection
ƒ Not all infected cases develop the disease
ƒ Incidence is 1 diseased for 10.000 infected depending on
- Neurovirulence of the virus
- Host factors e.g. Extremes of age ,I.M injection
Pathology of the disease
x Damage to the motor nuclei in spinal cord (anterior horn cells) and brain
stem o atrophy of muscles supplied by these motor cells.
x Encephalitis may develop in some cases.
Clinical Forms
Listed in order of severity
1. Subclinical infections
2. Abortive poliomyelitis (minor illness)
- The commonest form (80-90%) with mild constitutional manifestations.
- Presentation : Mild fever, rhinitis , sore throat Or Abdominal pain and
,diarrhea
3. Non paralytic poliomyelitis
As abortive plus picture of aseptic meningitis
- Muscle tenderness
- Meningeal irritation: Pain & stiffness in neck, back & extremities
- Tripod sign : ask the baby to sit ; there will be 3 points of support ;
buttocks, hands behind & feet in front
- Head drop sign Ÿ If the baby lifted Ÿ head drops backwards due to
weak neck muscles
- Urine retention due to bladder paralysis
4. Paralytic poliomyelitis:
Characters of paralysis
o Lower motor neurone Ÿ hypotonia, hyporeflexia with muscle wasting
o Asymmetric Ÿ one limb is affected more than the other.
o Patchy distribution Ÿ affect some groups (esp. the large) sparing
others in the same limb.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 136 Illustrated Baby Nelson

Types of paralysis
o Spinal
- 2ry inability to walk (lower limb muscles)
- Respiratory failure (respiratory muscles)
- Scoliosis (trunk muscles)
o Paralysis of medullary nuclei
- &UDQLDOQHUYHVĺ3DODWR-pharyngeo-laryngeal paralysis
- Respiratory FHQWHUĺLUUHJXODUEUHDWKLQJ
- 9DVRPRWRUFHQWHUĺODELOHEORRGSUHVVXUH and dysrrhythmias
Diagnosis
Viral isolation Stool Throat
Differential diagnosis
A. Causes of acute flaccid paralysis:
Paralytic disease Features of paralysis
Guillian Barre syndrome Symmetric , ascending , motor &sensory
Tick paralysis Symmetric , ascending , / find the tick
Post diphteritic Symmetric , descending, motor & sensory
Botulism Symmetric , descending / history
Transverse myelitis Symmetric , non progressive , with sensory level
B. Causes of pseudo paralysis
- Bones: scurvy, osteomyelitis and fractures
- Joints: arthritis, dislocation and synovitis
Management
Prevention: Polio vaccines
Supportive
- Analgesics (avoid injections).
- Bed rest with good diet.
- Care of bladder (parasympathomimitics r catheter)
- Care of comatosed
- Decrease deformity by proper positioning of limbs.
- Enema and laxatives for constipation
- Physiotherapy after 2-3 weeks & orthopedic consultation
Treat complications
x For Bulbar paralysis:
- Support respiration
- Monitor blood pressure
- Care of nutrition

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Parasitic Diseases
Nematodes
x Ascaris Infection occur by.
x Enteroblius vermicularis Ingestion of eggs.
x Ankylostoma (hook worm) Infection occur by.
x Strongyloids Skin penetration by larvae.
Clinical features
- Asymptomatic
- Abdominal pain
- GIT bleeding (anemia). Malnutrition and impaired growth may occur
o In Ankylostoma & Strongyloids o skin penetration may lead to o
pruritic maculopapular rash at the site of penetration (Ground itch)
o Ascaris &ankylostoma may lead to pulmonary symptoms due to larval
migration
o Ascaris may lead to intestinal obstruction.
o Enterobius (oxyuris) may lead to:
o Enuresis & irritability
o Nocturnal anal pruritus
Diagnosis
ƒ Detect the worm or the characteristic eggs in stool.
ƒ Test for complications: occult blood in stool, iron deficiency anemia.
Treatment
x General: hand washing, fingernails kept cut &clean, avoid bare footing.
x Albendazole (400 mg PO once) or Mebendazole or Flubendazole 100 mg
twice daily for 3 days
x For oxyuris
- Single oral dose of Mebendazole (100 mg) or Albendazole (400 mg)
- Repeat in 2 weeks with treatment of all family contacts
x Nitazoxanide (100-200 mg bid PO for 3 days )give same cure rate as
Albendazole
x Ivermectin (Stromectol, Mectizan) is FDA approved for treatment of
intestinal Strongyloids

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 138 Illustrated Baby Nelson

Schistosomiasis
Life cycle
Exposure to water channels o cercariae penetrate skin which mature into adult
worms in 1-3 months which travel to:
- Urinary bladdero Schistosoma heamatopium
- Intestine oSchistosoma mansoni
Adult worms lay eggs when eggs reach fresh water they inhabit the snails to
mature into hundreds of cercariae
Schistosoma heamatopium Schistosoma Mansoni
Incidence - Prevail in all Egypt Prevail in lower Egypt
Clinical Pruritic papular dermatitis may occur at site of cercarial entry
picture - Cystitis - Bleeding per rectum
- Terminal heamaturia - Abdominal pain , diarrhea , tenesmus
- Late Ÿ cancer bladder - Late : liver fibrosis & portal hypertension
Investigation - Urine analysis for ova - Stool analysis for ova
- Rectal snip& look for ova - Bladder biopsy& search for ova
- Serology is not accurate - Serology is not accurate
Treatment Praziquantel 40 mg/kg/d in 2 divided oral dose (drug of choice)

Cestodes
T. saginata T. solium H. Nana
Definitive host Human Human Human
Intermediate Cattles (beef) Pigs (pork) Fleas
host
Infection Ingestion of cysticercus Ingestion of Ingestion of eggs
bovis in under cooked cysticercus cellulosa
beef in under cooked pork
Clinical picture - Abdominal pain - Abdominal pain - Abdominal pain
- Distension - Distension - Distension
- Weight loss - Weight loss - Weight loss
- Irritability & fits due
to neurotoxins
Treatment Praziquantel 25 mg /kg single oral dose
or
Niclosamide :
50 mg/kg PO once for children, 2 g PO once for adults
However, this medication is no longer available in the USA

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Page | 139 Illustrated Baby Nelson

Ecchinococcus granulosus

Definitive host Dogs

Intermediate host Humans and Cattle
Clinical picture Eggs change into cysts into the liver(2/3) , lungs, braino
compression manifestation
Rarely cyst rupture o severe anaphylaxis
Treatment - High dose Albendazole for 6 months
- Surgical removal or ultra sonic aspiration for severe
pressure manifestations

Diseases Caused By Protozoa

Amoebiasis Giardiasis
Etiology Entamoeba histolytica Giardia lamblia
* Inhabit the large intestine. * Inhabit the upper small intestine
* Exist in two forms: * Present in two forms :
- Cystic form (non invasive) - Cyst form (non invasive)
- Vegetative form (invasive). - Vegetative form (invasive).
Transmission Feco-oral route Feco-oral route
Clinically - Asymptomatic. - Asymptomatic.
- Ameobic dysentery - Diarrhea
- Extra intestinal (Lung & liver - Abdominal distention
abscess) - Abdominal pain (chronic, recurrent).
- May be malabsorption syndrome
Treatment Asymptomatic intestinal carriers Preferred
Paromomycin or Diloxanide ƒ Tinidazole 50 mg/k/d single
furoate oral in 3 dose for 7 days dose
Invasive forms ƒ Nitazoxanide
o Initial 4-11 yr: 200 mg bid for 3 days
Metronidazol 50 mg/k/day (oral >12 yr: 500 mg bid for 3 days
3 doses) for 7-10 days ƒ Metronidazole 15 mg/k/d for 7
or days
Tinidazol 50 mg/k/day (oral Alternative
single dose) for 3 days ƒ Albendazole 400 mg once a
day for 5 days
o Followed by
7 days course of oral
Paromomycin 25 mg/kg/day

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Page | 140 Illustrated Baby Nelson

Fever
Definition
- A UHFWDOWHPSHUDWXUH•oC
- A value >40 oC is called hyperpyrexia.
- Any abnormal rise in body temperature should be considered a symptom
of an underlying condition
Etiology
x Infectious:
- Self-limited viral infections (common cold, gastroenteritis) and
uncomplicated bacterial infections (otitis media, pharyngitis,
sinusitis) are the most common causes of acute fever
- Others: urinary tract infections, pneumonia, meningitis,…
x Inflammatory e.g. Rheumatic diseases
x Neoplastic e.g. Leukemia and Neuroblastoma
x Miscellaneous e.g. Familial Mediterranean Fever
Evaluation of acute fever
ƒ Thorough history: onset, other symptoms, exposures (daycare, school,
family, pets, playmates), travel, medications, other underlying disorders,
immunizations
ƒ Physical examination: complete, with focus on localizing symptoms
ƒ Laboratory studies on a case-by-case basis
o Rapid antigen testing
- Nasopharyngeal: respiratory viruses
- Throat: group A streptococcus
- Stool: rotavirus
o Throat culture
o Blood: complete blood count, blood culture, C-reactive protein,
sedimentation rate
o Urine: urinalysis, culture
o Stool: hemocult, culture
o Cerebrospinal fluid: cell count, glucose, protein, Gram stain,
culture
ƒ Chest radiograph or other imaging study
(Nelson textbook of pediatrics)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Page | 141 Illustrated Baby Nelson

Fever without focus

Definition
Fever without a focus refers to a rectal temperature of 38oC or higher as the sole
presenting feature
Categories
1. Fever of unknown origin
Children with fever documented by a health care provider and for which
the cause could not be identified after 3 wk of evaluation as an outpatient
or after 1 wk of evaluation in the hospital
2. Fever without Localizing Signs
Fever of acute onset, with duration of <1 wk and without localizing signs
Fever without localizing focus
Common causes
ƒ Viral infection
ƒ Occult bacteremia
ƒ Bacterial infections e.g.
- Ear infection
- Urinary tract infections
- Meningitis
- Pneumonia
- Osteomyelitis
- Septic arthritis
Management
Hospitalize
o Neonates
o Any toxic child
Medical history for
o Appetite
o Activity
o Reactivity to others
o Recent contact with diseased
o Immunization history
Physical examination for
o Look: normal /active ( ? viral illness) or sick/inactive ( ? bacterial illness)
o Color and perfusion

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Page | 142 Illustrated Baby Nelson

o Level of arousal
o Cry quality
Investigations
a. CBC for leucocytosis(>15000 cell/mm3) , bandemia (band cells >20%) or
leucopenia (<5000 cell/mm3) usually indicate bacterial infections
b. C reactive protein(CRP) usually negative in viral infections
c. Urinalysis for leukocyte esterase, nitrite and pyuria (>10 WBC/HPF)
d. Stool analysis for cases with diarrhea
e. Cultures (urine, stool, blood, CSF)
f. Chest X ray for any infiltrates
Start empiric antibiotics for
1. Neonates
2. Toxic children
3. Young children who have not received Hib and S. pneumoniae vaccines
and who have a rectal temperature of >39oC and leucocytosis

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 143 Illustrated Baby Nelson

Primary Immunodeficiency Disorders

ƒ Primary immune deficiency due to defects in innate or adaptive immunity
ƒ Secondary immune deficiency are acquired by a range of mechanisms,
including immunosuppressive drugs, hyposplenism, chronic illness or viral
infection e.g. HIV
Warning signs of primary immune deficiency include:
 Four or more new ear infections within 12 months
 Two or more serious sinus infections or pneumonia within 1 year
 Two or more invasive infections (meningitis,osteomyelitis, sepsis)
 Infections that present atypically or with unusual severity
 Recurrent deep skin or organ abscess
 Severe or long-lasting warts or molluscum
 Persistent mucocutaneous candidiasis after 1 year of age
 Episode of infection with an opportunistic pathogen
 Need for intravenous antibiotics to clear infection
 Prolonged/recurrent diarrhoea
 Failure of an infant to gain weight or grow normally
 Complication after live vaccination (disseminated BCG, varicella,
paralytic polio, rotavirus)
 Unexplained autoimmune disease
 Positive family history suggestive of primary immunodeficiency

I. Antibody deficiencies
Criteria
 Typically present after 6 months of age.
 Increased susceptibility to bacterial infections such as Streptococcus
pneumoniae, H. influenzae, Pseudomonas and Mycoplasma. Also increased
susceptibility to enteroviruses and Giardia lamblia
Examples and Presentation Findings
X-linked Agammaglobulinaemia (Bruton’s disease)
 B-cell development blocked. • IgG, IgM, IgA Ļ
 Typical presentation 6 months to 5 years with recurrent • Absent B cells
sino pulmonary bacterial infections • Absent isohaemagglutinins
 Hypoplastic tonsils • BTK gene mutation
Selective IgA deficiency
 Recurrent upper respiratory tract infections at age > 4yrs • IgA absent, normal IgG,
 Increased frequency of allergies and autoimmunity IgM
 May be asymptomatic • Normal vaccine responses

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Page | 144 Illustrated Baby Nelson

Treatment
 Supportive care : Antibiotics according to cultures and sensitivity
 Periodic immunoglobulin infusions
II. T Cell defects
Criteria
 Recurrent infections can occur in 1st 4 – 6 mo of life.
 Failure to thrive is common.
 Mostly due to disseminated viral, fungal, parasitic & certain bacterial
infections
Example Findings
DiGeorge syndrome (CATCH 22)
 Absent/hypoplastic Thymus with variable T-cell • Lymphopenia (<1500/mm3)
immunodeficiency from SCID-like (complete • Lymphocyte subsets and
DiGeorge) to normal via a partial deficiency. Presents proliferation variable
any time from neonatal with viral and fungal infections. • Associated with chromosome
 Cleft palate 22q11.2 deletion or with
 Hypocalcaemia (>3 weeks, requiring therapy). CHARGE syndrome
 Conotruncal cardiac defect e.g. Pulmonary stenosis
 Facial dysmorphic (Abnormal) features
Chronic muco cutaneous candidiasis
 Impaired T-lymphocytes response to candida antigen • Impaired candida albicans
although their response to other antigens normal intradermal skin test,
 Chronic candidiasis otherwise rest of T cell
 Endocrinopathies : Hypoparathyriodism ,Addison, functions and lymphocytes
IDDM count are normal
Treatment
 Supportive care : Antibiotics according to cultures and sensitivity
 Thymic tissue or stem cell transplantation/Gene therapy

III. Combined immunodeficiency

ƒ Defective both B cells and T cells lymphocytes
ƒ Increased susceptibility to:
 Bacteria: Streptococcus pneumoniae, Haemophilus influenzae, Gram-
negative Enterobacteriaceae and intracellular pathogens such as
Salmonella, Mycobacteria, Cryptosporidium, Pneumocystis Jiroveci
 Viruses: Respiratory (e.g. parainfluenza, RSV), enteric (e.g. rotavirus),
systemic (e.g. CMV, EBV)
 Fungi: Candida species

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 145 Illustrated Baby Nelson

Example Findings
Severe combined immunodeficiency (SCID)
 Development of lymphocytes blocked by genetic defects. • Lymphopenia,
 Presents within the first 6 months of life with faltering hypogammaglobulinaemia
growth, persistent diarrhoea and recurrent • Abnormal lymphocyte
mucocutaneous candidiasis or with severe pneumonitis subsets (absent T cells,
(viral or Pneumocystis Jiroveci). +/íB, +/íNK cells –
 Commonly fatal if not recognized and managed early depending on type of
SCID)
• Various genetic defects
Wiskott–Aldrich syndrome
 Presents in early infancy, usually with bleeding/ bruising, • Thrombocytopenia with
recurrent respiratory infections, HSV and EBV small platelets
infections. • Abnormal polysaccharide
 Associated with vaccine responses
1. Bloody diarrhea, eczema in early infancy • IgEĹ, IgAĹ, IgMĻ
2. Autoimmune manifestations (vasculitis, hemolytic • T-cell number and function
anemia) progressively declining
3. Malignancy (leukemia, lymphoma, EBV-driven • Mutation in WASP gene
brain tumors)
Ataxia telangiectasia
 Recurrent respiratory infections in 2nd year of life. • IgAĻ
 Associated with • Increased radiation-induced
1. Ocular or facial telangiectasia chromosomal breakage in
2. Progressive cerebellar ataxia cultured cells
3. Increased risk of leukemia and lymphoma • Į-fetoproteinĹ
• Mutations in ATM gene

Treatment
 Supportive care: e.g. Antibiotics according to cultures and sensitivity,
Anti-viral agents,…
 Periodic immunoglobulin infusions
 Stem cell transplantation/Gene therapy

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 146 Illustrated Baby Nelson

IV. Neutrophil defects

ƒ Defective killing function of phagocytes
ƒ Increased susceptibility to:
 Bacteria: Staphylococcus, Pseudomonas and other Gram-negative
Enterobacteriaceae.
 Fungi: Candida, Aspergillus species

Example Findings
Chronic granulomatous disease (CGD)
 Defect of pathogen killing within macrophage. • Neutrophil oxidative burst
 Presents usually before 5 years of age with recurrent, absent
deep-seated infections (liver, perirectal or lung • Nitro blue-tetrazolium test
abscess, adenitis, osteomyelitis). negative
 Diffuse granulomata in respiratory/gastrointestinal/ • Molecular defect is X-
urogenital tract linked in two thirds and
 Hepatosplenomegaly, lymphadenopathy autosomal recessive in one
 Failure to thrive third
Leukocyte adhesion deficiency
 Leukocytes unable to attach to vascular endothelium • Neutrophil counts
and leave circulation. persistently above normal
 Typically presents in neonatal period with delayed range.
umbilical cord separation and sepsis. • Leukocyte CD18 and D15a
 Recurrent/persistent bacterial or fungal infections expression < 5%
with absence of pus, defective wound healing • Lack of ȕ2 integrin
 Periodontitis. expression

Treatment
 Supportive care: e.g. Antibiotics according to cultures and sensitivity,
Anti-viral agents, Anti Fungal, Prophylaxis for pneumocystis jiroveci…
 Granulocyte transfusion
 Stem cell transplantation /Gene therapy

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 147 Illustrated Baby Nelson

V. Innate immune defects

Increased susceptibility according to specific defect

Complement deficiency
 Can present at any age • Complement function tests
 Severe bacterial infections with Neisseria species in • Mannose-binding lectin
alternative, lectin and early classical pathway (MBL)
deficiencies. • C4 level invariably low in
 For early classical deficiencies also increased HAE.
susceptibility to encapsulated bacteria. • C1 inhibitor protein and
 Lupus-like disease with classical pathway function tests confirm HAE
deficiencies.
 Hereditary angioedema (HAE) with C1 esterase
inhibitor deficiency. HAE presents typically in mid-
childhood (5–10 years
Hyper-IgE syndrome (Job syndrome)
 Usually presents before 5 years of age but may • IgEĹ
present later • Lymphocyte subsets and
 Mucocutaneous candidiasis in infancy proliferations usually
 Recurrent or persistent respiratory infections, normal
pneumatocoele formation • Dominant mutations in gene
 Pathological fractures, scoliosis encoding STAT3
 Eczema
 Increased malignancy risk
Treatment
Supportive care: e.g. Antibiotics according to cultures and sensitivity
Vaccination against capsulated organisms is vital in complement deficiency

(The Science of Paediatrics; RCPCH Mastercourse by Tom Lissuare 2016)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
 ‫‪Vaccinations‬‬

‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‪.‬‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ ‫ﺭﻓﻌﻪ ﺩ‪ .‬ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‪.‬‬

‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‪14‬‬
Page | 148 Illustrated Baby Nelson

Compulsory Vaccines (As per Egyptian MOH protocol)

BCG Oral polio vaccine DTaP Hepatitis B vaccine MMR*
Nature Live attenuated T.B Trivalent live attenuated Diphteria & tetanus Recombinant HBs Ag Live attenuated
bacilli (bacilli of polio virus types 1,2,3 toxoids with acellular prepared by DNA measles, mumps and
Calmette & Gaurin) (Sabin vaccine) pertussis vaccine (DPT technology. rubella grown
is no longer used) in chicken embryo
tissue culture
Indications Compulsory Vaccination Started during the 1st year of life
- Chronic blood recipients
- IV drug abusers
- Hemodialysis patients.
0.05 ml in neonates 3 drops oral 0.5 ml I.M in left thigh - 0.5 ml before 10th year. - 0.5 ml S.C in upper
0.1 ml in elders - 1 ml afterwards. right arm
Administration
Intradermal in left IM (in left thigh/deltoid )
upper arm.
1ry doses In the 1st 3 months Zero dose at 0-15 days. 2,4,6 months 2,4,6 months (in other 12-18 months
2,4,6 months conditions 0,1,6 months).
At beginning of - At 18 months - At 18 months At 4-6 years
Booster doses every school period - At 4 years (frequent - At 4 years(DT)
for tuberculin –ve doses is recommended)
Reaction Small papule which No reaction; but values; - Fever ,local tenderness - Local reaction : pain - Mild fever
crust then disappear - Low cost - Irritability and crying tenderness, swelling & - Faint skin rash
in 8-12 weeks - Give both local & for > 3 hours. erythema. may occur 1-2
leaving permanent humoral immunity. - Shock like; hypotonic - Fever weeks after
scar. - Virus excreted in hyporesponsive - Headache vaccination o last
stool o transmitted episode for 1-2 days.
to others o - Convulsions
community immunity. - Encephalopathy.
Page | 149 Illustrated Baby Nelson

BCG Oral polio vaccine DTaP Hepatitis vaccine MMR

Complications x Regional (axillary) x Failed vaccine due to Severe previous reaction x Failed vaccine due x Encephalitis.
lymphadenitis Ÿ - defect storage (usually due to pertussis to:- defect storage
need INH - vomiting or diarrhea vaccine) - injections in
x Abscess formation x Vaccine associated buttocks
x Dissiminated paralytic polio
infection if given to (incidence: 1/ 750.000)
immunodef. Or
improper attenuation
Ÿ need anti- TB.
Drugs.
General contraindications and precautions
— Contraindications to all vaccines — Contraindications to live virus vaccines
- Serious allergic reaction (e.g., anaphylaxis) after a previous vaccine dose - Immunosuppressed patient (immunosuppressive therapy
- Serious allergic reaction (e.g., anaphylaxis) to a vaccine component or diseases ; acquired or congenital)
- Malignancy or current chemotherapy
— Precautions: Moderate or severe acute illness with or without fever - Pregnant mother or planned pregnancy within 28 days
Additional x Tuberculin +ve x Immunodeficient See later See later See later
contraindications reactors contacts
x Premature. x In nurseries
Other forms Inactivated polio TdaP and Td contain ProQuad vaccine;
vaccine (Salk): reduced dose diphtheria MMRV (contain
* Dose Ÿ 0.5 ml S.C. toxoid to be given as varicella vaccine
* Given if sabin vaccine is boosters to adolescents as well) licensed
contraindicated when pertussis vaccine is in children 1-12
* Dose of Salk before OPV unnecessary years.
reduce OPV associated
paralysis by 90%
Page | 150 Illustrated Baby Nelson

Specific contraindications and precautions to commonly used vaccines

Vaccine True contraindications and precautions
DTaP Contraindications
- Encephalopathy (e.g., coma, prolonged seizures)
- Progressive neurologic disorder, including infantile spasms, uncontrolled epilepsy,
(Decision: defer DTaP until neurologic status stabilized)
Precautions
- Fever of > 40.5 °C d 48 hours after receiving a previous dose
- Shock like state d 48 hours after receiving a previous dose
- Seizure d 3 days of receiving a previous dose
- Persistent crying lasting t 3 hours d 48 hours after receiving a previous dose
MMR Contraindications
- Known severe immunodeficiency ( However the vaccine is allowed:- 1 month after cessation of high dose steroids,3 months
off chemotherapy and for HIV cases who are not severely immunosuppressed with &'SHUFHQWDJHV•IRU•PRQWKV)
- Malignancy or current chemotherapy
- Pregnancy or planned pregnancy within the next 28 days
- Persons with anaphylactic egg or neomycin allergy
Precautions
- Recent (d 11 months) receipt of antibody-containing blood product
- Thrombocytopenia
Hepatitis B Contraindication
- Pregnancy
- Autoimmune disease (e.g. systemic lupus erythematosis)
Precautions
- Infant weighing < 2,000 grams

(Current Pediatrics textbook)

Page | 151 Illustrated Baby Nelson

Other Vaccines (Non Compulsory in Egypt)

General indications: - High risk patients - Household contacts - Travelers to endemic areas
Vaccine Nature Dosage ( 0.5 ml ) Other indications /notes
Heamophilus influenza type B Antigenic part of the capsule - IM
(HiB) vaccine $ - At 2,4,6 months * Routine immunization
- Booster dose at 15 mo. * Functional or anatomic
asplenia
13-valent pneumococcal conjugate Capsular polysaccharide antigen - IM
* Immune compromised e.g
vaccine (PCV13); Prevnar* of 13 pneumococcal serotypes
Complement deficiency
Meningeoccocal vaccines Purified capsular polysaccharide - SC (local erythema is a
(MCV4 And MenB) of types A, B, C, Y, W135 common side effect)
Hepatitis A Inactivated - I.M.; 2 doses 6 months apart Children with chronic
(Havrix or Vaqta) - Given above 1 year hepatitis B or C infections or at
high risk of their infections.
Typhoid vaccines
1- Vi capsular vaccine Conjugated vaccine - I.M single dose Drawbacks :
- Given above 2 years * Short period of effectiveness
2- TY 21a Live attenuated - Oral single dose. * Fever , headache , malaise
3- TAB vaccine Heat phenol inactivated - ¼ ml SC ; 2 doses 1 mo. apart
Influenza vaccine** Inactivated viruses - IM ;1 dose ( 2 doses 1 mo apart * Chronic lung diseases
for children < 9 years who * Patients on long term aspirin.
didn’t get the vaccine before) * Annual shots for seasonal flu
- Dose for 6 mo to 3 years (0.25 protection
ml) , Dose > 3 years :0.5 ml
- Common type for season
Chicken pox vaccine Live attenuated - SC * Routine immunization of
- Two doses: 3 months apart for children •12 months of age
children 12 months -12 years * Patients on long term aspirin
And 4 weeks apart for children * Post exposure prophylaxis if
•\HDUV. given within 3-5 days of
exposure with efficacy of 95%
Page | 152 Illustrated Baby Nelson

$
Hib vaccine is not generally recommended for children 5 years of age or older.

* A 23-valent pneumococcal unconjugate polysaccharide Vaccine (Pneumovax23)

- Its use in children is limited to those with certain chronic medical conditions not for routine immunization (e.g., heart
disease or diabetes), immunocompromising conditions, cerebrospinal fluid leaks, or cochlear implants
- It does not produce a long-lasting immune response and does not reduce nasopharyngeal carriage.
- Licensed in children above 2 years

** Influenza vaccine
- May be complicated with self-limited fever, malaise or local reactions
- Recent guidelines: Children with only hives following exposure to egg can be vaccinated provided :
1. The inactivated influenza vaccine is used
2. Vaccination is by a health care provider experienced in recognizing and treating allergic reactions
3. The child is observed for 30 minutes following vaccination.
Children with more serious allergic reactions to egg, such as angioedema, respiratory symptoms, or anaphylaxis, may be
eligible for inactivated influenza vaccine but after full assessment by an allergist for vaccine risk.

Rota virus vaccine (Rotarix)

ƒ Live attenuated
ƒ Given orally; 2.5 ml/dose
ƒ Two doses 4 weeks apart
ƒ The first dose must be before 5 months and final dose must be before 6 months
ƒ Efficacy: 70 %
ƒ Complications: loose stool and low grade fever
ƒ Avoided in gastro enteritis, immunodeficiency, anaphylaxis and beyond 6 months
Page | 153 Illustrated Baby Nelson

Rabies vaccine
ƒ After symptoms of infection develop, rabies is almost invariably fatal in humans
ƒ Human rabies is preventable with appropriate and timely postexposure prophylaxis the immunity persists for 2 years or more.
ƒ Two inactivated preparations are licensed in the United States.
1. Imovax Rabies :Human diploid cell vaccine (HDCV)
2. RabAvert :Purified chick embryo cell vaccine (PCEC)
Protocol:
- 1 mL is given intramuscularly on the day of exposure (day 0) and on days 3, 7, and 14 following exposure.
- Immune suppressed individuals should receive an additional dose on day 28
- Rabies Immunoglobulin (RIG) should also be given as soon as possible after exposure (20 IU/kg) ; most of the dose is
infiltrated into and around the wound and the rest is given IM
- In previously vaccinated individuals—RIG should not be administered, and only two doses of vaccine on days 0 and 3 after
exposure are needed
N.B: Vaccination in immunodeficient Children
ƒ Congenitally immunodeficient children should not be immunized with live-virus vaccines (oral polio vaccine [OPV, available only
in developing countries], rotavirus, MMR, VAR, MMRV, yellow fever) or live-bacteria vaccines (BCG or live typhoid fever
vaccine).
ƒ Depending on the nature of the immunodeficiency, other vaccines are safe, but may fail to evoke an immune response.
ƒ Children with cancer and children receiving high-dose corticosteroids or other immunosuppressive agents should not be vaccinated
with live-virus or live-bacteria vaccines.
ƒ Live-virus vaccines may also be administered to previously healthy children receiving:
1. Low to moderate doses of corticosteroids (defined as up to 2 mg/kg/day of prednisone or prednisone equivalent, with a
20 mg/day maximum) for less than 14 days
2. Children without other immunodeficiency receiving short-acting alternate-day corticosteroids
3. Children being maintained on physiologic corticosteroid therapy
4. Children receiving only topical, inhaled, or intra-articular corticosteroids.
‫‪Neonatology‬‬
‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‪.‬‬
‫ﺩﻋﻮﺍﺗﻜﻢ‬ ‫ﺭﻓﻌﻪ ﺩ‪ .‬ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‪.‬‬

‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‪14‬‬
Page | 154 Illustrated Baby Nelson

NeonatalResuscitation
Neonatal Resuscitation
Introduction
- Resuscitation is the immediate steps performed to optimize newborn airway,
breathing & circulation after birth
- A person skilled in basic neonatal resuscitation, whose primary responsibility is the
newly born baby, should be present at every birth
- Completion of the Newborn Resuscitation Program (NRP) of the American
Academy of Pediatrics/American Heart Association by every caregiver helps ensure
a consistent approach to resuscitations and team-based training
- NRP Flow Diagram follow A-B-C (Airway-Breathing-Compressions) when other
programs follow C-A-B (Compressions-Airway-Breathing) because the vast
majority of newborns who require resuscitation have a healthy heart
Routine care of delivered baby
ƒ Receive the baby in a pre-warmed towels
ƒ Place the newborn on the warming table.
ƒ Dry the infant completely and discard the wet linens; Ensure that the infant remains
warm. Extremely small infants may require extra warming techniques such as
wrapping the body and extremities in a plastic wrap or bag or the use of an
exothermic mattress
ƒ Place the infant with head in midline position, with slight neck extension
ƒ Suction the mouth, oropharynx, and nares thoroughly with a suction bulb if there is
obvious obstruction or the baby requires positive pressure ventilation.
x Quick evaluation of the infant by Apgar scoring
* At 1 minute o Reflects the need for resuscitation (????)
* At 5 minutes o Reflects adequacy of resuscitative efforts.
o May predict the neurologic outcome
Sign 0 1 2
Color (Appearance) Blue or pale Pink with blue Completely pink.
extremities.
Heart rate (HR; Pulse) Absent Under 100 / min over 100 / min
Response to nasal catheter No response Grimace Cough, sneezing.
(Grimace)
Muscle tone (Activity) Limp (flaccid) Some flexion Well flexed
Respiration Absent Slow , irregular Normal and crying

“Resuscitation if required, it should be initiated immediately after birth without

delay or pending APGAR scoring at 1 minute” Mohamed El Koumi

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
‫‪Page | 155‬‬ ‫‪Illustrated Baby Nelson‬‬

‫‪Sequence of intervention‬‬
‫)‪(NRP 2017‬‬

‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‪.‬‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ ‫ﺭﻓﻌﻪ ﺩ‪ .‬ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‪.‬‬

‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‪14‬‬
Page | 156 Illustrated Baby Nelson

The NRP recommends that at the time of birth, the baby should be assessed by
posing three basic questions:

1. Full term?
2. Good muscle tone?
3. Breathes spontaneously
or crying?

1. If the answer to all questions are YES: Provide routine care:

x Dry the baby
x Provide warmth (wrapping)
x Position the head and neck to open the airway
x The infant should be placed on the maternal chest or abdomen
x The cord should not be clamped and divided until at least 30 to 60 seconds
have passed.
x IM Vitamin K (if consented)
x Continue evaluation

2. If the answer to ANY of these questions is NO: The initial steps of

resuscitation should start:
ƒ Dry the baby
ƒ Provide warmth (wrapping -warmer – plastic bags for preterm)
ƒ Position the head and neck to open the airway
ƒ Clear secretions if needed (mouth then nose)
ƒ Tactile stimulation for compromised breathing by flicking of the soles of
the feet or rubbing the back.

If breathing does not start after two attempts at tactile stimulation, the baby
should be considered to be in secondary apnea, and respiratory support
should be initiated

N.B: For those infants who require resuscitation beyond the initial steps because
of inadequate or absent respiratory effort, the cord should be clamped and divided
shortly after birth

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 157 Illustrated Baby Nelson

1. Apnea / Gasping?
Or
2. Heart rate <100 bpm?

1. NO ĺBreath spontaneously with HR >100 BUT labored breathing Or

Cyanosis
x Position airway And Clear secretions if needed
x Attach pulse oximeter to right hand ĺ0RQLWRU6SO2
x Supplemental oxygen as needed.
As a rule LIR[\JHQLVUHTXLUHGGXULQJUHVXVFLWDWLRQĺstart with room
air as the initial concentration for babies •weeks and 21% to 30%
oxygen for babies < 35 weeks' gestation, increase gradually to keep SpO2
lie within the minute-specific reference range advised by the NRP
x Consider CPAP
x Post resuscitation care (Indicated for all cases requiring resuscitation)

2. YES ĺThere is Apnea or Gasping or HR < 100 bpm

ƒ Call for help
ƒ Ensure the baby is dry, warm and the airway is patent
ƒ SpO2 and ECG monitor
ƒ Provide positive pressure ventilation (PPV):
- Begin with an inspiratory pressure of 20- 25 cmH2O at rate of 40-60
breath per second for 30 seconds
- Using bag and face mask or T-piece resuscitator (Neopuff)
The most important indicator of successful PPV is a rising heart rate

N.B: Indications for PPV:

1. Apnea or gasping
2. Heart rate < 100 bpm
3. Oxygen saturation below the target range despite free-flow oxygen or CPAP
When indicated, PPV should be started within 1 minute of birth

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 158 Illustrated Baby Nelson

HR is increasing
Ļ
HR still < 100 bpm Continue PPV and do your
second assessment of the
baby’s heart rate after
another 15 seconds

HR at least 100bpm
ƒ Check chest movements with PPV Ļ
ƒ If chest is not moYLQJĺVentilation corrective steps: - Continue PPV 40–60
- Mask adjustment breaths/min until
- Reposition airway spontaneous effort
- Suction mouth and nose - Consider CPAP
- Open mouth - Post resuscitation care
- Pressure increase
- Alternative Airway: Place an endotracheal tube or laryngeal mask
ƒ Continue PPV (via endotracheal tube or laryngeal mask if needed)

If HR < 60 bpm

ƒ Start chest compressions:

- Indicated if the baby’s HR remains < 60 bpm after at least 30 sec. of PPV that
inflates the lungs as evidenced by chest movement with ventilation
- Depth of compressions is about 1/3 of the antero-posterior diameter of the chest
- The goal is to give 90 compressions per minute and 30 ventilations per minute
(3compressions and 1 ventilation every 2 seconds)
ƒ Continue PPV via endotracheal tube with 100% oxygen
ƒ ECG monitor

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 159 Illustrated Baby Nelson

1 minute after starting coordinated effective chest compressions and ventilation

Heart rate > 60 bpm and rising o stop

HR remain < 60 bpm cardiac massage and continue PPV till
spontaneous respiration is regained

ƒ Insert umbilical venous catheter and:

ƒ Send sample for pH, blood gases, Hb and glucose
ƒ Give Epinephrine
Epinephrine is indicated if the baby’s heart rate remains below 60 bpm after
• At least 30 seconds of PPV that inflates the lungs (moves the chest),
And
• Another 60 seconds of chest compressions coordinated with PPV using 100%
oxygen
Dose: 0.1 – 0.3 ml/kg of 1:10.000 solution (equal to 0.01 to 0.03 mg/kg)
Route: intravenous or Intra osseous
Endotracheal route is less effective; dose would be 0.5-1 ml/kg

1 minute after epinephrine and continued chest compressions and ventilation

If no improvement (HR< 60 bpm) Improvement

o Repeat epinephrine every 3 to 5 x Continue PPV and
minutes compressions till HR
o Consider hypovolemia ; Push 10 stabilize > 60 bpm
ml/kg saline IV ( or O negative x Mechanical ventilation or
packed red cells if perinatal blood loss assisted ventilation
suspected or Hb% is low) x Post resuscitation care
o Consider pneumothorax

“If there is a confirmed absence of heart rate after 10 minutes of resuscitation, it

is reasonable to stop resuscitative efforts; however, the decision to continue or
discontinue should be individualized “ (NRP 2017)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 160 Illustrated Baby Nelson

Post resuscitation care

Babies who required supplemental oxygen or PPV after delivery should:
- Be evaluated frequently during the immediate newborn period.
- They often require ongoing respiratory support, such as supplemental
oxygen, nasal continuous positive airway pressure (CPAP), or mechanical
ventilation and admission to nursery or NICU
Medical conditions may occur in babies who required resuscitation
Organ System Management Considerations
Neurologic Monitor for apnea.
- Apnea Support ventilation as needed.
- Seizures Monitor glucose and electrolytes.
- Irritability Consider anticonvulsant therapy.
- Poor tone Consider therapeutic hypothermia.
- Poor feeding Consider delayed initiation of feedings and use of
intravenous fluids
Respiratory Maintain adequate oxygenation and ventilation.
- Respiratory distress Consider antibiotics.
- Low oxygen saturation Consider x-ray and blood gas.
- Pneumothorax Consider surfactant therapy.
Consider delayed initiation of feedings and use of
intravenous fluids
Cardiovascular Monitor blood pressure and heart rate.
- Hypotension Consider volume replacement or inotrope
- Tachycardia administration if baby is hypotensive
Renal Monitor urine output.
- Decreased urine output Monitor serum electrolytes as indicated.
- Edema Monitor weight.
- Electrolyte abnormalities Restrict fluids if baby has decreased urine output
and vascular volume is adequate
Gastrointestinal Consider abdominal x-ray.
- Feeding intolerance Consider delayed initiation of feedings and use of
- Abnormal liver function tests intravenous fluids.
- Gastrointestinal bleeding Consider parenteral nutrition
Metabolic Monitor blood glucose.
- Metabolic acidosis Monitor serum electrolytes as indicated.
- Hypoglycemia Consider intravenous fluids.
- Hypocalcemia Replace electrolytes as indicated
- Hyponatremia
- Hyperkalemia
Hematologic Monitor hematocrit, platelets and coagulation
- Anemia studies as indicated
- Thrombocytopenia
- Delayed clotting,

Hypothermia Delay bathing.

(NRP 2017)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
 Page | 161 Illustrated Baby Nelson

Self-assessment questions by NRP

Question 1
A. A newborn is apneic. She does not improve with initial steps, and PPV is started. The first
assessment of heart rate is 40 beats per minute. After 30 seconds of positive-pressure
ventilation that moves the chest, her heart rate is 80 beats per minute. Chest compressions
(should)/(should not) be started. Positive pressure ventilation (should)/(should not) continue

B. A baby has received chest compressions and coordinated ventilation. You briefly stop
compressions and the electronic cardiac (ECG) monitor shows the baby’s heart rate is 80
beats per minute. You should (continue)/(stop) chest compressions. You should
(continue)/(stop) positive-pressure ventilation

C. Ventilation that moves the chest has been performed through an endotracheal tube for 30
seconds and continued with chest compressions and 100% oxygen for an additional 60
seconds. If the baby’s heart rate remains below (60 beats per minute)/(80 beats per minute),
you should give epinephrine while continuing chest compressions and ventilation

D. In the absence of shock or a history of acute blood loss, routine administration of a volume
expander (is)/(is not) recommended

E. Your team is resuscitating a baby born at term. His heart rate is 40 beats per minute after
ventilation through an endotracheal tube and coordinated chest compressions. You
determine that epinephrine is indicated. Your team should (quickly attempt to place a
peripheral intravenous catheter in his right hand)/(insert an umbilical venous catheter or an
intraosseous needle).

Question 2
A. You have turned on the radiant warmer in anticipation of the birth of a baby at 27 weeks’
gestation. List 3 additional steps that will help maintain this baby’s temperature.
a. ___________________________________
b. ___________________________________
c. ___________________________________

B. A baby is delivered at 30 weeks’ gestation. At 5 minutes of age, she is breathing, has a heart
rate of 140 beats per minute, and is receiving CPAP with 30% oxygen. An oximeter on her
right hand is reading 95% and is increasing. You should (decrease the oxygen
Concentration)/(begin positive-pressure ventilation).

C. A baby is born at 26 weeks’ gestation. The initial steps of care, including gentle stimulation,
have been completed and he is nearly 1-minute old. He is not breathing and his heart rate is
80 beats per minute. You should (start CPAP with a face mask)/ (start positive-pressure
ventilation).

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
 Page | 162 Illustrated Baby Nelson

Primitive Reflexes
Idea
x Primitive reflexes are automatic stereotypic movements directed from the
brainstem and require no cortical involvement
x They are needed for survival and development in the early months of life
x As the higher cortical centers begin to mature o successive disappearance of
these reflexes take place allowing proper neurological development

Moro (Startle) Reflex

x Present at birth and disappears by 5- 6 months of age
x Start to develop intrauterine at 32 weeks and fully mature at 37 weeks
x Stimulus
ƒ The head is gently lifted then released
suddenly into examiner’s hand (avoid in
preterm & suspected intra cranial
hemorrhage)
ƒ Sudden withdrawal of the blankets from
underneath the infant
ƒ Making a loud noise near the ear

x Response
ƒ Extension of the trunk
ƒ Extension and abduction of the arms
Hhhhhhhh

with “fanning” of the fingers followed

by flexion and adduction “as if the
infant embraces himself ”
ƒ Loud crying may follow
x Clinical value
o 1RUPDOUHIOH[LQWKHQRUPDOWLPHIUDPHĺ1RUPDOneurodevelopment
o Abnormal reflex
- Sluggish in sedated newborn and sepsis
- Exaggerated in early kernicterus
- Unilateral (asymmetrical ) in Erb’s palsy, fracture clavicle or humerus
o Absent reflex (two sided)
- Premature < 28 weeks
- CNS depression by e.g. Anoxia, anesthesia or intra cranial hemorrhage
o Reflex persisting beyond 6 months is seen in neurodevelopmental disorders
e.g. cerebral palsy , autistic disorders

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 163 Illustrated Baby Nelson

Grasp Reflex
Palmar grasp reflex Solar grasp reflex
Present From birth to 2 months From birth to 10 months
Stimulus

Light touch to the palm Light touch to the sole

Response Grasp response
Clinical value x 1RUPDOUHIOH[LQWKHQRUPDOWLPHIUDPHĺ1RUPDO
newborn neurodevelopment
x Help estimation of the gestational age; develops at 28
weeks and become fully mature by 32 weeks gestation
x Absent in the same side of Klumpke’s palsy

Stepping Reflex

o Present at birth and disappear by 6th week of age

o Stimulus: Hold the baby upright with his soles
touching a flat surface
o Response: the baby starts walking movements

Placing Reflex

o Presents at birth and disappears by 6th week of age

o Stimulus: Hold the infant upright with one foot
touching a surface of table and the dorsum of other
foot touching the under edge of the table
o Response: The baby will flex then extend the leg
to place it on upper surface of the table

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
 Page | 164 Illustrated Baby Nelson

Rooting Reflex

o Present at birth and disappear by the 4th month of age

o Stimulus: Stroke the baby's cheek
o Response: The baby will turn towards the stimulus
and open his mouth, usually looking for food
o Retained reflex in older children is associated with
poor articulation and messy eaters

Spinal Galant Reflex

o Present at birth and disappear by 3-9 months of age

o Stimulus: lay the baby on his stomach and stroke along
one side of his spine.
o Response: The baby will flex sideways toward the
stimulated side
o Retained reflex in older children is associated with
inability to sit still (‘ants in the pants’ child), and possible
scoliosis

Asymmetric Tonic Neck Reflex (ATNR)

o Appear by the 1st month and disappear by the 6th

months of age
o Stimulus: While in supine ,Turn the baby’s head to
one side
o Response: The baby will extend the arm and leg on
this side while his other arm and leg will flex (fencer
position)
o Clinical Value
- It prepares the baby for future movements like
turning from back to front and vice versa
- Infant “stuck” in the fencing posture, is always abnormal and implies a
CNS disorder
- Retained reflex in older children is associated with possible scoliosis, and
poor handwriting in childhood

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
 Page | 165 Illustrated Baby Nelson

Landau Reflex

o Appear by the 3rd month and disappear by 24 months of

age
o Stimulus: hold the baby in a prone (face down) position
o Response: The baby will extend head, trunk and limbs
o Clinical value:
- A postural reflex that the infant needs to develop to sit
and walk independently.
- Absent in cerebral palsy

Parachute Reflex

o Present from 8-10 months and persist

o Stimulus: Hold the infant's trunk and then suddenly lower
the infant as if he is falling.
o Response: The arms will spontaneously extend to brake
the infant's fall, making
o Clinical value:
- Protective reflex (a prerequisite to walking)

(Reference: Nelson Textbook 2016, Pediatric Neurology Seminars, 2010)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 166 Illustrated Baby Nelson

Incubator care for critically ill neonate /very low birth weight
General care
O
x Temperature: 29-36 C ;depending on birth weight ; core temp :36.5-37 c
x Humidity : 60 - 80% ; reduce insensible water loss
x Minimal handling and strict anti septic measures

Support Respiration Support Circulation

x Supply oxygen as needed by: x Vascular access
Ambient oxygen x Intravenous fluids
Head box x Transfusions : packed RBCs, fresh
Nasal catheter/Vapotherm frozen plasma, albumin
x Assisted ventilation: CPAP, BiPAP x Inotrpes e.g. Dopamine /
x Mechanical ventilation dobutamine infusion
x Monitoring: pulse oximeter, Blood gases x Monitor :blood pressure, heart rate
and capillary refill time

Support Nutrition Specific treatment

x Expressed breast milk or formula by x Phototherapy for jaundice
nasogastric tube if enteral intake possible x Antibiotics for sepsis
x Total parenteral nutrition if enteral intake x Anticonvulsants for seizures
impossible( TPN consists of intravenous
infusion of dextrose,amino acids , lipid,
vitamins and minerals)

Monitoring
x Vital data
x Fluid balance: Daily hydration state , weight, urine output, serum sodium
x Bloods: Blood glucose, electrolytes, CBC, CRP, sepsis workup…
x Drug levels and TPN follow up lab

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
 Page | 167 Illustrated Baby Nelson

Birth Injuries
Cranial Injuries

1. Caput succedaneum
Subcutaneous fluid collection
Seen immediate after birth
Criteria

o Diffuse scalp swelling (cross the suture lines)

o Over the presenting part of the head
o Soft consistency
o May be with ecchymosis of the overlying skin

Treatment: Nothing required; it resolves in few days

2. Cephalhematoma
Sub-periosteal blood collection seen few hours after birth

Criteria
o Localized scalp swelling (never cross sutures
lines )
o Over any bone (commonly parietal or occipital)
o Firm consistency
o Possible associations:
- Linear fracture in 15-20%
- Anemia and jaundice (if large)

Treatment
x Observe ; most cephalhemaomas resolves spontaneously over 8 weeks
x Treat complications
- Blood transfusion for anemia
- Phototherapy for jaundice
- Antibiotics, Incision and drainage for infection
x Avoid diagnostic aspirationĺcarries risk of infection

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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 Page | 168 Illustrated Baby Nelson

3. Intracranial Hemorrhage (ICH)

Risk factors
o Birth trauma
o Bleeding disorder
o Perinatal asphyxia (esp. in premature)

Types
x Subdural hemorrhage
x Subarachnoid hemorrhage
x Germinal matrix hemorrhage / intraventricular hemorrhage (GMH/IVH):
- Mainly in preterm; mainly in the first 3 days of life
- Starts in the highly vascular periventricular germinal matrix then may
extend to the ventricular system.
Clinical picture
x Asymptomatic: Common; basically with GMH / IVH
x Mild hemorrhage
- Reduced spontaneous movements
- Hypotonia , poor suckling and Moro
- Apneas
- Anemia and fall of hematocrit
- Abnormal eye movements
x Severe hemorrhage
- Bulging fontanels
- Decerebrate posturing
- Hypotension, Collapse
- Hypoxia
- Seizures
Diagnosis
o Cranial CT scan or MRI
o Cranial ultrasonography:
- Very sensitive & quick in diagnosing GMH/IVH
 Infants <1,000 g are at highest risk and should undergo cranial
ultrasonography within the 1st 3-7 days of age
o Coagulation profile (PT, PTT, platelets)
o CBC for anemia

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
 Page | 169 Illustrated Baby Nelson

Prevention of IVH
x A single course of antenatal steroids for 24-34 wk pregnancies of gestation
that are at risk for preterm delivery
x Low-dose indomethacin (0.1 mg/kg/day for 3 days) to VLBW preterm
infants reduces the incidence of severe IVH
x Avoid fluctuation in cerebral blood flow by regulating blood pressure and
PaCO2
x Reduce infants fighting the ventilator by using synchronized ventilation
and minimal handling and minimal ETT suctioning
x Correct any coagulopathy
Treatment
x Supportive care in NICU
x Treat anemia with blood transfusion
x Correct any coagulopathy
x Consider starting inotropes e.g. Dopamine if hypotension persists
x Symptomatic treatment for e.g. seizures, raised intracranial tension
x Repeat cranial ultrasound at intervals (usually within 3-5 days then weekly)
x Neuro Surgical consultation

Nerve Injuries
1. Facial nerve injury
Peripheral facial nerve injury results in paralysis of whole face
on the same side:
x Inability to close the eye firmly

x Absent nasolabial fold.

x Asymmetric cry.
x Deviation of the mouth to healthy side

Treatment
x Care of the eyes with o eye drops & ointment.
x Care of feeding
x Physiotherapy o if persist more than 3 months o neuroplasty

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 170 Illustrated Baby Nelson

2. Brachial plexus injury

a. Duchenne-Erb’s palsy
o Injury to the upper nerve roots (C5, C6) of brachial plexus
o Paralysis of upper arm muscles with loss of abduction, external rotation
and supination
Criteria
Look: The arm is adducted, internally rotated and
pronated (Waiter’s tip posture)
Test: Lost Moro reflex, and preserved Grasp reflex
on the affected side
Association: Phernic nerve palsy in 75 % of cases
o Present with respiratory distress, and
predominant thoracic breathing
o Diagnosed by :chest x ray ( inspiration film)
and fluoroscopy (detect paradoxical movement)
Treatment
o Partial intermittent immobilization in opposite position i.e. abduction,
external rotation and supination (Statue of liberty splint)
o Physiotherapy after one week (after resolution of nerve edema) to prevent
muscles contractures
Prognosis
o Full recovery occur in more than 90% by 3 months
o If no improvement within 3 months, consult neurosurgery
b. Klumpke’s palsy
o Injury to the lower nerve roots (C7, C8, T1) of brachial plexus
o Paralysis of all intrinsic muscles of the hand
Criteria
Look: Claw-hand deformity
Test : Lost Grasp reflex, and preserved Moro
reflex on the affected side
Association: Horner syndrome if sympathetic fibers
of T1 are involved o ptosis, meiosis,
enophthaloms and anhydrosis

Treatment
o Hand is kept in neutral position with pad of cotton in the fist (hand writing
position)
o Physiotherapy

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 171 Illustrated Baby Nelson

Bone Injuries
Fracture clavicle
Commonest bone to be fractured in neonates especially if large and breech
Look:
x Bone irregularity and Crepitus on the affected side
x Pseudo paralysis of the affected limb
x May be excessively irritable newborn
Test: Moro reflex o Absent Moro on the affected side
Request: Chest X rayodiagnostic (soft tissue
ultrasound has equal sensitivity and safer)
Treatment
ƒ Decrease pain with analgesics
ƒ The infant's sleeve may be pinned to the shirt to limit movement until the
callus begins to form

Soft tissue Injuries

1. Liver or Spleen
Clinical picture - Severe pallor o up to hypovolemic shock .
- Indirect hyperbilirubinemia
- Abdominal distension with discoloration of abdominal wall.
- Abdominal ultrasound is diagnostic.(? paracentesis)
Treatment - Blood transfusion.
- Surgical exploration
2. Adrenal hemorrhage
Risk factors - Neonate adrenals are large, friable, highly vascular .
- Unilateral in 90%; mainly on the right side.
Clinical picture - Pallor
- Flank mass
- Adrenal insufficiency: vomiting , poor feeding , shock .
- Abdominal ultrasound /CT o diagnostic
Treatment - Blood transfusion
- Intravenous fluids
- Corticosteroids replacement

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 172 Illustrated Baby Nelson

Self assessment case scenarios

Case 3
This newborn infant develops tachypnea with cyanosis. She improves somewhat on oxygen
but has predominantly thoracic breathing movements, and the chest x-ray, which appears to
have been taken inadvertently at expiration, seems normal.
A. The procedure most likely to provide a specific etiologic
diagnosis is
1. Venous blood gas
2. CT scan of the head
3. Fluoroscopy of the chest
4. Bronchoalveolar lavage
5. Blood culture
B. What is the diagnosis?

Case 4
You are asked to review a baby on the postnatal wards
12 hours of age after a difficult breech delivery.
The baby was said to be fractious and is not feeding.
As a part of sepsis screen chest X ray was carried out
What is the diagnosis?

Case 5
A term 3.5 kg female baby at 34 hour of life was admitted for unexplained pallor and
abdominal distension, she was born to 29 years old mother by difficult breech vaginal
delivery and she had poor Apgar score at birth. On examination she was very pale
,jaundiced ,tachycardic and tachypneic. Abdominal examination revealed a smooth non
tender mass in the right flank with no evidence of free fluid. Hb% was 6.8gm/dl ,indirect
bilirubin 14 mg/dl, PT >30 seconds, PTT >60 seconds .Urea, creatinine and liver enzymes
were normal
a. What is the expected diagnosis?
b. What is the investigation of choice?
c. What are the 4 main initial lines of treatment?

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 173 Illustrated Baby Nelson

Neonatal Septicemia
Definition: Serious systemic infection of the newborn.
Classification
Early sepsis Late and nosocomial sepsis
Pattern Acquired before or during delivery (vertical Develop after delivery from
mother-to-child transmission) organisms acquired in the
hospital or the community
Onset In the 1st week (usually <72 hr) After the 1st week
Risk factors x Prematurity x Prematurity.
x Premature rupture of membranes > 18 hr. x Hospitalization
x Chorioamnionitis x Umbilical catheterization ,
x Maternal intrapartum fever •ƒ& or poor cord care
x Maternal bacteruria. x Endotracheal intubation
x Mechanical ventilation.
Organisms x Group B streptococci (GBS) x Staphylococcus Aureus.
x E.Coli x Hemophilus influenza
x Listeria monocytogenes x Klebsiella.
x Pseudomonas.
x Viral or candida
Clinical picture
1. Early manifestations Ÿ Non specific = Not doing well baby
Lethargy ; excessive sleepiness Poor Moro and suckling reflexes

Apneic attacks, pallor, cyanosis

Poor feeding & feeding intolerance
Unstable temperature (hypothermia
more common and more serious)
2. Late manifestations Ÿ Early manifestations plus more focal infections
Meningitis

Hepatitis
Direct hyperbilirubinemia Pneumonia
Hepatosplenomegaly
Septic shock / Septic renal
failure with oligoanuria and
Necrotizing enterocolitis metabolic acidosis

Sclerema = hardening of the

skin ( poor prognostic sign) Purpura / DIC

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 174 Illustrated Baby Nelson

3. Presence: of one or more risk factors especially in premature or mechanically

ventilated baby with persistent metabolic acidosis should suspect sepsis until
prove otherwise. (Antibiotics must be used till negative cultures are obtained).
Diagnosis

1. History : for risk factors

2. Clinical picture
3. Investigations
a. Sepsis screen: Septicemia is suggested when:
CBC findings
- Leucopenia < 5000/mm3 (with severe sepsis)
- Toxic granulations in neutrophils.
- Bandemia: Band cells (immature) >20% of total neutrophil count.
- Less commonly leucocytosis (> 30.000 / mm3)
- Thrombocytopenia
Markers of inflammation
- Serial determination of C-reactive protein (CRP)
- ESR
b. Detect causative organism by
- Cultures of Blood, CSF, urine, and endotracheal aspirate.
c. Evidence of Multiorgan System Disease
1- Pulmonary: Chest x ray for pneumonia, blood gases
2- CSF analysis, culture and gram stain for meningitis
3- Liver enzymes, bilirubin, ammonia, prothrombin time, PTT
4- Serum urea and electrolytes, blood glucose
Differential diagnosis
Other causes of critically ill neonate: THE MIS FITS
T : Trauma e.g. intracranial hemorrhage
H : Heart disease e.g. congenital ,hypoxic, hypovolemic
E : Endocrine e.g. congenital adrenal hyperplasia
M : Metabolic disturbances e.g. hypoglycemia , hypocalcemia
I : Inborn errors of metabolism
S : Sepsis
F : Fits(seizures)
I : Intestinal catastrophes e.g. intestinal obstruction, NEC
T : Toxins
S : Severe asphyxia

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 175 Illustrated Baby Nelson

Management
A. Prophylaxis
Maternal intrapartum ampicillin prevent perinatal transmission of GBS
Indications
x Previous infant with invasive GBS disease
x GBS bacteruria during current pregnancy
x Positive GBS screening culture during current pregnancy (unless a cesarean
delivery is performed before onset of labor or amniotic membrane rupture)
x Unknown GBS status at the onset of labor and any of the following:
o Delivery at <37 weeks’ gestation
o Amniotic membrane rupWXUH• hr
o ,QWUDSDUWXPWHPSHUDWXUH•ƒ&

B. Curative
1. Incubator care in neonatal intensive care unit (NICU)
(See before)
2. Specific treatment
x Immediate parenteral antibiotics are initiated after taking appropriate
cultures.
x Antibiotics are given according to culture and sensitivity(C/S)
x While waiting for C/S ; empiric antibiotic combinations is given:
o For early onset sepsis: Ampicillin plus Gentamicin
o For late onset sepsis: Vancomycin(or oxacillin) plus Gentamicin
o Some experts recommend antifungal prophylaxis with fluconazole for
particularly high-risk newborns—that is, those of extremely LBW
(<1000 g) and low gestational age (<27 wk).
o Third-generation cephalosporins such as cefotaxime or ceftazidime are
valuable additions for treating documented neonatal sepsis and
meningitis
o All antibiotics should be given for 10-14 days (3weeks for
meningitis).
o Dose and interval of antibiotics depends on birth weight and
gestational age
o Peak and trough levels of Gentamicin and Vancomycin are useful to
ensure therapeutic levels and minimize toxicity
3. Treatment of complications

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 176 Illustrated Baby Nelson

Necrotizing Enterocolitis (NEC)

Definition
Syndrome of acute intestinal necrosis of unknown cause usually affects sick
prematures with high mortality rate.
Risk factors
1. Prematurity
o The most important risk factor
o NEC affects 10% of infants < 1500 gm

3. Feeding
o Non breast feeding with
2. Intestinal ischaemia due to
hyperosmolar formula
o Perinatal asphyxia
o Aggressive enteral feeding
o Patent ductus arteriosus and
in prematures
indomethacin
o .Polycythaemia
o Umbilical catheterization

Pathogenesis
x Sloughing and necrosis of the intestinal mucosa
especially at terminal ileum and proximal colon

x Superadded infection (Klebsiella, E-coli, Clostridia,

& Viruses) Ÿ Gas formation within the bowel wall
o extensive bowel necrosis and Septicemia o
perforation & peritonitis

x Platelet activating factor, tumor necrosis factor and cytokines may play role

Clinical picture
Presentation is usually within 1st 2 weeks of life
A. Nonspecific Systemic signs: any combination of the following
x Apnea
x Lethargy
x Decreased peripheral perfusion
x Shock (in advanced stages)
x Cardiovascular collapse
x Bleeding diathesis (consumption coagulopathy)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 177 Illustrated Baby Nelson

B. Abdominal manifestations
x Feeding intolerance
x Delayed gastric emptying
x Abdominal distention ĹDEGRPLQDOJLUWK
x Abdominal tenderness
x Ileus/decreased bowel sounds
x Abdominal wall erythema (advanced
stages)
x Hematochezia
Investigations
A. Radiological
1. X-ray abdomen
x View: Antero posterior and lateral
x Should be done and repeated every 8 hours in the first 2 days
x Findings

Pneumatosis-intestinalis Pneumo-peritoneum (gas Intrahepatic portal venous

(gas in the intestinal wall) under the diaphragm) if gas
perforation occurred

2. Abdominal ultrasound
o Sensitive for pneumatosis-intestinalis but require skilled sonographer
o Doppler of the splanchnic arteries can distinguish very early NEC from
benign feeding intolerance in a mildly symptomatic baby
B. Laboratory findings
- Triad of thrombocytopenia, hyponatremia and metabolic acidosis.
- Stool examination for occult blood (Gauiac test).
- Sepsis workup: CBC, CRP and Culture of blood, stool, and CSF

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 178 Illustrated Baby Nelson

Sequalae of NEC
x GI sequelae include strictures, enteric fistulas, short bowel syndrome,
malabsorption and chronic diarrhea
x Survivors of NEC have significantly impaired motor and cognitive outcomes
Prevention: Best evidence exist only for
x Induction of prenatal GI maturation with prenatal corticosteroids
x Standardized enteral feeding guidelines (Avoid aggressive feeding in preterm)
x Exclusive use of human milk.
x Avoidance of acid blockade
x Minimization of empiric antibiotic exposure.
Enterally fed probioticsĺcontroversial (cannot be universally recommended)
Treatment

Admit o To NICU for full monitoring and supportive care

Stop x Enteral feedings for 7-14 days according to severity
Start o GIT rest and nasogastric decompression
o Intravenous fluids / Total Parenteral Nutrition (TPN)
o Broad-spectrum antibiotics for 10-14 days
o Typical combination include:
- Ampicillin /Gentamicin / Metronidazole.
Alternatively treatments include:
- Clindamycin, piperacillin-tazobactam, or
meropenem, sometimes in combination with
vancomycin.
Support x For respiratory failure (oxygen therapy, ventilation)
x For cardiovascular failure(fluid resuscitation, pressors)
Consult o Pediatric surgeon at the earliest suspicion of
developing NEC
(Manual of neonatal care 2017)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Page | 179 Illustrated Baby Nelson

Congenital Infections (TORCH)

Etiology

Toxoplasmosis Congenital Rubella Cytomegalovirus Herpes simplex type II

Toxoplasma gondii Maternal german DNA virus infection DNA virus infection
protozoan inhabit measles specially in can be: can be :
cats’ gut o oocytes the 1st trimester o Transplacental. o Transplacental
in their stool o o Perinatal o Contact with genital
contaminate food, o In breast milk lesions during vaginal
water & in raw meat deliveryo common
of infected cattles
General clinical features
A. History suggestive of congenital infection
ƒ Previous abortions or intra uterine fetal death
ƒ Maternal Fever ,Skin rash or Skin vesicles during pregnancy
B. General features suggesting congenital infection : may be
o Hepatosplenomegaly - Mental retardation
o Generalized lymphadenopathy. - Seizures
o Anemia - Microcephaly
o Thrombocytopenic purpura. - Chorioretinitis
o Hepatitis (Ĺconjugated bilirubin)

Low birth weight

x Intra uterine growth restriction
x Prematurity
General workup
x Detection of specific IgM or rising titer of specific IgG
x For clinical features e.g.
- CBC with differential WBCs count
- Fundus examination
- Liver enzymes and bilirubin
- Plain skull radiograph, CT, MRI
x Isolation of the causative organism

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Page | 180 Illustrated Baby Nelson

Congenital Toxoplasmosis
Clinical picture
x General features
x Hydrocephalus /Microphthalmia /Chorioretinitis
Diagnosis
x General workup
x Isolate of the organism from the blood
x Skull X-ray, CT: Diffuse calcifications
Treatment
A. Prevention
x Food hygiene
x Spiramycin for seropositive pregnant
B. Curative
x Symptomatic treatment
x Triple therapy for up to 1 year pyrimethamine ,folonic acid, sulphadiazine

Congenital Rubella Syndrome(CRS)

Clinical picture
x Even if asymptomatic infection occurs in the mother, rubella can be
transmitted across the placenta to the developing fetus.
x The earlier in gestation the infection occurs, the greater the injury
x 40% of fetuses infected during the first 8 weeks spontaneously abort
x Some infants at risk are normal
x Some appear normal at birth but later are found to have hearing loss
x Some are small for gestational age and at birth have congenital anomalies :
o Catarct, glaucoma, microphthalmia
o Sensorineural deafness , Miningeoencephalitis

Congenital heart disease

o PDA
o Pulmonary stenosis Chorioretinitis
(salt and pepper appearance)

o Hepatosplenomegaly In some cases a rubelliform rash or a

o Lymphadenopathy characteristic raised, bluish, papular
o Anemia eruption, termed a blueberry muffin
o Purpura rash, may be evident as the result of
o Hepatitis dermal erythropoiesis

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 181 Illustrated Baby Nelson

Prognosis
Survivors of rubella syndrome are highly likely to be deaf and have significant
psychomotor retardation
Diagnosis
x General workup
x Viral culture and specific IgM titers
Treatment
x Infants with congenital rubella are chronically infected and tend to shed
live virus in urine, stools, and respiratory secretions for up to a year.
Hence, they should be isolated when in the hospital and kept away from
susceptible pregnant women when sent home
x Symptomatic treatment
Prevention
x Rubella or MMR vaccine
x Pregnant exposed to German measlesĺDERUWLRQor I.V Immunoglobulin
Congenital CMV Infection
The commonest congenital viral infection (0.5–1 per 1000 live births)
x General clinical features and general workup as before
x Isolate the virus from urine
x Periventricular calcifications
Treatment
x Hyperimmune anti-CMV
immunoglobulin.
x Symptomatic treatment
x Ganciclovir
x Avoided by blood products screening
Congenital HSV Infection

x Skin and mouth vesicles and ulcers

x Kerato conjunctivitis
x Encephalitis
x Disseminated form: (multi organ) Ÿ septic shock like
Diagnosis
x Isolate CMV from the vesicles or conjunctiva smears
x Skull X-ray, CT: May show diffuse calcifications
x Avoided by cesarean section for mothers with genital lesions and Acyclovir
Treatment: Symptomatic treatment + Acyclovir or Vidarabine

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Page | 182 Illustrated Baby Nelson

Other Congenital Infections

Parvo B19
Parvo virus B19 is a small, non-enveloped, single-stranded DNA virus that causes
erythema infectiosum (fifth disease) in children,
Clinical picture
Usually the fetus is unaffected
ƒ May cause severe fetal anemia causing fetal hydrops (edema and ascites);
implicated in approximately 10% of cases of fetal nonimmune hydrops
ƒ Pathogenic sequence is as follows: maternal primary infection ĺtrans
placental WUDQVIHURI%YLUXVĺLQIHFWLRQRIUHGEORRGFHOOSUHFXUVRUVĺ
DUUHVWHGUHGEORRGFHOOSURGXFWLRQĺVHYHUHDQHPLD+E JG/ĺ
FRQJHVWLYHKHDUWIDLOXUHĺHGHPD
ƒ Anemia in the fetus is monitored by middle cerebral artery velocity
waveform on Doppler ultrasound and treating with intrauterine transfusion,
if necessary
ƒ May cause fetal myocarditis/hepatitis
ƒ If the baby survives; no long term residuals

Varicella zoster virus infection

ƒ Congenital varicella syndrome:
- Rare; 1-2% after maternal infection acquired in the first 20 weeks of
gestation
- May be limp hypoplasia, skin scars, microcephaly, cataract
ƒ Perinatal infection within 5 days before to 2 days after delivery can cause
fatal varicella in the infant. Treatment for perinatal infection:
- Zoster immunoglobulin or IVIG
- If clinical varicella developed, treat with IV acyclovir

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 183 Illustrated Baby Nelson

Self-assessment case scenarios

Case 6
This is a 3.2 kg term newborn female delivered via normal
spontaneous vaginal delivery. Rupture of membranes
occurred 21 hours prior to delivery with clear fluid. There
was a maternal fever 38.1C. Apgar scores were 8 and 9.
The infant appears slightly pale and mottled, with
persistent grunting, shallow respirations, and lethargy
Her fontanels and Heart exam were normal.
Chest x ray is shown
a. What is the likely diagnosis?
b. Comment on the X ary ?
c. What are further investigations required ?

Case 7
A 28 weeks gestation infant has been born and has needed
relatively little ventilator support. Feeds are introduced on
day 3 and increased slowly. on day 5 he deteriorates and
there was obvious abdominal distension. An abdominal
X ray is obtained
a. What does the x ray show?
b. What do you think has happened?
c. What will you do next?

Case 8
A baby boy delivered at 38 weeks' gestation with a birth weight of 2 kg and a head
circumference of 31 cm . At day 3 postnatal , he had neonatal thrombocytopenia requiring
platelet transfusion. Later, brainstem evoked responses indicated
severe bilateral sensorineural deafness. His mother had a contact
at 9 weeks' gestation with a family member with rash, and she
developed same illness 1 week later.
a. What is the diagnosis?
b. What is the skin lesion seen?

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Page | 184 Illustrated Baby Nelson

Neonatal Jaundice
x Jaundice: is yellowish discoloration of skin and mucus membranes due to increased
serum bilirubin above normal levels
x Normal cord bilirubin is less than 3 mg/dl.
x Jaundice is obvious clinically in neonate when serum bilirubin exceeds 5 mg/dl
Bilirubin Metabolism
1. Production: Bilirubin is produced mainly from old RBCs
o Old RBCs give rise to globin and haem
o Globin enter the amino acid pool of the body
o Haem spilt into iron and biliverdin which change into unconjugated bilirubin
o Unconjugated (indirect) bilirubin has 3 criteria:
- Fat solubleo can cross Blood Brain Barrier (BBB)
- Water insoluble o can not be excreted in urine
- Detected by indirect Van Den Berg reaction Bilirubin
2. Transport
Indirect bilirubin is carried on albumin Albumen
( unconjugated or hemebilirubin)
3. Uptake by hepatocytes
Bilirubin bind to cytoplasmic ligandins Z,Y
; Z & Y proteins to deliver it to endoplasmic
Bilirubin
reticulum where conjugation occur.
Entero hepatic circulation

4. Conjugation
Glucoronyl
. Transferase Enzyme
Conjugation of bilirubin stimulated by
glucoronyl transferase enzyme give rise to
conjugated or cholebilirubin which is Cholebilirubin
water soluble (excrectable in urine) and lipid
insoluble (cannot cross BBB)
5. Secretion
Active secretion of conjugated bilirubin by E Glucoronidase
liver cells into bile canaliculi.
6. Excretion
Excretion of conjugated bilirubin & Stercobilinogen
bile salts into the intestine.
7. Bilirubin in intestine
o Some amount is deconjugated by mucosal
Urobilinogen
enzyme; E glucoronidase o
unconjugated bilirubin o reabsorbed
to the liver (entero- hepatic circulation)
o Some amount is changed to
stercobilinogen o stool Urine Stool
o Small amount of stercobilinogen reach
the systemic blood (urobilinogen) o urine.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Page | 185 Illustrated Baby Nelson

Unconjugated Hyperbilirubinemia
High Total Serum Bilirubin (TSB) & conjugated bilirubin < 15 % of TSB
Causes
1. Bilirubin over production
I. Increased rate of hemolysis (Reticulocyte count elevated).
a- Direct Coomb’s test positive
- Rh. incompatibility.
- ABO blood group incompatibility
b- Direct Coomb’s test negative
- Spherocytosis
- D Thalassemia
- Glucose-6-phosphate dehydrogenase deficiency.
II. Non hemolytic causes (normal reticulocyte count.)
x Extra vascular hemorrhage : Cephalhematoma & Internal hemorrhage
x Elevated RBCs load (Polycythemia) o Ĺ RBCs turnover
x Enhanced enterohepatic circulation of bilirubin 2ry to gastro intestinal
stasis e.g. congenital pyloric stenosis and breast feeding jaundice
2. Defective uptake: Due to defective ligandins (Z&Y proteins)
3. Defective conjugation: Glucoronyle transferase enzyme may be:
o Absent o Criggler – Najjar syndrome type I
o Deficient o Criggler – Najjar syndrome type II
o Gilbert syndrome
o Immature o Physiologic jaundice
o Under stimulated o Hypothyroidism, hypoglycemia, hypoxia
o Inhibited o Breast milk jaundice, Lucy- Driscoll syndrome
Clinical features
x Skin and sclera: bright yellow / orange
x Color of urine: usually normal.
x Color of stool : may be dark
x Possible Concurrent problems:
(Absent in physiologic jaundice)
* Risk of kernicterus if indirect
bilirubin exceeds the binding sites on
albumin or with leaky blood brain
barrier
* Risk of anemia: if hemolysis exists

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Page | 186 Illustrated Baby Nelson

x Timing of Clinical jaundice:

* In the 1st day of life - Hemolytic disease of newborn (Rh or ABO
incompatibility (until prove otherwise).
nd rd
* In the 2 - 3 day - Physiologic jaundice
of life - Criggler Najjar syndrome
- Hemolytic anemia
th th
* By the 4 –7 days - Physiologic jaundice in premature
- Hemolytic anemia
st
* After the 1 week - Breast milk jaundice
- Hemolytic anemia
rd
* Persistent > 3 week - Criggler-Najjar syndrome
- Physiologic jaundice in hypothyroid infant
Physiologic Jaundice
Incidence - Affects 40-50% of full term and 60% of preterm
Etiology o Transient glucuronyl transferase enzyme immaturity .
o Metabolism of extra hemoglobin formed intrauterine
o Shorter life span of neonatal RBC’s
o Reduced Z & Y proteins (Ligandins) during the 1st week
Characters
ƒ Unconjugated hyperbilirubinemia (Direct bilirubin <1mg/dl)

Peak at 4th day Peak at 6th -8th day

Peak level 12 mg/dl Peak level 15 mg/dl

Increases by
< 5 mg/dl/day PRETERM

FULL TERM

Onset Onset Disappear by Disappear by

2nd-3rd day 3rd -4th day End of 1st week End of 2nd week
ƒ No pallor, organomegaly nor risk of kernicterus
ƒ Diagnosed by exclusion (Well baby, No hemolysis, nor anemia)

Treatment - Usually need no treatment; especially in full term

- Phototherapy or even exchange may be needed for VLBW
Differential diagnosis: From pathological jaundice

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Page | 187 Illustrated Baby Nelson

Criteria of pathological jaundice

Jaundice is considered pathologic if the time of appearance, duration, or pattern varies
significantly from physiologic jaundice or if the course is compatible with physiologic
jaundice but the infant has other risk factors predisposing him to neurotoxicity :
o Peak
o Rate of rise
> 13 mg/dl in full term
> 5 mg/dl/day or
> 15 mg/dl in preterm o Persistent
> 0.5 mg /dl /hour
> 1 week in full term
Pathologic > 2 weeks in preterm

Physiologic physiologic

o Onset: At any time even the 1st day (first day jaundice is always pathologic)

o Associated problems (e.g. anemia, organomegaly, signs of sepsis, kernicterus).

o Non response to phototherapy
o Direct hyperbilirubinemia is always pathologic.

Breast Milk Jaundice

Incidence - Affects 2-4 % of adequately breast fed, healthy full term.
- Recurrence rate 70% in subsequent pregnancies

Clinical picture Peaking at 10-15 days of age

With a maximal level of 10-30 mg/dl
Instead of the usual fall of
serum bilirubin by the end of Decline slowly over weeks
first week it continues to rise

If breast feeding is interrupted for 24-48 hours, bilirubin level drops quickly

Etiology Unknown ; Breast milk may contain:

- Pregnandiole ĺ inhibit glucoronyle transferase enzyme.
- E glucoronidase ĺenhance entero hepatic circulation of bilirubin
Diagnosis - By Exclusion (Normal liver functions &CBC) + Therapeutic trial

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 188 Illustrated Baby Nelson

Gilbert Disease
Etiology - Autosomal dominant disorder.
- Decreased hepatic glucoronyle transferase level.(was thought
to be due to deficiency of Z& Y proteins )
Clinical picture - Mild hyperbilirubinemia ,usually need no treatment

Criggler-Najjar Syndrome Type I

Etiology - Autosomal recessive disorder.

- Absent glucoronyle-transferase enzyme
Clinical picture - Severe disease; very high level of indirect bilirubin
- Unresponsive to phenobarbitone
Diagnosis - Clinical picture
- Enzyme assay in liver biopsy

Criggler-Najjar Syndrome Type II

Etiology - Autosomal dominant disorder.

- Partial deficiency of glucoronyl-transferase enzyme
Clinical picture - Less severe than type I
- Responsive to phenobarbitone trial

Investigations of indirect hyperbilirubinemia

1- Total Serum Bilirubin (TSB) & direct fraction (direct fraction < 15 % of total)
2- Direct Coomb’s test: - If positive o check blood group of infant & mother.
3- Hb/Htc value: - If high (Htc > 65%) o polycythemia.
- If normal or low (Hb <13gm/dl) o check Retics count
4- Reticulocyte count: - Normal o extravascular hemorrhage.
- High (> 6%) o Check blood smear & osmotic fragility
o G6PD enzyme assay.
5- Others - Check albumin if TSB is approaching the exchange level
- Serum T4 & TSH to rule out hypothyroidism if jaundice is prolonged
- Phenobarbitone trial for Criggler-Najjar type II.
6- For a risk factor: - Sepsis screen If history and/or presentation suggest sepsis
- Cranial ultrasound /CT for cephalhematoma
Hb = hemoglobin ,Htc = hematocrit value, retics = reticulucytic count

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Page | 189 Illustrated Baby Nelson

Treatment of indirect hyperbilirubinemia

Goals of therapy:
o Prevent neurotoxicity related to indirect-reacting bilirubin regardless of the cause
o Keep the maximal total serum bilirubin below pathologic levels by phototherapy
and, if it is unsuccessful, by exchange transfusion
1. Phototherapy
Idea
Exposure to blue-green spectrum (wavelengths 430-490 nm) o photo oxidises
and isomerizes bilirubin o convert insoluble unconguated bilirubin to non toxic,
soluble forms oĹ excretion via urine and bile
Indications
1. Treat moderately severe indirect hyperbilirubinemia in order to reduce need
for exchange transfusion (In healthy full term at TSB 15-25 mg/dl and at
lower levels in pretem and neonate with risk factors for kernicterus)
2. During waiting for exchange transfusion.
There is no consensus regarding exact bilirubin level at which to initiate
phototherapy, so, Protocols using bilirubin nomogram , physical examination,
and risk factors for kernicterus help decide the appropriate modality

Procedure
x Baby is completely naked except eyes and genitalia
x Change position every now and then
x Continuous exposure with short intervals for feeding
x Monitor temperature and hydration state frequently
x Monitor TSB every 4-24 hours according to infant’s
age ,condition and TSB level
x Discontinue when TSB fall 1.5-3 mg/dL below the
level triggered the initiation of phototherapy

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 190 Illustrated Baby Nelson

o Fiber optic blankets (Bili blankets) are recently used for home or hospital
phototherapy in prolonged cases
o Follow up TSB 6-12 hr after cessation of
phototherapy
Side effects
1. Loose stool
2. Skin rash and erythema of skin
3. Hyperthermia
4. Dehydration due to insensible water loss
5. Damage to exposed eye or genitalia
6. If used in direct hyperbilirubinemia o Bronzed baby syndrome
2. Exchange transfusion
Indications
1- In Rh and ABO incompatibility
- Cord bilirubin > 5 mg/dl(normally <3 mg/dl)
- Cord hemoglobin < 10 gm/dl
- Rapid rise of bilirubin (> 1 mg/dl/hour) despite phototherapy
- Early signs of kernicterus
- Previous baby with kernicterus or severe erythroblastosis fetalis
2- In other causes: with high bilirubin level & phototherapy ineffective
- Healthy full term TSBo • 25 mg/dL
- Pretem and neonate with risk factors for kernicterus o at lower levels
(reference tables & bilirubin nomograms also exist)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 191 Illustrated Baby Nelson

Idea
- Remove excess unconjugated lipid soluble bilirubin.
- Remove antibodies from the circulation
Procedure
o Extensive phototherapy while preparing
for the exchange
o Blood used is:
- Fresh, warm O negative blood
- Compatible with both maternal and
neonatal blood
o Amount = double the neonate blood volume (2u85 ml/kg).
o Small amounts (10-20 ml) are removed and replaced by equal amounts of
the new blood through umbilical vein catheter
o Potential complications include apnea and bradycardia in preterm infants,
hypocalcemia, thrombocytopenia, metabolic acidosis, and vascular spasm
3. Special Cases
a. Treat risk factors for kernicterus e.g.
- Antibiotics for septicemia
- Correction of acidosis
- Avoid drugs which displace bilirubin from albumin
b. Breast milk jaundice
- Stop breast feeding for 24 - 48 hours o Bilirubin fall quickly
c. Isoimmune hemolytic disease
- Intravenous Immunoglobulin 0.5-1.0 g/kg/dose; repeat in 12 hr
- Reduce need for exchange transfusion in both ABO and Rh hemolytic
disease
d. Criggler Najjar Syndrome type II
- Phenobarbitone 5 mg/kg/d oral.
- Role: Stimulates glucoronyl transferase enzyme(enzyme inducer).
- Side effect: sedation o poor feeding
e. Criggler Najjar Syndrome type I
1- Repeated exchange transfusion & phototherapy
2- Oral agar o block enterohepatic circulation of bilirubin.
3- Metalloporphyrin o block heme oxygenase.
4- Hepatic transplantation

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Page | 192 Illustrated Baby Nelson

Kernicterus
( Bilirubin Encephalopathy)
Definition
Yellowish staining of the cerebellar & cerebral nuclei (especially basal ganglia)
due to deposition of unconjugated bilirubin resulting in neuronal necrosis.
Etiology
A. Level of serum unconjugated bilirubin exceeding critical values
- > 10 mg/dl in the 1st day
- > 15 mg/dl in the 2nd day
- > 25 mg/dl afterwards
However kernicterus may occur at a lower levels in presence of risk factors:
a. Increased blood brain barrier permeability
- Prematurity & very low birth weight
- Acidosis
- Sepsis
- Asphyxia
- Anemia ,VRLPPXQHKHPRO\VLV*3'Ļ
b. Defective albumin/ bilirubin binding
- Hypoalbuminemia < 3 gm /dl
- Hypothermia
B. Duration of exposure to the high bilirubin level:
The longer the duration the more risk of kernicterus.
Clinical picture
Usually appear 2-5 days after birth in term infants and by the 7th day in preterm
A. Acute bilirubin encephalopathy
Early signs
o Lethargy, poor feeding and Lost Moro reflex are common initial signs
o High pitched cry and hypotonia with diminished tendon reflexes
o Respiratory distress
o Seizures
Few days later
o Hypertonia of extensor muscles
o Opisthotonos with a bulging fontanel
o Fever
Many infants usually die during these phase
Survivors from previous phase go onto lucid interval for few months o
there’s apparent recovery or few symptoms.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Page | 193 Illustrated Baby Nelson

B. Chronic bilirubin encephalopathy

- Picture of Cerebral Palsy become apparent by the 1st -3rd year of life
- Type : chorio asthetoid or spastic cerebral palsy
- Clinical features:
Mental retardation

Squint Seizures

Sensorineural deafness
Developmental
delay
Speech impairment
Chorio asthetoid
movements

o MRI of a patient with chronic bilirubin

encephalopathy (kernicterus) is shown,
revealing the classic symmetric high-intensity
signal in the globus pallidus (arrows).

Management
a- Prevention
* Adequate treatment of indirect hyperbilirubinemia (see before)
* Prevention and treatment of risk factors: e.g. sepsis, acidosis, asphyxia, …
b- Treatment
Acute
o Immediate Exchange Transfusion is mandatory once kernicterus is
suspected
o Extensive phototherapy while waiting for exchange and after exchange
o Close monitoring of TSB and serum albumin to tailor further management
plan
o Investigate for and treat risk factors e.g. sepsis ,anemia, cephalhematoma
Chronic
Not curable, need only supportive treatment for cerebral palsy.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 194 Illustrated Baby Nelson

Conjugated Hyperbilirubinemia

Definition: Rise of total serum bilirubin with the conjugated fraction > 15% of
total Or > 2 mg/dl
Cholestasis: Means retention of conjugated bilirubin as well as other constituents
of bile (e.g. bile salts)
Causes
1.Defective secretion of conjugated bilirubin by hepatocytes
a .Genetic - Rotor and Dubin Johnson syndrome
b. Acquired: (Neonatal hepatitis) due to:
* Infections : - Congenital infections e.g. TORCH
- Neonatal sepsis.
- Viral hepatitis : Echo, Herpes, EBV,
Rarely HBV, HCV.
- Idiopathic neonatal hepatitis
* Metabolic : - D1 antitrypsin deficiency (13 %)
- Galactosemia
- Tyrosinemia
2. Defective excretion due to bile flow obstruction
• Intrahepatic:
- Congenital intrahepatic biliary atresia.
- Intrahepatic biliary paucity (hypoplasia) e.g. Allagile syndrome
• Extrahepatic:
- Congenital extrahepatic biliary atresia.
- Inspissated bile syndrome (Bile plug)
Clinical features
1. Color of sclera o Greenish or muddy yellow
2. Color of urine o Dark (bilirubinuria).
3. Color of stool o Pale (or clay).
4. Possible concurrent associations:
- Hepatosplenomegaly.
- Liver cells dysfunction.
- Malabsorption and failure to thrive
- Underlying systemic disease e.g. inborn error of metabolism, sepsis,
TORCH.
- No risk of kernicterus.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Page | 195 Illustrated Baby Nelson

5. Timing
* In 1st day of life - TORCH infection
* In the rest of 1st week of life - Neonatal sepsis
- TORCH infection
* Persistent during 1st month - Neonatal hepatitis (metabolic or infections )
- Congenital biliary atresia.
- Inspissated bile syndrome
Investigations
- Liver function tests.
- Liver scan (HIDA scan).
- Liver biopsy.
- Metabolic screen for inborn errors of metabolism.
- TORCH screen.
- Sepsis screen
Treatment
i. Curable causes
- Sepsis o antibiotics.
- Galactosaemia o lactose free milk.
- Extra hepatic biliary atresia o Kasai operation ( hepato-porto- enterostomy)
ii. Supportive
- Formulas with medium chain triglycerides
- Fat soluble vitamins
- Water soluble vitamins
- Bile acid binders (Cholestyramine) oral opserum chlosterol & bile acids.
- Minerals (e.g. calcium, phosphate).
- Liver transplantation for end stage liver failure.

Inspissated Bile Syndrome

- Persistent jaundice in newborns with elevations of both direct and
indirect bilirubin after a period of increased indirect bilirubin
- It may be associated with massive hemolysis (Rh incompatibility), or
hemorrhage (intraabdominal, intracranial, or retroperitoneal)
- Steroids & phenobarbitone may be tried in treatment

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Page | 196 Illustrated Baby Nelson

Haemolytic Disease of the Newborn (HDN)

(Erythroblastosis Foetalis)

Etiology
Hemolysis of neonatal RBC’s due to transplacental passage of maternal
antibodies active against fetal RBCs. It includes:
1. Rh incompatibility; the mother is Rh negative and the baby is Rh positive
2. ABO incompatibility; the mother is usually group O and the fetus group A or B

Rh Incompatibility
Pathophysiology

o Escape of small amount of Rh +ve fetal blood (inherited from Rh +ve father) to
the circulation of Rh –ve mother o maternal sensitization o formation of
maternal anti-Rh antibodies (IgG) which crosses the placenta o Destruction of
fetal RBCs
o The first baby usually escape hemolysis as sensitization usually occur near time
of delivery, but the 1st baby may be affected if the mother was already
sensitized e.g. with previous: - Amniocentesis
- Blood transfusion
- Chorionic villus sampling
- Dead fetus (Miscarriage)
- Ectopic pregnancy
Clinical features: According to severity; different presentations may occur:
1. Severe hemolysis (Hydrops fetalis)
o Due to severe intrauterine hemolysis o severe anemia
o Compensatory extramedullary hematopiosiso huge hepatosplenomegaly.
o Failure of compensation o anemic heart failure with:
ƒ Severe pallor.
ƒ Severe respiratory distress.
ƒ Massive generalized edema (skin, ascites
, pleural effusion, pericardial effusion,
polyhydramnios and placental edema)
ƒ Stillbirth or death short after birth

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Page | 197 Illustrated Baby Nelson

2. Moderate hemolytic; present by:-

- Anemia at birth worsening rapidly over the 1st day with hepatosplenomegaly
- Marked indirect hyperBilirubinaemia develops within few hours and
progresses rapidly.
- Cases untreated usually die due to either kernicterus or anemic heart failure.
3. Mild hemolysis
- Mild hemolysis o mild anemia peaking at end of 3rd week.
- Unconjugated hyperbilinibinaemia at range of 16-20 mg/dl.
- May be splenomegaly.
Management
I. Postnatal management
Diagnosis : Immediately ,after the birth of any infant to an Rh-negative
woman, Do:
- Blood group ABO and Rh
- Hemoglobin
- Baseline serum indirect bilirubin
- Direct Coombs test
- Monitor hemoglobin and indirect bilirubin every 6-8 hours
Management
1. For hydrops fetalis:
- Expert resuscitation
- Assisted /Mechanical ventilation
- Exchange transfusion with packed RBCs.
- Assist heart: Inotropes
- Correct hypoglycemia and hypocalcemia
- Correct acidosis
2. For indirect hyperbilirubinemia
A. Phototherapy in milder cases
B. Exchange transfusion
* Indications (see before)
* The blood used should be: Fresh and ABO-compatible with the
mother and infant
3. Intravenous gamma globulin (inhibit hemolysis)
- Dose: 0.5gm/kg/dose; repeat in 12 hr
- Reduce the rate of hemolysis and the need for exchange transfusion in
both ABO and Rh hemolytic disease

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Page | 198 Illustrated Baby Nelson

II. Antenatal management (Prevention)

A. First pregnancy
* IM Anti-D (RhoGam ) is given provided:
- The mother is Rh D negative
- The fetus is Rh D positive
- There is no maternal anti-D detectable in the mother’s serum
* Regime:
- One dose at 28 - 32 weeks’ gestation
- Another dose is given within 72 hours of delivery.
* Other situations e.g. ectopic pregnancy, threatened miscarriage
- One or more Anti-D doses
B. Subsequent pregnancies OR previous sensitization suspected
o Check anti-Rh.(anti D) titer in maternal blood by indirect Coomb’s test
Starting at 12-16 weeks gestation

o If High OR rising titer o Check for fetal hemolytic disease by:

A. Doppler flow velocity of the fetal middle
cerebral artery (in moderate to severe anemia it
demonstrates an increase in the peak velocity of
systolic blood flow)
And
B. Ultrasonography for fetal well being and signs of
hydrops

o If the infant appears to have severe anemia or

Fetal hydrops before 35 weeks gestation

Percutaneous Umbilical Blood Sampling (PUBS) is indicated to confirm

hemolysis directly and if necessary, an intravascular fetal O negative
Packed RBCs transfusion is given

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 199 Illustrated Baby Nelson

ABO Incompatibility

Path physiology
- Occur when the mother blood group is O and the baby blood group is A or B.
- Maternal blood contain naturally present Anti-A and anti-B antibodies
- Maternal Anti-A and anti-B antibodies are usually of IgM type that is unable
to cross the placental barrier, but in 10 % of cases these antibodies are of
IgG type that can escape placental barier and affect the baby
Clinical criteria
- As antibodies are naturally present; the 1st baby may be affected
- Milder course
- Direct Coomb’s test is weak positive
- Mild spherocytosis
- If ABO and Rh incompatibility coexist: Maternal preexisting anti-A or anti-B
antibodies rapidly remove fetal Rh-positive cells from her circulation o
mother is partially protected against sensitization
Treatment
o Phototherapy
o IVIG
o Exchange transfusions with type O blood of the same Rh type as the infant
o Some infants with ABO hemolytic disease may require transfusion of packed
RBCs at several weeks of age because of slowly progressive anemia.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 200 Illustrated Baby Nelson

Self-assessment Quiz
Case 9
A 5-day-old, large-for-gestational-age, 4500-g boy has a bilirubin level of 15 mg/dL. There
is no anemia or polycythemia. Examination apart from a moderate cephalohematoma is
normal
a. What is the diagnosis?
b. What is the required treatment?

Case 10
Female newborn, second kid, aged 4 days, weight 3.900 kg, presented with neonatal
jaundice noticed on the 3rd day of life. Examination reveal entirely normal adequately
breast fed newborn, slight pallor, but no organomegaly
Investigations :
Indirect bilirubin level 19 mg/dl
Baby blood group A , Rh negative
Mother blood group O , Rh positive.
Baby hemoglobin 11 gm/dl
a. Suggest a diagnosis
b. What are further investigations required?

Case 11
A 6 days old, 36 week gestation male presents to his physician with worsening jaundice. He
was discharged home on day 2 of life after successfully breastfeeding for a 24 hour period.
At the time of discharge, his physical exam was unremarkable
Findings :
He is markedly jaundiced but otherwise normal
Fair urine output and yellow stools
Maternal and infant blood type is A +
The total bilirubin is 27 mg% with a direct fraction of 1 mg%
The hematocrit is 47% with a reticulocyte count of 1%
a. What is the diagnosis?
b. Treatment?

Case 12
This is a term female born by forceps assisted vaginal delivery to a primiparous woman ,
now she is 96 hours old ; she is not interested in feeding as before , sleepy all the time and
has frequent eye staring and mouth twitches described as subtle seizures. Investigations
Indirect bilirubin level 26.5 mg/dl
Baby blood group A , Rh negative
Mother blood group O , Rh positive.
Baby hemoglobin 11 gm/dl
Reticulocyte count 5%
a. What is the diagnosis?
b. What are the required investigations?
c. Management?

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
 Page | 201 Illustrated Baby Nelson

Hemorrhagic disease of the newborn

Definition
Hemorrhagic disorder in early neonatal period due to deficiency of vitamin K
dependant clotting factors (II, VII, IX, X).
Incidence
- Affect about 2% of neonates not given vitamin K at birth
- Preterm and Breast milk feeders are more at risk than formula feeder full term.
Etiology
Depletion of transplacental Delay of endogenous vitamin K synthesis to the 7th
vitamin K by the 2nd day of day; (due to lack of intestinal bacteria flora especially
life in cases receiving TPN or prolonged broad spectrum
antibiotics).

Maternal medication
during pregnancy
may deplete neonatal
vitamin K store e.g.
phenytoin, Liver immaturity
phenobarbitone in preterm

Clinical picture
1. Bleeding tendency:
* Timing? - Usually between the 2nd - 7th day of life (may be early or late).
* Sites ? - Commonly gastrointestinal, umbilical, or circumcision site
- Rarely internal hemorrhage
* Look ? - The baby looks well except if there is severe hemorrhage or intra
cranial hemorrhage.
2. May be hemorrhagic anemia (pallor, tachycardia up to shock).
Investigations
o Prolonged prothrombin time (P.T.) and partial thromboplastin time (P.T.T)
o Deficiency of vitamin K dependant factors
o Normal bleeding time and platelet count
Prevention
o Vitamin K1 1 mg , intra muscular at birth
o Oral vitamin K is less effective
Treatment
o Vitamin K1 1-5 mg intravenous daily for 3 days
o Fresh plasma transfusion for preterm , liver diseases and active bleeding
o Fresh blood transfusion in severe bleeding.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 202 Illustrated Baby Nelson

Neonatal Anemia
Definition
A hemoglobin value less than the normal range of hemoglobin for birthweight
and postnatal age
A. Physiologic anemia of infancy
At term
o Hemoglobin is 14-20 gm/dl (1-2 gm/dl lower in VLBW) and Htc. value
55% Due to relative intrauterine hypoxiao Ĺ erythropoietin o++ Bone
marrow ohigher hemoglobin at term
o As oxygen saturation improves after birth o Ļerythropiotine productiono
Hemoglobin continue to decline to reach a nadir of 11 gm/dl at about 8-12
weeks of age (7-10 gm/dl in preterm)o re stimulation of erythropiotine
release .
Clinically
* Usually there is no clinically detectable pallor
* Anemia is self resolving, so usually requires no treatment
Prevention
Delayed FODPSLQJRIWKHXPELOLFDOFRUG§-2 min) with the infant held below
the level of the placenta may enhance placental-infant transfusion and reduce
postnatal transfusion needs; it provide extra 20-40 mL of blood and 30-35 mg
of iron
B- Pathologic anemia
Blood loss Hemolysis p RBCs production
With normal reticulocyte count With reticulocytosis With reticulocytopenia
- Twin to twin transfusion 1. Immune hemolysis - Congenital infections
- Feto-maternal transfusion - Rh incompatibility - Congenital leukemia
- Placental malformations - ABO incompatibility - Pure red cell anemia
After delivery 2. Hereditary hemolysis
- Frequent sampling. - Spherocytosis.
- Neonatal hemorrhage whether - G6PD deficiency
internal or external - D-thalassemia
Treatment
o Packed RBC’s transfusion (15-20 ml/kg over 2- 4 hours)
Blood transfusion threshold depends on the severity of symptoms, hemoglobin
level, and presence of co-morbid diseases (e.g. cyanotic congenital heart disease,
respiratory distress syndrome) that interfere with oxygen delivery;
- At Hb% ” 11 for neonate on mechanical ventilation
- At Hb% ” 10 for neonate on minimal respiratory support

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 203 Illustrated Baby Nelson

- At Hb% ” 8 for neonate on supplemental O2 with poor weight gain or apnea

- At Hb% ” 7 for Asymptomatic neonate
o Treatment of the cause e.g. Vitamin K for hemorrhagic disease of newborn

Neonatal bleeding
Causes
a. Bleeding in Otherwise Well Newborns
o Pseudohemorrhage in the Newborn
- Fresh blood coming from the stomach of a newborn may be of fetal
or maternal origin(swallowed maternal blood)
- Apt test of the blood, based on maintenance of pink color of fetal
but not adult hemoglobin diluted in1% sodium hydroxide, can help
determine the origin of blood cells
o Platelet Disorders
ƒ Neonatal Alloimmune Thrombocytopenia (Maternal antibodies directed
against fetal antigens )
ƒ Maternal Immune Thrombocytopenia Purpura
ƒ Congenital thrombocytopathy
ƒ Congenital Thrombocytopenia e.g.
- Thrombocytopenia with absent radius syndrome (TAR)
- Fanconi anemia (FA)
- Wiskott Aldrich syndrome
o Hemophelias
o Vitamin K deficiency
o Local bleeding e.g. with NGT, thermometer
b. Bleeding in sick neonate
o Disseminated intravascular coagulation
o Liver disease
o Necrotizing enterocolitis
o Serious bleeding due to any cause
Workup
o Diagnosis and choice of an investigation depends on the newborn general
condition , clinical pattern of bleeding , maternal and family history
o Basic workup includes:
o Coagulation profile ( PT ,PTT, D-Dimer)
o CBC with blood film for platelet count and morphology
o Specific e.g. specific clotting factor assay

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Perinatal asphyxia
Definition
Acute or chronic impairment of gas exchange with hypoxia, hypercapnia and
acidosis with consequent organ damage. The term Hypoxic Ischemic Injury (HII)
has replaced the term of perinatal asphyxia
Causes
Impairment in oxygenation and perfusion due to
o Impaired placental supply due to placental insufficiency, placental abruption
and uterine contractions
o Impaired umbilical supply due to cord compression/prolapsed or knots
o Impaired materno-placental supply due to maternal hypoxia or hypotension
o Impaired neonatal supply due to difficult delivery or inadequate resuscitation
o Post-natal causes (uncommon):
- Severe congenital cyanotic heart diseases.
- Severe anemia due to severe hemorrhage or severe hemolysis
Clinical picture
Depends on duration & severity of asphyxia
I. In the fetus
Indicators of fetal hypoxia and distress include:
1- Intrauterine growth restriction may indicate chronic hypoxia
2- Umbilical artery Doppler shows absent or even reversed end-diastolic flow
suggesting severe fetal circulatory compromise

Normal end diastolic flow Absent end diastolic flow Reversed end diastolic flow
3- Continuous heart rate recording may reveal a variable or late deceleration
pattern (decrease in fetal heart rate beginning at or after the peak of the
contraction and returning to baseline only after the contraction has ended)

4- Acidotic scalp or cord pH

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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II. After delivery

1- Meconium staining of the newborn,
amniotic fluid and vernix caseosa
2- Decreased consciousness and
failure of spontaneous breathing.
3- Low Apgar score with cyanosis and flaccidity

III. Later Neurologic and Multi Organ Dysfunction

American academy of pediatrics define severe asphyxia as combination of
o Low Apgar score < 4 for at least 5 minutes
o Umbilical artery pH < 7.00 (if obtained)
o Neurological insults e.g. seizures
o Multiorgan insults : Cardiac ,pulmonary ,renal or intestinal
1. Hypoxic-ischemic encephalopathy (HIE)
Asphyxia

Systemic hypoxemia Acidosis and hypercapnia

Systemic vasoconstriction Cerebral vasodilatation

Redistribution of blood flow to brain, heart and adrenals

Increased cerebral blood flow

Impaired cerebral
blood flow
Continuing hypoxemia, acidosis autoregulation
and hypercapnia
Cerebral edema

Cerebral ischemia

Brain cell injury

o Early phase (minutes – 6 hours)
- Anaerobic glycolysis o intracellular energy failureo necrotic cell death
- Increased GABA
- Release of excitatory amino acids particularly glutamate
o Late phase (6-72 hours)
- Release of neurotoxic mediators e.g. free radicals and nitric oxideoapoptotic cell death

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Sarnat and Sarnat clinical grading of HIE

Sign Mild (I) Moderate (II) Severe( III)
o Autonomic Sympathetic Parasympathetic Depressed
o Consciousness - Hyper alert - Lethargy - Comatose
o Muscle tone - Normal - Hypotonic - Flaccid
o Suckling reflex - Weak - Weak - Absent
o Moro reflex - Exaggerated - Weak - Absent
o Pupils - Dilated - Miotic - Often unequal
o HR - Tachycardia - Bradycardia - Variable
o Seizures - None - Common - Decerbrate
o EEG - Normal - Abnormal - Abnormal (isopotential)
o Duration 1-3 days 2-14 days - Hours to weeks
o Out come Good Variable - Death or severe deficits
2. Cardiac ĺ Heart failure, cardiogenic shock
3. Respiratory ĺ Meconium aspiration ,apnea, pulmonary hypertension
4. Renal ĺ Oliguria, hematuria, Acute tubular necrosis
5. GIT ĺNecrotizing enterocolitis
6. Hematologic ĺ',&
6. Metabolic ĺHypoglycemia , hypocalcemia ,hypomagnesemia,
hyponatremia and syndrome of inappropriate secretion of
ADH
Diagnosis :
There are no specific tests to neither confirm nor exclude a diagnosis of HII
Diagnosis is made based on the history, physical and neurological examinations
1. Neuro imaging
o Brain MRI
- Modality of choice for the diagnosis and follow-up of HIE
- Early detection of brain edema and brain injury (basal ganglia)
- Conventional MRI show changes by the 3rd day
- Diffusion Weighted MRI shows changes in the 1st 24 hours (preferred)
o Cranial ultrasonography
- Less sensitive than MRI (initial scan is negative in up to 50% of cases)
- Perform on day 1 then as guided by clinical condition
2. EEG
- Both standard EEG and amplitude integrated (aEEG) are used
- Detects seizures and evaluate the degree of encephalopathy

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Management
A. In delivery room
1- Avoid and treat risk factors
2- If fetal distress: provide high flow oxygen & prepare for immediate delivery
3- Neonatal resuscitation according to neonatal life support guidelines
4- Assess severity of encephalopathy
B. In NICU
1. Therapeutic Hypothermia
Idea: Moderate hypothermia in perinatal asphyxia is neuroprotective
Neuroprotection via:
o Reduced metabolic rate and energy depletion
o Decreased excitatory transmitter release
o Reduced apoptosis
o Reduced vascular permeability, and edema.
Eligibility
o •ZHHNVJHVWDWLRQ
o < 6 hours old
o Evidence of moderate to severe encephalopathy (Sarnat)
o Evidence of perinatal asphyxia; one of the following
- $SJDU”DWPLQXWHV
- Continuing resuscitation at 10 minutes
- pH < 7.00 in the first hour
- Base Excess ”- 16 in the first hour

Method
o Resuscitation as usual
o Start selective head cooling
(using CoolCap) or total body
cooling (systemic).
o Rectal temperature is then
maintained at 34-35°C for 72 hours.
o Rewarming is carried out gradually, over 6-8 hours.
2. Supportive care
Ventilation
o Consider ventilatory support early
o Ensure adequate oxygenation; avoid hyperoxia
o PaCO2 between 35 - 45 mmHg is neuroprotective
o Treat pulmonary hypertension if exist

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Cardiovascular
o Consider invasive blood pressure monitoring
o Maintain mean arterial blood pressure above 35-40 mm Hg in term to
ensure adequate cerebral perfusion
o Consider inotropic support early ; start with dobutamine infusion and
add dopamine if required
o Fluid boluses if hypovolemic
o Monitor Hb% ; acute fall may indicate new intracranial hemorrhage
o ECG and Echo if there is concern over poor cardiac function
Fluids
o Fluid balance based on weight, urine output, serum sodium & renal
function
o Initially fluid restrict to 60-80 % maintenance and liberalize as urine
output improve
Neurology
o Treat seizures even asymptomatic (i.e., seen only on EEG)
o Phenobarbitone is the drug of choice
Metabolic
o Maintain normoglycemia
o Treat hypocalcemia
Coagulation
o Send coagulation screen; PT, PTT, D-dimer and platelets
o Correct any coagulopathy with Vit K ,FFP, cryopreciptate or platelets
Feeding
o Withhold enteral feeds for the first 3 days
o Introduce feeds cautiously when clinical condition has improved
o Increase feed volumes slowly
o Monitor for necrotizing enterocolitis

Withdrawal of care
o May be appropriate for severe HIE who have iso electric/burst suppression
in EEG and abnormal cerebral blood flow on Doppler
o Active treatment should be continued at least for the first 24 hours

Prognosis
About 20-30% of infants with HIE die in the neonatal period
§-50% of survivors are left with permanent neurodevelopmental
abnormalities (cerebral palsy, mental retardation).

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Neonatal Seizures

Definition
Paroxysmal alterations of neurologic functions including motor, behavioral and /
or autonomic changes
Causes
A. Central nervous system
o Incidence: the commonest causes, includes:
- Hypoxic-ischemic encephalopathy (the commonest cause in term babies).
- Intra cranial hemorrhage ( intraventricular, parenchymal, subarachnoid or
subdural)
- Sepsis ( meningitis, encephalitis, tetanus, TORCH)
- Congenital brain malformations e.g. cerebral dysgenesis (5%).
- Bilirubin encephalopathy (Kernicterus)
- Neuro-cutaneous syndromes e.g. tuberous sclerosis, incontinentia pigmenti
B. Metabolic
1. Hypoglycemia
o %ORRGJOXFRVHOHVVWKDQPPROO§PJGO
o Causes: infant of diabetic mother (IDM), preterm, asphyxia ,
hypopituitarism, Erythroblastosis fetalis, galactosemia
2. Hypocalcaemia
o Serum calcium less than 7mg/dl which either:
- Early onset (in 1st 3 days) o due to IDM, preterm, & asphyxia.
- Late onset (after end of 1st week) o due to decrease calcium intake,
hyper phosphatemia, and hypoparathyroidism.
3. Hypomagnesemia (< 1.5 mg/dl) o often associated with hypocalcaemia
4. Hyponatraemia (< 135 meq/L) or hypernatraemia (> 150 meq/L)
5. Inborn errors of metabolism: e.g.
- Galactosemia
- Hyperammonemia
- Organic acidemia
C. Other causes
- Pyridoxine or pyridoxal (vitamin B6) dependency (essential for GABA)
- Drug withdrawal e.g. maternal narcotics or addiction
- Theophylline toxicity
- Benign neonatal seizures (normal neonate ;diagnosed by exclusion)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Clinical picture
Subtle seizures
The commonest type (50 %) occurs more commonly in premature than full term:
o Eye movements: eye rolling, eye deviation, staring, blinking or nystagmus
o Repetitive oral movements: suckling, chewing or lip smacking.
o Limb movements: pedaling, bicycling or boxing
o Autonomic: apnea, fluctuations in heart rate, hypertension episodes &
desaturations
Clonic seizures
o Limb jerking
o Multifocal (rarely generalized due to decreased connectivity associated with
incomplete myelination in neonates)
Myoclonic seizures
o Brief sudden, shock like jerking movements of limbs
Tonic seizures
o Focal: persistent posturing of a limb or trunk or neck often with persistent
horizontal eye deviation.
o Generalized: bilateral tonic limb extension or tonic flexion of upper
extremities often associated with tonic extension of lower extremities
Spasms
o Very brief sudden generalized jerks lasting 1-2 sec
o Distinguished from generalized tonic spells by their shorter duration
Approach to diagnosis
a. History
o Onset of convulsions
* In the 1st 4 days of life: e.g. HIE, drug withdrawal, or metabolic causes.
* After the 4th day: e.g. intra cranial hemorrhage and metabolic causes.
* After the 1st week: e.g. sepsis (meningitis).
o Course and duration of convulsions
o Perinatal insults:
- Maternal diseases, medications or addiction
- Birth trauma
- Evidence of asphyxia
o Family history for benign neonatal seizures or inborn errors of metabolism
b. General examination
- Search for cranial birth trauma or congenital head anomalies
- Signs suggestive of sepsis or congenital infections

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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- Severe hyperbilirubinemia plus risk factorso kernicterus

- Abnormal Smell o metabolic causes
- Skin examination e.g. for hypomelanotic patches of tuberous sclerosis
- Retinal examination for chorioretinitis in TORCH
c. Neurologic examination
- Pattern of convulsions
- Signs of raised intra cranial tension e.g. tense fontanel
Investigations
o Check initially for blood glucose, calcium, magnesium, sodium, blood gases
o Sepsis Screen: complete blood picture, CRP, blood culture.
o CSF analysis: - For glucose, protein, Gram stain, culture and viral PCR
- Delay lumbar puncture if the baby is unstable
o TORCH Screen for suspected cases
o Neuro imaging : - Cranial ultrasound excludes intra cranial hemorrhage
- CT/MRI for brain malformations, and infarcts
o Electroencephalogram (EEG)
o Metabolic Screen if acidotic or family history: e.g. ammonia, amino acids,
lactate, urine amino acids and organic acids
o Karyotyping for dysmorphic babies
Differential diagnosis
Seizures should be differentiated from Jitteriness which is characterized by:
- Tremor like movements of limbs
- Precipitated by sensory stimuli.
- Stopped by holding the limb.
- No associated autonomic changes, ocular phenomena or EEG changes
- Seen in normal infant, drug withdrawal, hypocalcemia & hypoglycemia
Treatment
o Maintain ventilation which may be compromised during seizures and
following anti convulsants
o Rapidly identify and treat reversible causes of seizures
- Hypoglycemia o Glucose 10% I.V 2- 4 ml/kg
o May require continuous glucose infusion
- Hypocalcemia o Calcium gluconate 10% slow I.V 2 ml/kg
- Hypomagnesemia o Magnesium sulphate 50% I.M 0.2 ml/kg
o Start parenteral antibiotics (± acyclovir) if there is any concern of sepsis

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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o Anti convulsants
Start an anticonvulsant if ĺSeizure lasting > 5minutes
ĺ Brief but frequent seizures > 3 /hour
ĺ Prolonged desaturations
ĺ Hemodynamic instability
First line: Phenobarbitone
- Loading dose 20 mg/kg IV
- If seizures continue at 30 minuteso give another 10 mg/kg IV and take blood for
phenobarbitone level (Therapeutic phenobarbital levels are 20-40 ȝg/mL)
- If seizures remain uncontrolled o give further 10mg/kg IV (total 40 mg/kg)

If total loading dose of 40 mg/kg of phenobarbitone was ineffective

Second line : Phenytoin
- Loading dose 20 mg/kg slow IV over 30 minutes
- Monitor heart rate and blood pressure closely
- Better avoided in babies with poor cardiac function

Third lines
Lorazepam
ƒ 0.05 mg /kg IV repeated every 6-8 hours
ƒ Usually, it does not cause hypotension or respiratory depression
Midazolam
ƒ 0.05-0.1 mg/kg IV, with a continuous infusion of 0.5-1 micg/kg/min IV
ƒ Carry risk of hypotension and respiratory depression

If poor response to previous treatment

Therapeutic trials
x Pyridoxine or pyridoxal phosphate 100-200 mg IV with real time EEG
x The seizures abruptly cease, and the EEG normalizes in the next few hours
x If there is negative response to IV pyridoxine ,try:
- 1 week trial of pyridoxine 100 mg oral daily
- 6 weeks of pyridoxal phosphate 30 mg/kg oral daily
- Creatine 300 mg/kg daily + Folinic acid 2.5 mg bid + Biotin (10 mg od)
Maintenance treatment
x If seizures persist, use phenbarbitone 3-6 mg /kg in 2 divided doses started 24
hours after the loading dose
x Most will have stopped anticonvulsants except those with abnormal neurology

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Self Assessment Quiz

Case 13
A 4 days male infant presented in the outpatient department with bleeding from
circumcision site. The child was the product of a full-term, normal pregnancy in a 25 year
old mother with an uncomplicated antenatal period. Family history was negative for any
form of hereditary or acquired bleeding disorder. He was delivered by spontaneous vaginal
delivery at home without any intervention and was on exclusive breast feeds. Prothrombin
time (PT) and partial thromboplastin time (PTT) done at that time were markedly elevated
with hemoglobin 11.5 gm/dl
a. What is the most likely diagnosis?
b. What are the 3 most important lines of treatment?

Case 14
A full-term infant is born after a normal pregnancy; delivery, however, is complicated by
marginal placental separation. At 12 h of age, the child, although appearing to be in good
health, passes a bloody meconium stool.Intramuscular vitamin K was administered in the
delivery room. Clinically the baby was well and all clotting indices and hemoglobin were
normal
a. What is the expected diagnosis?
b. How to confirm?

Case 15
A female baby was born at 38 weeks of gestation by spontaneous delivery. Birth weight
was 3470 g and Apgar score 1/3/3 (at 1 minute,5 minutes and 10 minutes). After delivery,
the baby needed immediate cardiopulmonary resuscitation with intubation, external cardiac
massage, ventilatory assistance and an immediate blood transfusion for severe anemia (Hb
2.5 g/dL). Severe metabolic acidosis was present (pH 6.81), with arterial hypotension
(41/19 mmHg)
a. What is the clinical scenario?
b. How can you predict neurologic outcome?

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Causes of Neonatal Respiratory Distress

I. Central
CNS failure: Due to Manifested by:
- Over sedation - Slow, irregular, gasping respiration.
- Perinatal asphyxia - Apneic attacks.
- Intra cranial hemorrhage - Disturbed consciousness.
- Poor reflexes
II. Peripheral
A. Pulmonary
Lungs
- Transient tachypnea of newborn (TTN)
- Respiratory distress syndrome (RDS)
- Meconium aspiration syndrome (MAS)
- Congenital pneumonia
- Congenital lobar emphysema
- Lung collapse, Cysts, Hypoplasia

Pleura
- Air leak e.g. Pneumothorax
- Congenital diaphragmatic hernia (CDH)
- Pleural effusion.

Airways
- Vascular ring
- Bilateral choanal atresia
B. Extra Pulmonary
1. Cardiac 2. Metabolic 3. Hematologic

x Heart failure x Metabolic acidosis x Anemia

x Duct dependent x Hypoglycemia x Polycythemia
Congenital heart diseases x Hypothermia
x Critical obstructive lesions
Clinical signs of peripheral respiratory distress
Grade I (Mild) o Tachypnea (> 60 / min) & working alae nasi
Grade II (Moderate) o As mild plus intercostal & subcostal retractions
Grade IIII (Severe) o As moderate plus grunting
Grade IV (Advanced) o As severe plus central cyanosis, disturbed consciousness

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Initial management of babies presenting with respiratory distress

1. Resuscitation and ensure temperature stability
2. Pulse oximetry and supplemental oxygen
3. Chest radiograph : immediate if significant respiratory distress or delayed until 4
hours if mild respiratory distress
4. Review history : gestation, rupture of membranes, type of delivery, meconium
stained amniotic fluid, maternal diabetes
5. If RDS suggested consider intubation and early surfactant and/ or CPAP
6. Assess for clinical improvement regarding:
o Well/ unwell, pink/pale/blue
o Perfusion
o Signs of respiratory distress
o Oxygen saturation

x Clinical improvement ĺobserve over 10 - 20 minutes ĺ if quiet tachypnea ĺ

consider TTN ĺ routine neonatal care
x Consider echocardiography if lung fields in chest radiograph is clear
x Proceed to further support if any of the following exists:
1. No clinical improvement
2. Condition deteriorates
3. Abnormal chest radiograph
4. Infant requires > 40% oxygen to maintain saturation

x Establish IV access
- Umbilical venous catheter and start IVF 60 ml /kg/day initially 10% dextrose
- Consider umbilical arterial catheter for blood pressure monitoring and ABG
analysis if the infant's inspired fraction of oxygen exceeds 40%
x Blood tests
ƒ Blood glucose
ƒ CBC with differential
ƒ CRP
ƒ Blood culture; Not helpful initially as results may take 48 hours
ƒ Blood gases
x Start IV antibiotic ; Benzylpenicillin ( or Amoxicillin) and Gentamicin

Respiratory support (see RDS)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Respiratory Distress Syndrome (RDS)

(Hyaline membrane disease)
Definition
A syndrome of respiratory distress occurs almost exclusively in premature due
to surfactant deficiency
RDS is the commonest cause of neonatal death.
Surfactant
A lipoprotein produced by alveolar cells
type II starting after 20th week of gestation
and mature after 35th weeks (near term).

Composed mainly of:

- Dipalmitoyl phosphatidylcholine (Lecithin).
- Phosphatidyl glycerol.
- Surfactant proteins A, B ,C& D

Functions: reduce surface tension within the alveoli so,

prevent their . collapse at the end of expiration and
reduce the lung stiffness and work of breathing
Causes of RDS
1. Prematurity
o The leading cause of RDS
o Incidence & severity of RDS are related inversely to the gestational age of
the newborn infant e.g. about 60% of prematures < 28 weeks develop RDS
2. Infant of diabetic mother
- Fetal cortisone is essential for surfactant production
- Maternal hyperglycemia o fetal hyperinsulinemiao ĻĻ fetal cortisone
3. Cesarean section(CS) and precipitate labor:
- Due to lack of stressful delivery o reduced fetal cortisone.
4. Intrapartum asphyxia
- Due to hypoxemia of alveolar cells type II.
5. Others : Second twin, male Sex, RDS in Siblings
In contrast, the incidence of respiratory distress syndrome decreases with the following:
x Use of antenatal steroids
x Pregnancy-induced or chronic maternal hypertension
x Prolonged rupture of membranes
x Maternal narcotic addiction

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 217 Illustrated Baby Nelson

Pathophysiology

1. p Surfactant on alveolar surface

tension o diffuse alveolar
collapse during expiration

3. Impaired gas exchange with 2. Low lung compliance (higher

pressure is required to initiate lung
Hypoxemia
Hypercapnia inflation)oincreased work of
Respiratory acidosis breathing o respiratory distress

4. Hypoxemiao alveolar cells type II dysfunctiono more surfactant deficiency

o Progressive atelectasis

Clinical picture
o Progressive signs of respiratory distress are noted soon after birth and include
the following:
x Tachypnea

x Nasal flaring

x Expiratory grunting (from partial closure of glottis)

x Subcostal and intercostal retractions

x Cyanosis

x Extremely immature in neonates may develop apnea and/or irregular

respirations
x Patients may also have edema, ileus, and oliguria

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Page | 218 Illustrated Baby Nelson

o Course
x Endogenous surfactant production usually become sufficient by 48-72
hourso Clinical improvement is often heralded by spontaneous diuresis
and improved blood gas values at lower inspired oxygen levels and/or
lower ventilator support
x Severe cases may end in death or complications
Diagnosis
1. Clinical

RDS is suspected clinically in cases with early respiratory distress

in presence of risk factors particularly prematurity

2. Chest radiographs

A. Mild to moderate RDS

o Bilateral, diffuse, reticulo- granular
infiltrates (ground-glass appearances)
o Air bronchograms represent aerated
airways superimposed on a background
of collapsed alveoli
o Poor lung expansion (small lungs
volumes)

B. Severe RDS
Opacification of both lungs (White airless
lungs)

3. Blood gases analysis

o In Milder RDS: Hypoxemia

o In Severe RDS: Hypoxemia +
Hypercapnia +
Respiratory acidosis

4. Sepsis workup: blood cultures, a complete blood

count with differential, and C-reactive protein

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Fetal lung maturity tests

Prediction of fetal lung maturity is derived by:
1. Estimating Lecithin/sphingomyelin ratio in the amniotic fluid :
* If > 2 o Mature lung o No risk of RDS
* If 1.5-2 o Transitional lung o Risk of RDS
* If < 1.5 o Immature lung o Severe RDS
2. The presence of phosphatidylglycerol in the amniotic fluido No risk of RDS

Differential diagnosis
Other causes of early neonatal respiratory distress e.g.
Early-onset sepsis (GBS pneumonia)
Cyanotic heart disease
Prevention of RDS
x Antenatal steroids to enhance pulmonary maturity & surfactant production
ƒ Recommended for:
o Threatened preterm labour between 24-34 weeks gestation
o Recently approved for late preterm deliveries (34 - 36+6 )
ƒ Use : Betamethasone 2 doses 24 hours apart or dexamethasone 4 doses 12
hours apart
ƒ Precaution: monitor for hypoglycemia in newborn
ƒ Value :significantly reduce RDS, NEC and intracranial hemorrhage

x Control Risk factors e.g. maternal diabetes

x Expert Resuscitation
x Early alveolar Recruitment by immediate use of nasal CPAP
x Early administration of surfactant
Treatment of RDS
A. Supportive measures
x Incubator care in NICU and Respiratory support (See Before)
x Temperature : goal core temperature = 36.5 – 37 C
x Nutrition :
 Start with glucose 10 % and aminoacids (in exteremly prematures) at
rate of 65-75 ml /kg; increase gradually over the first week to 150-180
ml/kg ; avoid overhydration that may open ductus arteriosus
 Electrolytes added at 2-3rd day
 Monitor electrolytes and urine output

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Page | 220 Illustrated Baby Nelson

Respiratory Support
Aim:
o Keep arterial oxygen pressure between 50 and 70 mm Hg
o The currently recommended range of oxygen saturation targets is 91-95%.
I. Ambient /head box /nasal cannula / Vapotherm
If baby looks comfortable with good saturation and good blood gases ( pH >7.25
and PCO2 < 50 mmHg)
II. Nasal Continuous Positive Airway Pressure (nCPAP)
o Recruits and prevents collapse of surfactant-deficient alveoli
o Early use of CPAP for stabilization of at-risk preterm infants beginning as early
as in the delivery room reduces ventilatory needs
o Considered if oxygen saturation cannot be kept > 90% at inspired oxygen
concentrations of 40-70% or greater
o Another approach is to intubate the preterm infant, administer intratracheal
surfactant and then extubate the infant and begin CPAP.
o If an infant with RDS undergoing CPAP cannot keep oxygen saturation >90%
while breathing 40-70% oxygen, assisted ventilation and surfactant are indicated

III. Endotracheal intubation ( and Surfactant) and Mechanical Ventilation

x Consider for any of the following
o Baby unwell, marked recessions
o No improvement on CPAP :CPAP of 5-10 cm H2O cannot keep oxygen
saturation > 90% while breathing 40-70% oxygen
o Infants with respiratory failure
- Arterial blood pH <7.20
- Arterial blood PaCO2 RI•PP+J
- Arterial blood PaO2 of < 50 mmHg

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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 Page | 221 Illustrated Baby Nelson

IV. Surfactant
x Prophylactic treatment
- Indicated for very low birth weight < 30 weeks
- In the first few minutes of life before clinical or radiologic confirmation
of RDS
x Rescue treatment
- )RUEDELHV•ZHHNV
- Surfactant administered to ventilated infants with clinical and or
radiological signs of RDS
Types
x Natural
Suvanta (Bovine surfactant) o 4mL/kg (100mg/kg)
o Repeated if necessary every 6h (up to 4 doses)
Curosurf (Porcine surfactant) o Initial dose 2.5mL/kg (200mg/kg)
o Followed if necessary by 1.25mL (100mg)/kg
after 12 hours and 24hours
x Synthetic: Surfaxin which mimic human surfactant
Protocol
o Injected intra tracheal via endotracheal tube
o Observe the baby and ventilator settings closely for 30 minutes after the
dose
o Repeat blood gases after 30 minutes
o Avoid EET suction for 1-4 hours if possible
o Consider subsequent doses if
- Baby has high or increasing ventilator parameters after the 1st dose
- FiO2 > 30% despite adequate ventilator parameters
Side effects
x Bradycardia and desaturation
x Pulmonary hemorrhage
x Air leaks ; Pneumothorax
.

B. Antibiotics
o Start antibiotics in all infants who present with respiratory distress at birth
after the sepsis screen have been obtained.
o Discontinue antibiotics after 2-5 days if blood cultures are negative and no
maternal risk factors found

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Page | 222 Illustrated Baby Nelson

Complications of RDS
Disease related
o Patent ductus arteriosus (PDA) and heart failure
o Intraventricular hemorrhage (IVH)
Treatment related e.g.
o Bronchopulmonary dysplasia (BPD)
o Retinopathy of prematurity (ROP)
Prognosis: Inversely proportionate to gestational age.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Page | 223 Illustrated Baby Nelson

Transient Tachypnea of Newborn

o Commonest self-limited respiratory distress in full term

o Due to delay in clearance of fetal lung liquid
Risk factors
o Cesarean section
o Maternal asthma and smoking
o Maternal diabetes
o Maternal excess analgesia
o Perinatal asphyxia
Clinical picture
x Mild respiratory distress (tachypnea) within few hours after birth.
x The chest generally sounds clear without rales or rhonchi ( "quiet"
tachypnea)
x Spontaneous resolution usually occur within 72 hours
Chest X-ray
o Prominent perihilar streaking, which correlates with the engorgement of the
lymphatic system with retained lung fluid
o Fluid in the fissures
o Hyperinflated lung& mild cardiomegaly

Treatment
Supportive care as before
1- Provide oxygen as needed
2- Antibiotics
3- Infants with significant distress have poor bowel motility and require IV fluids

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Meconium Aspiration Syndrome

o Meconium-stained amniotic fluid (MSAF) occurs in about 15 % of deliveries

o Not all neonates with MSAF develop meconium aspiration syndrome (MSA)
o MAS occurs only in 5 % of infants with MSAF
Pathophysiology
1. Factors that promote the passage of meconium in utero include the following:
o Perinatal asphyxia

o Oligohydramnios

o Maternal infection/chorioamnionitis

2. Meconium may be aspirated before, during, or just after birth

3. Outcome of meconium aspiration:
- Complete airways obstructiono Patchy collapse
- Incomplete airways obstruction o Air trapping.
- Secondary infection & chemical pneumonitiso Surfactant dysfunction
- Pulmonary hypertension
Clinical picture
o MAS occur typically in term and post-term infants
o Skin, nails and umbilical cord may be meconium stained
o Signs of severe respiratory distress with grunting and cyanosis
o Barrel chest in the presence of air trapping
o Auscultated rales and rhonchi (in some cases)
o May have signs of neonatal encephalopathy
Chest radiograph
x Hyperinflated chest with patchy consolidations and collapse (A)
x May be air leak e.g. pneumothorax (B) , pneumopericardium (C)

B C

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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 Page | 225 Illustrated Baby Nelson

Management
A. management of meconium stained baby in the delivery room

Vigorous active neonate

- Breathing /crying
- HR >100/minutes
- Good tone
No
- Baby is flaccid
- Apneic Yes
- Bradycardic

o Clear the mouth and nose ƒ Should be treated as normal,

o Initiate resuscitative measures as per despite the presence of
meconium-stained fluid
NRP without delay including immediate ƒ The airway need not be inspected;
PPV and supplemental oxygen only further suctioning of the
o Suctioning of meconium from the mouth and nasopharynx as
airway prior to PPV is no longer required
recommended ƒ Keep with his mum

9 Because most cases of severe MAS with pulmonary hypertension have its origin
utero, resuscitative efforts shouldn’t be delayed with attempts to clear the airway. So,
Routine tracheal suctioning is no longer recommended
9 Intubation and suction only if the airway is obstructed

B. Treatment of MAS
x Respiratory support in NICU as before
x Consider early conventional mechanical ventilation (high oxygen, high
rate, long expiratory time ,low pressures, use sedation)
x Antibiotics
x Surfactant
x High frequency ventilation for conventional ventilation failure
x Extra Corporeal Membrane Oxygenation (ECMO) for severe MAS

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 226 Illustrated Baby Nelson

Neonatal Cyanosis
Definition
- Bluish discoloration of skin and mucus membranes due to presence of more
than 5 gm/dl reduced hemoglobin in capillary blood.
Causes
1. Peripheral: with e.g. shock, hypothermia and acrocyanosis
2. Central
A. Pulmonary e.g.
o Severe RDS
o Severe MAS
o Congenital diaphragmatic hernia
B. Cardiac
Congenital cyanotic heart diseases (CCHD) e.g.
o Transposition of great arteries
o Tricuspid atresia
o Tetralogy of Fallot
o Total anomalous pulmonary venous return
C. Hematologic
o Polycythaemia
o Methemoglobinemia(congenital or acquired)
Differential diagnosis
1. Cardiac causes o Emergency echocardiography
2. Hyperoxia test
Differentiate between pulmonary & cardiac causes of cyanosis if
emergency Echo is not readily available
x Perform arterial blood gases in room oxygen then give 100% O2 and
perform arterial blood gases again
x If PaO2 become > 150 mmHg after 100% O2 o pulmonary cause of
cyanosis.
x If PaO2 remain below 100 mmHg despite 100% O2 o cardiac cause
of cyanosis; These patients should receive PGE1 infusion to maintain
ductus arteriousus patent.
3. Blood examination o for polycythemia & methemoglobinemia

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 227 Illustrated Baby Nelson

Neonatal Apnea
Definition
o Pauses in breathing for > 15 seconds
o Apnea > 20 second is associated with bradycardia and desaturation
Etiology
1. Apnea of prematurity: causes
- Central (40%) : due to immaturity of respiratory centers
- Obstructive (10%) ; upper air way obstruction e.g. neck flexion
- Mixed (50%)
2. Systemic diseases
- Sepsis
- GORD
- Anemia /polycythemia
- Intra ventricular hemorrhage (IVH)
- Electrolyte disturbances /hypoglycemia
- Hypothermia
- Drugs e.g. sedation, prostaglandins
- Disorders e.g. RDS, PDA, NEC, Pierre – Robin sequence
Treatment
o Investigate and treat any possible underlying cause e.g.
- Full sepsis screen and start broad spectrum antibiotics
- GORD: ensure correct NG tube position, positioning the baby with
head up tilt, prone or lateral, reduce feed volume and increase
frequency, feed thickener and anti GOR medications
o Cardio respiratory monitoring
o Apnea chart to document frequency and severity of apnea.
o Interventions for apnea with bradycardia and desaturations:
x Tactile stimulation
x Supplemental oxygen
x Gentile oral suction
x Positioning: to avoid extreme flexion or extension of the neck
x Respiratory stimulants: started in the 1st few days of life for those <30 wks
- Aminophylline
- Caffeine citrate
x BiPAP(Biphasic Positive Airway Pressure) or SiPAP(Synchronized
Positive Airway Pressure)
x Mechanical ventilation if drugs fail.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 228 Illustrated Baby Nelson

Self assessment quiz

Case 16
This is a 29 week baby is brought to the neonatal unit. He was born in good condition
requiring minimal resuscitation and is put on to nasal CPAP in 25 % oxygen. Over the next
four hours, his condition deteriorates. Oxygen requirement increases. There is obvious
recession and he is having recurrent apneas. A capillary gas at this point shows mixed
acidosis

a. What is the most likely diagnosis?

b. What are the 3 appropriate actions
you should consider?
c. What does his chest x ray show?

Case 17
A 3-day-old, 790-g female infant had been ventilated for respiratory
distress syndrome and was being weaned effectively from the ventilator. Today she
is noted to have an active precordium, bounding pulses, and hypoxia with
hypercarbia.
a. What are the 2 most important investigations urgently needed?
b. What are the 3 most important differential diagnoses?

Case 18
A term 3500-g female delivered by cesarean section develops a respiratory rate of 70
breaths/min and expiratory grunting at 1 hour of life. She has good tone, good color, and a
strong suck.
a. What is the most likely diagnosis?
b. What are the 3 most important actions you should do?

Case 19
A girl is born via cesarean section to a 34-year-old mother whose pregnancy was
complicated by hypertension and abnormal fetal heart monitoring (cardiotocogram;CTG).
At delivery she is covered in thick, green meconium and is limp, apneic, and bradycardic.
What is the appropriate action plan?

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 229 Illustrated Baby Nelson

Abnormal Gestational Age And Birth Weight

Definitions

x Full term: Infant born between 37-42 weeks gestations regardless to his weight

x Premature (pre term): Infant born < 37 weeks gestations regardless to his weight

x Postmature (post term): Infant born > 42 weeks gestations regardless to his weight

x Small for date (small for gestational age or intra uterine growth retardation):
Infant with birth weight < 10th percentile of expected from his gestational age.
x Appropriate for date:
Infant with birth weight between 10th and 90th percentile of expected from his
gestational age.
x Large for date (Large for gestational age; macrosomia):
Infant with birth weight > 90th percentile of expected from his gestational age.
Low Birth Weight infants (LBW)
x Any newborn with birth weight less than 2.5 Kg
x Includes:- Premature & Small for Gestational Age
x If birth weight < 1500 grams it is Very Low Birth Weight (VLBW)
x If birth weight < 1000 grams it is Extremely Low Birth Weight (ELBW)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Page | 230 Illustrated Baby Nelson

Small for gestational age (SGA)

Alternative Names:
IUGR (Intra uterine growth restriction or Intra uterine growth retardation)
Infant with birth weight < 10th percentile of expected from his gestational age
Causes
Fetal causes Maternal causes
- Onset usually in the 1st trimester - Onset usually in the 2nd -3rd trimester
- Usually symmetric IUGR ;weight, - Usually asymmetric IUGR (Head sparing)
length and head are all <10th centile - Fetal anomalies less frequent
- Fetal anomalies common
- Congenital infections. - Maternal malnutrition and poor health
- Chromosomal disorders - Placental insufficiency
- Multiple congenital anomalies - Maternal smoking or drugs
Clinical Features
o Alert, active& hungry unlike the hypo activity of premature
o Good crying and suckling power
o Low weight (Head may appear large relative to the body)
o Loose, dry, scaling skinl with little subcutaneous fat
o Little muscle mass in the limbs and trunk
o Liable to intrauterine distress ĺ0HFRQLXPVWDLQLQJ
Complications
o Perinatal asphyxia
o Meconium aspiration
o Pulmonary hemorrhage
o Hypoglycemia, hypocalcemia and hypothermia
o Polycythemia and hyper bilirubinemia
Management
Antenatal (if IUGR suspected)
ƒ Repeat fetal ultrasound assessments as often as 1-2 times per week
ƒ Doppler blood flow studies (umbilical artery, umbilical vein, fetal aorta and
cerebral arteries)
ƒ Assessment of amniotic fluid volume (amniotic fluid index)
ƒ Cardiotocogram (CTG) assessment; may be daily
Natal/Postnatal
1. Consider early delivery based on the above assessments and gestation
2. Consider antenatal steroids
3. Expert resuscitation as per neonatal life support guidelines
4. Neonatal care as before
5. Encourage Early and frequent feeding
6. Anticipate and manage hypoglycemia, hypocalcemia and polycythemia

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Page | 231 Illustrated Baby Nelson

Prematurity
Features of preterm baby
1. Clinical picture of preterm
o Birth weight: < 2.5kg (except infant of diabetic mother).
o Birth length: < 47 cm (except infant of diabetic mother).
o Head circumference: < 33cm.
o Chest circumference: < 30 cm.
o Scalp hair: fine and woolly.
o Skin:
- Thin, pink, shiny, with little subcutaneous fat
- Covered with lanugo hair(fine hair present on infants of 24 to 32 weeks'
gestation).
o Nails: Don’t reach the finger tips.

2. Physical appearance: help in assessing gestational age:

o Ear o shapeless and soft (immature ear cartilage).
o Breast nodule o < 3mm diameter (or even No breast tissue palpable).
o External genitalia o Female: prominent clitoris, labia majora widely
separated, labia minora protruding
o Male: scrotum smooth, no testes in scrotum
o Sole creases o don’t reach beyond the anterior 2/3rd of sole (or even
absent).

3. Physiological features
o Activity: Weak crying and activity, hypotonic with frog leg posture.
o Hearing
o Startles to loud noise
o Cry: Faint
o Sucking and swallowing: uncoordinated
o Physiological jaundice:
- Delayed (after the 3rd day)
- Prolonged (for 2weeks)
- Deeper (up to 15 mg/dl).
4. Growth
o Preterm infants have rapid growth.
o Preterm infants at 28 weeks' gestation double their birth weight in 6 weeks
and treble it in 12 weeks

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Page | 232 Illustrated Baby Nelson

Complications of prematurity
Respiratory
Problem Etiology
o Respiratory distress syndrome - Surfactant deficiency
o Apnea of prematurity - Immature respiratory centre
- Weak chest wall Pliable
o Air leaks e.g. pneumthorax - Positive pressure ventilation
o Aspiration syndromes - Hypoactive gag and cough reflexes
o Bronchopulmonary dysplasia - Prolonged oxygen therapy/ventilation
Cardiovascular
Problem Etiology
o Patent ductus arteriosus - Fluid overload
o Heart failure - Fluid overload
- PDA
o Hypotension - Impaired water and electrolytes
regulation
Neurologic
Problem Etiology
o Kernicterus - Immature blood brain barrier
o Intraventricular hemorrhage - Fragile ,pressure passive cerebral
blood vessels
- Fluctuations in blood pressure
o Hypoxic-ischaemic - Many risk factors
encephalopathy
o Retinopathy of prematurity - See later
o Sensineural deafness - Late sequel to perinatal asphyxia
Hematologic
Problem Etiology
o Anemias - Frequent sampling
- Defective stores e.g. iron,folic,…
o Coagulopathy /DIC - Defective coagulation factors
Gastro intestinal
Problem Etiology
o NEC - See before
o Gastro oesphageal reflux - Weak FDUGLDĻJDVWULFFDSDFLW\DQG
disease(GORD) hyperactive pyloric muscles
o Poor weight gain - Poor suckling, swallowing and
digestion and absorption

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Page | 233 Illustrated Baby Nelson

Nutritional
Problem Etiology
o Osteopenia of prematurity - Phosphate deficiency
o Rickets - Vitamin D and calcium deficiency
o Malnutrition - High growth rate
- Poor suckling, swallowing and
digestion and absorption
- Little subcutaneous fat
Renal
Problem Etiology
o More prone to - Immature renal functions :
- Dehydration - p capacity of urine
- Metabolic acidosis concentration
- p capacity of acid formation
Metabolic
Problem Etiology
o More prone to
- Hypoglycemia - Little glycogen stores
- Jaundice - Immature hepatic enzymes
Immunologic
Problem Etiology
o More prone to
- Neonatal sepsis - Deficient humoral & cellular
- Neonatal meningitis immunity
- Decreased transplacental
antibodies
- Deficient physical barriers
- Invasive techniques as exchange
transfusion / catheterization /
intubation
Temperature control
Problem Etiology
o Hypothermia - Little subcutaneous fat
- Immature heat regulating center
- Large surface area relative to
weight o excess heat loss

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Page | 234 Illustrated Baby Nelson

Management of prematurity/SGA

Prenatal management
o Induction of fetal lung maturity by prenatal steroids for VLBW and ELBW
o Consider prenatal transfer to a higher center

Delivery room management

Resuscitation
o Resuscitate as usual very gently (see before)
o Keep dry and warm; plastic bags may be used
o Consider nasal CPAP very early
o Consider ET tube insertion if <28 weeks (oral distance = 6+ (wt in kg)
o Give surfactant if
- Intubation was required in resuscitation
- Preterm require > 40% oxygen to keep saturation >90% for 15-30 minutes
NICU management
Initial
o Venous access (UVC),and arterial line
o Start glucose infusion
o Give vitamin K 0.5 mg IM or IV
o Start empric antibiotics after cultures and swabs
o Respiratory support : Early CPAP, surfactant and
respiratory monitoring
o Circulation support
Further care
1. Thermoregulation and skin care
2. Fluids balance
Amount
- On the 1st day of life, 60-80ml/kg (90 ml/kg if VLBW)
- Advance by 20 ml/kg per day to a maximum of 150-180 ml/kg per day.
- Adjust up and down according to the infant's clinical condition, plasma
sodium, urine output(normal=1-3ml/kg/hour) and daily weight change
Type
- Dextrose 10% (or 5% in ELBW)
- Check electrolytes and calcium at 12-24 hours of age
- Electrolytes added after 24 hours of age, when urine output is adequate
- Basal needs are sodium is 2-3 mEq/kg/d, potassium 1-2 mEq/kg/d, and
calcium 45 mg/kg/d (elemental calcium).

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Page | 235 Illustrated Baby Nelson

3. Nutrition
A. Total Parenteral Nutrition (TPN)
x I.V. administration of all nutrients (fats, carbohydrates, proteins,
vitamins and minerals) necessary for metabolic requirements and
growth while awaiting attainment of adequate enteral intake
x Given via peripheral vein, UVC or peripherally inserted central
catheter(PICC)
x Calories
- Start with 50 kal/kg/day
- Increase slowly to 90-100 kal/kg/day by day 5 – 7 of life
- Energy targets (kcal/kg/day):120 for premature , 140 for IUGR
And 100 in term infants (Concise pediatrics)
x Macronutrients
Glucose Protein Lipid
Start 4-6 mg/kg/min 2-3 gm/kg/day 2 gm/kg/day
Start day 1st day 1st day 1st day
Advance by 0.5-1 mg/kg/min 1 gm/kg/day 0.5 gm/kg/day
Maximum 12 mg/kg/min 3.5-4 gm/kg/day 3gm/kg/day
Monitoring Blood glucose Blood urea nitrogen Serum triglycerides
Caloric share 50 % 10 % 40%
Preparation D5% for <1kg Aminovenous 10% Intralipid 20%
D10% for >1 kg (1 grams/10ml) (2gram/10ml)
Concentrations > Aminosyn-PF More phospholipids
12.5% ;use TrophAmine Intralipid 10%
central line (1gram/10ml)
(Manual of neonatal care 2017)
x Micronutrients
- Water soluble vitamins (Soluvit)
- Lipid soluble vitamins (Vitalipid 4ml/kg/day added to intralipid)
- Phosphate(Glycophos)
- Trace elements
B. Enteral feeding
o Avoid in
ƒ Babies on pressors e.g. Dopamine
ƒ Hemodynamically significant PDA requiring indomethacin or
ibuprofen or surgical closure
ƒ Sepsis/suspected sepsis
ƒ Abnormal GIT examination or large/green residuals

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Page | 236 Illustrated Baby Nelson

o Enteral feed choice

ƒ Mother’s Breast milk plus fortifiers or premature formula
o Route
ƒ Nasogastric tube(NGT) until 35-36 weeks of age
ƒ Large preterm >35weeks can be fed by suckling
o Plan
ƒ Trophic feeding (minimal enteral feeding)
- Started at 48 hours for 3 days
- Amount: 1 mL q 2- 4 hrs.
- Precautions:
a) Feeds should be stopped only if there are signs of
intolerance ; abdominal distension, significant vomiting,
bilious aspirates or if NEC is suspected.
b) Recommence after 4-6 hrs as symptoms resolve
ƒ Nutritional feeding
- Started on day 5 or at 48 hours for stable babies > 1kg
(When it is clear that minimal enteral feeds are tolerated)
- Amount :1- 2mL q 3 hrs
- Feeding advance: 1mL q 8 hrs
C. Nutritional supplements (mainly for those born at <34 wks gestation)
o Multivitamin drops
- Started by 2 weeks of age (or at start of enteral feeds if later)
- Orally, once daily for up to 1yr
- Vitamin D 1000 IU/day, Folic acid 1 mg/day, Vit E 6-8 IU/day
o Iron
- Begin by 2-4 weeks of life when enteral feedings are tolerated
- Dose 2-4 mg elemental iron/kg/day until 6 months corrected age

4. Identify and treat complications e.g.

a. Episodes of apnea and bradycardia and desaturation
o Exclude an underlying cause.
o Caffeine citrate
o CPAP is often necessary
b. Intraventricular hemorrhage
o Usually occur within the first 72 hours of life
o Common in those with perinatal asphyxia and severe RDS
o Management (see before)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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c. Patent Ductus Arteriosus (PDA)

o May be asymptomatic
o May cause
- Apnea and bradycardia
- Increased oxygen requirement
- Difficulty in weaning the infant from artificial ventilation
- Bounding pulse , basal systolic murmur and heart failure
- Echocardiography is diagnostic
o Management (for symptomatic infant)
- Avoided by careful fluid balance
- Restrict current IV fluids
- Pharmacologic closure with indomethacin or ibuprofen
- Surgical ligation if pharmacologic closure fail
d. Retinopathy of prematurity (Retro-lental fibroplasia)
Definition
o Retinal vascular proliferation which may progress to retinal detachment,
fibrosis and even blindness
Risk factors
o All babies < 1500 g birth weight or < 32 weeks' gestational age
o Exposed to uncontrolled high concentrations of oxygen (controversial)
Clinically
o No warning signs, so
screening of babies at risk
is mandatory
o Often gradually occurring
astigmatism, retinal
detachment , and
amblyopia

Management
Preventive
- Screening of babies at risk is before discharge, and at 3 months of age
- Lowest O2 for the least duration if O2 therapy is indicated (controversial)
Curative
- Laser therapy
- Follow up the affected babies at 6 months intervals

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Page | 238 Illustrated Baby Nelson

e. Bronchopulmonary dysplasia (BPD) /Chronic Lung Disease

x Infants who are oxygen dependent at a post-menstrual age of 36 weeks
x Lung damage is due to pressure and volume trauma from artificial
ventilation, oxygen toxicity and infection.
x Chest X-ray :shows widespread areas of opacification, sometimes with
cystic changes
x These babies are more susceptible to recurrent wheezing, severe
bronchiolitis and chest infections
f. Neurodevelopmental problems
High incidence of
o Cerebral palsy
o Delayed language development
o Sensorineural hearing loss and visual impairment.

Discharge from incubator

a. Criteria for discharge
x Infant > 1800 grams with good suckling.
x Adequate oral feeding ( can tolerate 150 ml/kg per day)
x Maintain his temperature outside the incubator
x Normal vital data outside the incubator.
x No critical illness nor abnormal lab findings
x Infants with mild BPD may be discharged home on home oxygen
therapy with nasal cannula
b. Make notes for
x Clinical examination with discharge weight and head circumference
x Discharge summary and discharge medications prescribed
c. Instructions to the parents:
x Keep infant away from infection ; minimize handling and over crowding
x Schedule for feeding
x Schedule follow up visits to monitor growth, feeding and
neurodevelopment and vaccination (according to chronologic age )
x Advice given to parents regarding how and when to seek medical advice
d. Some babies require arrangements for:
x Hearing screening
x Screening for retinopathy of prematurity
x Hip ultrasound e.g. if family history of developmental hip dysplasia or
breech delivery (usually done at 4 weeks of age)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Page | 239 Illustrated Baby Nelson

Postmaturity
Definition
Infant born after 42 completed weeks of gestation, as calculated from the mother's
last menstrual period, regardless of weight at birth
Causes
- Unknown in most cases.
- High incidence with trisomies or anencephaly.
Features
(Most features are due to placental insufficiency)
o Face : opened eye and alert baby
o Skin : pale,wrinkled, peeling, no lanugo hair r meconium staining.
o Nails : long nails.
o Weight : average or decreased
o Normal length and head circumference

Complications
x Perinatal asphyxia r Meconium aspiration syndrome
x Hypoglycaemia (depleted glycogen stores).
x Polycythaemia
x Hypocalcaemia.
x Persistent pulmonary hypertension
Prognosis
When delivery is delayed 3 wk or more beyond term, mortality is significantly
increased; approximately 3 folds as for full term

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Page | 240 Illustrated Baby Nelson

Neonatal Hypoglycemia

Definition
x In neonates; there is no consensus about blood glucose level below which
hypoglycemia is defined
x Practical definitions (not evidence based)
- In the first 24 hours: blood glucose < 40 mg/dl ( 2.2 mmol/l)
- Above 24 hours after birth: blood glucose < 45 mg/dl (2.5 mmol/l)
x WHO recommends keeping blood glucose > 47 mg/dl (2.6 mmol/l)
(Neonatal Emergencies, Harvard University, 2010)
Risk factors for hypoglycemia
1. Increased demand or decreased supply
o Small for gestational age
o Preterm
o Perinatal asphyxia
o Polycythemia
o Hypothermia
o Neonatal sepsis
2. Hyperinsulinism e.g.
o Large for gestational age e.g. Infant of diabetic mother
o Hemolytic disease of newborn
o Beckwith Wiedemann syndrome
3. Endocrinopathy
o Growth hormone deficiency
o Congenital adrenal hyperplasia
4. Inborn errors of metabolism
o Glycogen storage disease
o Galactosemia
o Organic academia
o Fatty acid oxidation defects
Clinical Picture
1. Asymptomatic: common presentation
2. Symptomatic:
- Jitteriness - Apneic episodes
- Tachypnea - Lethargy or floppiness, poor feeding
- Pallor - Cyanosis
- Weak or high-pitched cry - Convulsions or eye-rolling

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 241 Illustrated Baby Nelson

Management
Routine screening and monitoring of blood glucose is recommended only for
infants who have risk factors or who have clinical manifestations
1. Asymptomatic high risk babies
x Keep warm
x Feed early (within 1 hour of birth ) and if enteral feeding contraindicated
start glucose 10% (D10%)infusion
x Glucose screening 30 minutes after the first feed
x If low despite feeding, give D10% bolus of 2-4 ml /kg IV
x Monitor blood glucose before 2nd,3rd ,4th feeds and until at least 2
consecutive normal blood glucose
x If the baby is already on IVF, ensure that glucose intake is appropriate
Glucose intake (mg/kg/min) = fluid rate (ml/hr) × % glucose / 6 × weight (kg)
ƒ In term = 3-5 mg/kg/min
ƒ In preterm = 4-6 mg/kg/min
ƒ In SGA = 6-8 mg/kg/min

2. Symptomatic
x Immediate D10% bolus 2- 4ml/kg followed by continuous D10% IV infusion
x If hypoglycemia persists; Ĺ glucose infusion rate steadily up to 10-12 mg/kg/min
x If hypoglycemia persists; add hydrocortisone 2.5 mg /kg 6hourly
x Monitor blood glucose frequently until stable

A. Blood glucose stable • 50 mg/dl for 24 hours

x Withdraw hydrocortisone slowly
x Taper the infusion gradually and advance feeding

B. Consider hyperinsulinism if glucose infusion rate • 12 mg/kg/min

o Workup include: Hypoketotic hypoglycemia with increased c peptide
o Drug options: Glucagon ,Diazoxide, Somatostatin analogue

C. Persistent hypoglycemia
x Investigate for endocrinopathy
x Investigate for inborn errors of metabolism

N.B: - Blood glucose results <40 mg/dl should be confirmed in the laboratory
- Dextrose concentration > 12.5% should be given via a central venous line

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 242 Illustrated Baby Nelson

Infant of diabetic mother

Definition
x Neonate born to diabetic mother (Frank or gestational diabetes mellitus).
Features
x Commonly delivered preterm with ĹELUWKZHLJKW/DUJHIRUJHVWDWLRQDODJH
x Plump with puffy plethoric facies
Why?
Maternal hyperglycemia o fetal
hyperglycemia o increase fetal hepatic
glucose uptake, glycogen synthesis &
enhance lipogenesis & protein synthesis o
macrosomia (increased growth of all
organs except for the brain)
Common problems
2. Metabolic
o Hypoglycemia (in 25 %) due to: Maternal hyperglycemia o fetal
hyperglycemia o increased fetal insulin production. After birth o
interruption of high maternal glucose to the neonate while
hyperinsulinemia is going on o hypoglycemia (usually marked after 1-3
hours postnatal)
o Hypocalcaemia & hypomagnesemia due to: transient hypoparathyroidism
o Hyperbilirunbinaemia due to: polycythaemia and reduced RBCs life span
(Both hypoglycemia and hypocalcaemia ojitteriness and seizures)
3. Respiratory
o Respiratory distress syndrome
o Transient tachypnea of newborn
4. Hyper insulinemic features
o Macrosomia may predispose to difficult labor & birth injury
o Transient hypertrophic cardiomyopathy
o Visceromegaly
o Polycythemia (Renal vein thrombosis is common)
4. Congenital anomalies (are 3 fold common, especially)
o Congenital heart diseases
o Sacral agenesis
o Left microcolon
o Neural tube defects

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 243 Illustrated Baby Nelson

Management
* Proper control of maternal diabetes and follow guidelines for preterm delivery
* Natal and postnatal
x Delivery room and NICU care
x Treatment of hypoglycemia
- Encourage early feeding
- Monitor blood glucose before every feed
- Manage hypoglycemia as before
x Observe for and manage complications
- Polycythemia ( hydration , partial exchange)
- Jaundice (phototherapy)
- Echocardiography if heart murmurs or other signs suggesting
congenital heart or cardiomyopathy
x Discharge if no hypoglycemia for 24–48 hours on enteral feeds only and no
other complication

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 244 Illustrated Baby Nelson

Oesophageal atresia / Trachea Oesophageal Fistula

Definition
o Congenitally interrupted esophagus
o One or more fistulae may be present between the malformed esophagus and
the trachea.
Clinical types

Type A (10%) Type B (< 1%) Type C (85%) Type E ( 4%)

Oesophageal atresia Oesophageal atresia Oesophageal atresia TOF without
without fistula (pure with proximal TOF with distal TOF oesophageal atresia
esophageal atresia) (H-type fistula)

Incidence
o 1:3500 live births
o More than half will have additional malformations
History
Antenatal ultrasound sometimes shows
o Polyhydramnios
o Absent stomach bubble
o Associated congenital anomalies
Clinical features
o Excessive production of frothy saliva
o Episodes of chocking and cyanosis exacerbated with attepts at feeding
o Failure to pass naso gastric tube
Investigations
o Chest x ray with naso gastric tube in situ reveals tip of tube in the
oesophageal pouch ; presence of gas in stomach indicate a fistula
o Barium swallow can detect H type (avoided in atresia; risk of aspiration !!)
o Search for other anomalies by Echo , renal ultrasound ,spine x ray

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Plain x ray chest shows Barium swallow shows Barium swallow

curling up of the NGT in barium filled esophageal shows H shaped
the oesophgeal pouch pouch TOF
Management
x Nurse head up and prone
x Pass a large bore tube and keep on low level suction to prevent aspiration of
secretions
x Transfer to a surgical center when stable for repair

Duodenal atresia
Definition
Congenital discontinuity of the duodenum usually in the region of the ampulla of
Vater that leads to bowel obstruction
Incidence
Down syndrome (30%), prematurity and malrotation
Clinical features
o Antenatal history of polyhydramnios
o Bilious vomiting within hours of birth
o Distended stomach
o Delayed passage of and small amounts of meconium
Investigations
o Abdominal x ray :double bubble sign of distended
o stomach and duodenum
o Blood : electrolytes, glucose and blood gases
Treatment
x Stop enteral feeding, start IVF, and insert nasogastric tube on free drainage
x Correct electrolyte and acid base disturbances
x Transfer to a surgical center when stable for repair

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Benign Neonatal skin disorders

Criteria
x Etiology is unknown in most of them
x Require no treatment
x Fade spontaneously

1. Erythema toxicum neonatorum

o Benign, self-limited, asymptomatic disorder
o Lesions usually begin 24 to 48 hours after birth
o Intense erythema with a central papule or pustule
that resembles a flea bite
o The eruption fades spontaneously within 5 to 7 days.
No treatment is necessary

2. Transient Neonatal Pustular Melanosis

o Presents at birth with 1- to 2-mm sterile
vesiculopustules or ruptured pustules
o Disappear in 24 to 48 hours, leaving pigmented
macules with a collarette of scale

3. Neonatal acne
o Multiple, 1- 2-cm ,yellowish-white papules
o Usually located over the nose and cheeks of full-term infants
o It represents a normal physiologic response to maternal androgenic
stimulation of sebaceous gland growth

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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4. Cutis Marmorata
o Transient, netlike, reddish-blue mottling
of the skin caused by variable vascular
constriction and dilatation
o It is a normal response to chilling, and on
rewarming, normal skin color returns

5. Mongolian spots
o Flat, slate-gray to bluish-black, poorly
circumscribed macules.
o They are located most commonly over
the lumbosacral area and buttocks
o More in dark skinned infants

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Diaper Dermatitis

1. Irritant Diaper Dermatitis

o The diaper area is bathed in urine and stool
and occluded by plastic diaper covers
o Failure to change diapers frequently
provides time for fecal bacteria to form
ammonia by splitting the urea in urine
o Erythema; scaling; and, at times, maceration
are usually confined to the convex surfaces of the perineum, lower
abdomen, buttocks, and proximal thighs, sparing intertriginous areas
Treatment
- Frequent diaper changes and gentle cleansing
- Lubricants and barrier pastes
- A short course of low-potency steroids may hasten resolution.

2. Candidal Diaper Dermatitis

o A common sequela of oral or parenteral antibiotic therapy
o Bright red eruption, with sharp
borders and pinpoint satellite
papules and pustules
o Intertriginous areas are
involved
o May be with oral thrush
Treatment
- Topical antifungal therapy
- The occasional resistant case may require a brief course of oral medication.

3. Staphylococcal Diaper Dermatitis

o Thin-walled pustules on an
erythematous base
o Typically, these rupture rapidly and
dry, producing a collarette of
scaling around the denuded red base
Treatment
- Oral and topical antibiotics

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Examination of newborn

Quick examination

Value: detect life threatening insults

x Apgar scoring Ÿ (done at 1, 5 minutes; at 5 minutes is more important).
x Normal newborn is conscious, active, alert
x Color
o Normal newborn is pinkish in color.
o Abnormal appearance of the newborn may be:
- Pallor
- Plethora
- Cyanosis
- Jaundice
x Vital signs
o Heart rate (120 – 140 beat/minute)
- < 80 o Bradycardia
- > 180 o tachycardia
o Respiratory rate (§40 /minute)
- > 60 o tachypnea (RD)
o Temperature (36 – 37.5oC)
- < 35.5 o hypothermia
o Mean blood pressure (should equal gestational age in weeks)
x After the end of quick examination the newborn will be considered as
o Normal o Proceed to other lines of examination.
o Abnormal o Admit e.g. to NICU
Detailed examination
Measurements
o Weight
o Length
o Head circumference
Regional examination
a- Head
- Anomalies / dysmorphism
- Birth trauma
- Fontanels

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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- Congenital cataract /subconjunctival hemorrhage

- Oral moniliasis
b- Neck
o Short neck or webbing (Turner).
o Goitre (enlarged thyroid).
c- Limbs
o Birth trauma /Malformations.
o Developmental Hip Dysplasia (DDH)
Risk factors
o Family history
o Breech presentation
o Olighydramnios
o Congenital myopathies and neurological disease
Screening
o If risk factor present and newborn
examination is normal
o Hip ultrasound scan at 4-6 weeks
o Refer to orthopedics only if ultrasound abnormal
Abnormal clinical examination include
x Positive Ortolani s test (Abducting the femur produces a palpable clunk)
x Positive Barlow s test (femoral head pushed more away from acetabulum)
x Asymmetrical gluteal creases
x Limited hip abduction
x Unequal leg length
If hip examination confirmed to be abnormal
x Arrange for early hip ultrasound (Between 2- 4 weeks of life)
x Arrange early orthopedic referral

d- Genitalia
o Ambiguous genitalia
o Undescended testis/ Hypospadius
e- Skin
o Meconium staining skin , nails and umbilical stump
o Edema (Hydrops fetalis).
f- Urine and stool
o Normal neonate should pass urine & meconium within 24 hrs of birth
Systemic examination
a- Cardiovascular system
o Apex beat: Normally in Left 4th space at the mid clavicular line.
o Murmurs: Most of murmurs in early neonatal period are transient
o Femoral pulsations: If absent Aortic coarctation is suspected.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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b- Chest examination
o Signs of respiratory distress.
o Apnea.
o Auscultation for wheezes, crepitations, …..
c- Abdominal examination
o Liver may be palpable 2 cm in neonates
o Check for organomegaly, ascitis, umbilicus, …..
o Causes of neonatal abdominal masses e.g.:
- Hydronephrosis.
- Multicystic – dysplastic kidney.
- Ovarian cyst.
- Intestinal duplication.
- Neuroblastoma.
- Wilm’s tumor.
o Scaphoid abdomen with severe respiratory distress strongly suspect
congenital diaphragmatic hernia
d- Neurological examination
o Level consciousness.
o Muscle tone (normally flexed all limbs).
o Neonatal reflexes.( tendon reflexes and primitive reflexes)

Special examination
1. Check for congenital anomalies e.g.
x Cleft lip
x Tracheo-esophageal fistula
x Limb anomalies e.g. talipes equinus
x Congenital heart diseases
x Imperforate anus.
2. Search of birth injuries e.g.
x Cranial injuries
x Nerve injuries
3. Assessment of gestational age
x From the history (last menstrual period).
x From the ultrasound exam. during pregnancy
- Biparietal diameter
- Femoral length
x From physical and neurological assessment: New Ballard Score

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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The New Ballard Score

x A set of procedures developed by Dr. Jeanne L Ballard, to determine gestational
Age through neuromuscular and physical assessment of a newborn fetus
x Usually done after newborn stabilization
A. Neuromuscular maturity
Sign score

Posture Square window test

Arm recoil Popliteal angle

Scarf sign Heal to ear

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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 Page | 253 Illustrated Baby Nelson

B. Physical maturity
Sign Score Sign
-1 0 1 2 3 4 5 score
skin Sticky, Gelatinous, Smooth Superficial Cracking, Parchment, Leathery,
friable, red, pink, visible peeling &/or pale areas, deep cracking, cracked,
transparent translucent veins few veins rare veins no vessels wrinkled
Lanugo none Sparse Abundant Thinning bald areas mostly bald
Plantar Heel-toe > 50 mm Faint red Anterior Creases Creases over
surface 1:40- 50 mm no crease marks transverse ant. 2/3 entire sole
2: < 40 mm crease only
Breast Imperceptible Barely Flat areola Stippled Raised Full areola
perceptible no bud areola areola 5-10 mm bud
1-2 mm bud 3-4 mm bud
Eye /ear Lids fused Lids open Curved Well-curved Formed & Thick
1: loosely pinna flat pinna; soft; pinna; soft firm cartilage
2: tightly stays folded slow recoil but ready instant ear stiff
recoil recoil
Genitals Scrotum flat, Scrotum Testes in Testes Testes Testes
Male Smooth empty, upper descending, down, pendulous,
faint rugae canal, few rugae good rugae deep rugae
rare rugae
Genital Clitoris Prominent Prominent Majora & Majora Majora cover
Female prominent & clitoris & clitoris & minora large, clitoris &
labia flat small labia enlarging equally minora minora
minora minora prominent small
Total physical maturity score

Total score Weeks

-10 20
Skin Lanugo hair
-5 22
0 24
5 26
10 28
15 30

Plantar surface Breast tissue 20 32

25 34
30 36
35 38
40 40
45 42
50 44
Ear pinna Genitalia

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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‫‪Students Notes‬‬

‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‪.‬‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ ‫ﺭﻓﻌﻪ ﺩ‪ .‬ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‪.‬‬

‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‪14‬‬
‫‪Pediatric life support‬‬
‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‪.‬‬
‫ﺩﻋﻮﺍﺗﻜﻢ‬ ‫ﺭﻓﻌﻪ ﺩ‪ .‬ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‪.‬‬

‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‪14‬‬
Page | 255 Illustrated Baby Nelson

Pediatric Basic Life Support (BLS)

x Step by step maneuvers that done by a rescuer to save life of an apparently
collapsed victim
1. Safety: of the rescuer and then the victim
2. Stimulate
- Verbal and tactile stimulation.
- Never shake child.
œIf the child responds:
- No need for the Cardio pulmonary resuscitation (CPR).
- Reassess the case.
œIf does not respond: proceed in CPR
3. Shout
œShout for “help” while remaining with the child.
œ Initiate BLS maneuvers immediately.
œAlert the emergency Medical Services EMS providing the
following information:
1- Location of the emergency and telephone number used.
2- Type of accident, severity, and urgency of situation.
3- Number and age of victims.
4- End the phone call only after the controller.
4. Airway
A) Opening the airway:
x secure the airway in the unconscious by one of the following methods:
1- Head-tilt-chin lift:
— Suitable for all cases except when cervical trauma
is suspected.
- Tilt the head back with one hand on the forehead .
- Place the head in neutral position in infants and
slightly extended in older child
- Lift the chin upwards with finger tips of the other
hand.
2- Jaw thrust maneuver:
— For suspected cervical injury.
- The hands placed on either side of the child head.
- raise both angles of the child’s lower jaw
- Rescuer’s elbow should rest on the surface on
which the victim is lying.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Page | 256 Illustrated Baby Nelson

B) Checking the air way:

- Look into the mouth.
- Bind finger sweeps must never be performed
- If there is visible foreign bodies that can be removed by one finger sweep the
rescuer can try if not, leave it.
5. Breathing
x Check breathing: look, listen and feel (time allowed 10seconds).
x If the child is breathing spontaneously and effectively: reassess.
- If no spontaneous effective breathing: rescue breathing.
- Rescue breaths: up to five initial rescue breaths should be attempted, each
breath should be slow, 1-1.5 seconds and taking breath inbetween .
Techniques of breath:

1. For infantsŸ Mouth-to-mouth 2. For childrenŸ Mouth-to-

and nose mouth, (nostrils should be closed).
— If chest movement not seen check position of airway.
— If despite repositioning of airway, foreign body obstruction is suspected.
— Once initial rescue breath has been delivered proceed to circulation.
6. Circulation
x The standard method for assessing circulation is feeling effective central pulse.
- In infants: brachial pulse or femoral pulse.
- In children: carotid artery.
x Observe sings of circulation “signs of life” as cough, moving or normal breath as not
to spend time in feeling pulse.
x If pulse is found or there are signs of life: reassess breathing
x If no effective spontaneous breathing, rescue breaths should be continued at a rate of
20 breaths/min.
x If signs of circulation are absent e.g.:
- No pulse
- No signs of life.
- Pulse is very slow < 60/min, with signs of poor perfusion Or you are totally
unsure

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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DecisionŸ start external chest compressions.

Principles of external chest compression (ECC):
— Serial rhythmic compressions of the anterior chest wall that causes blood to flow to
the vital organs.
— Place the child supine on a hard flat surface while keeping airway opened.
— Depress the chest tip approximately 1/3 to 1/2 the antero posterior diameter.

1. In infants: 2. In children:
- Site of compression is one finger - Site of compression is one finger
breadth below the inter-nipple line breadth above xiphoid process.
- Use two fingers technique or two - One hand technique is
thumbs-encircling hands technique. recommended for child<8 years
- In older child (>8years) use two
hands technique.
Compression ventilation ratio:
x In new born ratio of 3/1
x In infants and children ratio of 5/1
x In children > 8 years and adults ratio of 15/2
Reassess
x After one minute CPR delivering, the rescuer should briefly stop to assess the ABC.

Recently, for cases of cardio pulmonary arrest, resuscitation algorithms

follow C-A-B: circulation (compressions)-Airway –Breathing instead of
traditional A-B-C

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Anaphylaxis
Anaphylaxis
ƒ A serious IgE-mediated allergic reactions
ƒ On exposure to the sensitizing allergen, mast cells and basophils, and
macrophages, release a variety of mediators (histamine, tryptase) and
cytokines that can produce allergic symptoms

Presentation
 The onset of symptoms may vary depending on the cause of the reaction.
 Reactions from ingested allergens (foods, medications) tend to have more
gastrointestinal symptoms And delayed onset (minutes to 2 hr) compared
with those from injected allergens (insect sting, medications)

Diagnosis
Anaphylaxis is highly likely when any 1 of the following 3 criteria is
Fulfilled:

1. Acute onset of an illness (minutes to several hours) with

ƒ Skin and/or mucosal tissue ĺGeneralized hives, pruritus or flushing,
swollen lips/tongue/uvula.
ƒ And at least 1 of the following:
a. Airway obstruction by edema: stridor or wheeze/bronchospasm.
b. Hypotension, or collapse or syncope

2. Two or more of the following that occur rapidly after exposure to a likely
allergen for that patient (minutes to several hours):
a. Involvement of the skin/mucosal tissue (as above)
a. Airway obstruction by edema: stridor or wheeze/bronchospasm.
b. Hypotension, or collapse or syncope
d. Persistent gastrointestinal symptoms (e.g. colic, vomiting)

3. Hypotension following exposure to known allergen for that patient

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Management
9 Anaphylaxis is a medical emergency requiring aggressive management
9 Overall principles of management of anaphylaxis include:
ƒ Look for any allergen and remove/ Check MedicAlertR bracelet
ƒ Call for help
ƒ Give high-flow oxygen
ƒ Rapid cardiopulmonary assessment of ABC.
If a problem is identified with A or B or C, give IM Adrenaline
IV adrenaline should only be given to monitored patient in cardiopulmonary arrest.

Flow chart for anaphylaxis

1. Define anaphylaxis And signs of allergy
2. Assess ABC
3. No upper airway compromise nor shock nor wheezing: ĺ5HDVVXUH
oral antihistamines and observe carefully for 4 hours.
4. No upper airway compromise nor shock but wheezing exists:
ĺNebulized salbutamol + Oral prednisolone + Oxygen, if needed
1. Observe carefully for 4 hours is mandatory as anaphylaxis may have a
biphasic component
2. Reassess for symptom progression
3. Oral antihistamine +/í oral prednisolone
4. Consider adrenaline auto-injector (EpiPen)
5. MedicAlertR bracelet and referral to allergy specialist

5. Upper airway compromise or shock :

1. Call for help: Put a pediatric crash call YES
2. Apply high flow oxygen
3. Give:
ƒ IM adrenaline 10 mcg/kg in antero lateral aspect of IMPROVING?
thigh
ƒ Treat shock with 20 mL/kg 0.9% saline
ƒ Consider nebulized adrenaline NO
 Driven by oxygen at 3–5mL of 1:1000 solution
 If the child still has stridor after the first dose of
IM adrenaline

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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After 5 minutes

Ongoing stridor
 Repeat IM adrenaline
 Repeat nebulized adrenaline
 Call ENT for artificial airway
 Consider adrenaline infusion in PICU if no response in 3 minutes

On-going shock
 Further 20mL/kg normal saline
 If no improvement after 40mL/kg of fluid, Consider intubation and
further IM adrenaline or infusion in PICU

On-going lower airway obstruction

 Consider nebulized salbutamol
 Consider IV hydrocortisone
 Consider aminophylline or salbutamol infusion

Cardiopulmonary arrest during anaphylaxis:

ƒ CPR and PALS measures
ƒ Prolonged resuscitation efforts encouraged (if necessary)
ƒ Consider:
 Transport to ICU
 High-dose epinephrine
 Rapid volume expansion
 CPR for asystole or pulseless electrical activity

Adrenaline dosage
Drug Route Dose Notes
Adrenaline IM 10mcg/kg or: IM adrenaline can be
( 1:1000 solution) <6yrs: 150mcg (0.15mL) repeated after 5 min
6–12yrs: 300mcg (0.3mL) if required
> 12yrs: 500mcg (0.5mL)
Nebulized 3–5mg (3–5mL of 1:1000 Treatment of stridor
solution)
with O2 at 10–15L/ min
Adrenaline IV or IO 10mcg/kg Only for treatment
( 1:10,000 solution) of cardiopulmonary
arrest 2ry to
anaphylaxis

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Shock
Shock is defined as inadequate perfusion and oxygenation of the body’s vital
organs
Causes of shock:
Cardiogenic ƒ Myocarditis
ƒ Cardiomyopathy
C
ƒ Dysrhythmias
ƒ Heart failure
Hypovolaemic ƒ Diarrhea /vomiting
ƒ Diuresis
H
ƒ Hemorrhage: external or internal
ƒ Burns
Obstructive ƒ Obstructed congenital heart disease (duct dependent
systemic flow e.g. severe coarctitaion ,left hypoplastic
heart syndrome ,interrupted aortic arch) O
ƒ Tension pneumothorax
ƒ Cardiac tamponade
Distributive ƒ Anaphylaxis
K
ƒ Neurogenic
(Kinetic)
ƒ Sepsisespecially gram-negative
Pathophysiology
Inadequate perfusion ĺfailure to supply oxygen and substrate to cells and
impaired removal of their waste productsĺAnaerobic metabolism and tissue
acidosis will result.
Compensated shock:
 Reduced blood flow to non-vital organs e.g. Skinĺdecreased capillary
refill (> 3 seconds) and cool peripheries. In contrast, patients with “warm”
or septic shock can present with warm skin with brisk capillary refill and
bounding pulses.
 Tachycardia (thready pulse) ĺWRPDLQWDLQFDUGLDFRXWSXW Early sign of
shock and is typically apparent well before hypotension, which is a late
feature in pediatric shock
 Tachypnea ĺWRLPSURYHR[\JHQGHOLYHU\
 Activation of renin-angiotensin system conserves water with reduction in
GFR ĺ urine output < 1 mL/kg/h (Oliguria).
 Blood pressure is maintained. There may be agitation and confusion
 Features suggesting an underlying Cause e.g. A gallop cardiac rhythm
can indicate heart failure, ongoing body fluid loss , sepsis etc….

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Decompensated shock:
ƒ Failure to treat the cause will lead to further impairing myocardial
function and anaerobic metabolism increases
ƒ The resultant reduction in blood flow to the vital organs causes:
 Reduction of conscious level — coma scale <8, only responsive to pain
 Hypotension
 Respiratory failure
 Anuria
Monitoring
Evaluation for infectious etiology:
 Sources : Blood, urine, tracheal secretions, CSF, wound, pleural fluid, or
stool
 Workups: Stains, cultures, PCR for bacteria, fungus, viruses
Evaluation of organ function
 Pulmonary: Arterial blood gases (ABG)
 Cardiac: ABG, lactate
 Liver: LFTs, coagulation studies
 Renal: BUN, creatinine, bicarbonate, serum sodium
 Hematology: CBC, Evaluation for DIC: PT, PTT, fibrinogen, D-dimer
 Extent of inflammatory state: CRP, WBC, ESR, procalcitonin
Additional studies
 Electrolytes
 Ionized calcium
 Magnesium
 Phosphate

Management of shock
Goals
The goals of initial management are to restore normal mental status, heart rate
and blood pressure, good peripheral perfusion, and adequate urine output.

Precautions
ƒ If compensated shock is suspected, treat promptly and aggressively to
prevent progression to decompensated shock.
ƒ All patients require a secure vascular access, oxygen therapy, and
cardiopulmonary monitoring. After each intervention, look for improved
vital signs, skin perfusion, and consciousness.

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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General Care: ABC

ƒ Oxygen (100% by mask or CPAP or endotracheal tube)
ƒ ,QWUDYHQRXVDFFHVVĺWZRODUJH-bore peripheral IV lines or an IO needle
ƒ Basic life support as needed
ƒ Monitoring :
 Pulse oximetry, ECG, blood pressure
 Blood glucose testing
 Monitor urine output (catheter); the goal is 1–2 mL/kg/h
1. Hypovolemic shock
 Infuse a fluid bolus of 20 mL/kg of normal saline (NS) or lactated
ringer (LR) as rapidly as possible.
 Several boluses may be required; Typically no more than 60 mL/kg
 Hemorrhagic shock may require blood (10 mL/kg) to replace ongoing
losses plus controlling external bleeding
2. Cardiogenic shock
ƒ The diagnosis is suggested by:
History of cardiomyopathy or congenital heart disease
Abnormal cardiac rhythm
Rales, gallop, or friction rub
Hepatomegaly
Chest radiographs may show cardiomegaly and pulmonary edema
ƒ Expert consultation is always mandatory
A. Myocarditis, cardiomyopathy, congenital heart disease
 An initial bolus of NS/LR may be given at volumes of 5–10 mL/kg
 Reassess frequently for signs of cardiac failure
 Inotropes (e.g. dobutamine, dopamine)
B. Brady arrhythmia with poor perfusion
ƒ Cardio pulmonary resuscitation (CPR) if heart rate < 60 /min despite
oxygen and ventilation
ƒ If persist :
 Epinephrine IV 0.01 mg/kg (0.1 ml /kg of 1:10 000)
 Atropine for increased vagal tone or heart block
C. Tachy arrhythmia with poor perfusion
ƒ Supraventricular tachycardia
 Vagal maneuvers
 IV line DYDLODEOHĺ$GHQRVLQH
 IV line unavailable or failed adenosineĺ6\QFKURQL]HG
cardioversion (0.5–1 J/kg)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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ƒ Ventricular tachycardia (with pulses)

 Stable: Amiodarone or Procainamide
 Unstable: Synchronized cardioversion (0.5–1 J/kg)
ƒ Ventricular fibrillation and pulseless ventricular tachycardia:
 Defibrillation shock 2 J/kg
Ļ
 CPR
Ļ
 Defibrillation 4 J/kg
Ļ
 CPR
Ļ
 Alternate drugs (Epinephrine, then Amiodarone) with defibrillation
3. Obstructive shock
Obstructed CHD Tension pneumothorax Cardiac tamponade
 PGE1 infusion  Needle decompression  Fluid bolus 20 ml /kg NS
 Expert consultation  Tube thoracostomy or LR
 Pericardiocentesis
4. Distributive shock
Anaphylactic: See anaphylaxis
Neurogenic
 Fluid bolus 20 ml /kg NS or LR
 Vasopressor
Septic shock
 Push repeated fluid boluses unless rales, respiratory distress or
hepatomegaly develop
 Correct hypoglycemia and hypocalcemia
 Administer first dose of antibiotic STAT
 Consider STAT vasopressor drip and stress dose of hydrocortisone
 If shock is fluid resistantĺStart vasopressors to correct perfusion:
o Normotensive ĺDopamine
o Hypotensive vasodilated (warm) shock ĺNorepinephrine
o Hypotensive vasoconstricted (cold) shock ĺEpinephrine
o Consider transfusion to hemoglobin > 10 g/dl, more fluid boluses ,
and Milrinone
(Pediatric Advanced Life Support, American Heart Association)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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 ‫‪Answers‬‬
‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‪.‬‬
‫ﺩﻋﻮﺍﺗﻜﻢ‬ ‫ﺭﻓﻌﻪ ﺩ‪ .‬ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‪.‬‬

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Growth and development

Case 1
a. Absent both tibial and femoral epiphysis ( i.e. delayed bone age)
b. Congenital hypothyroidism
c. Widely open anterior fontanel and open posterior fontanel > 1 cm
Case 2
D
In congenital adrenal hyperplasia, a deficiency of enzyme 21-hydroxylase
causes an interruption in the pathway for production of cortisol; the end
result is hypersecretion of androgenic precursors and clinical manifestations
of virilism and protein anabolism and there is rapid growth in stature, with
marked acceleration of osseous maturation. The result is early closure of
epiphyses and failure to achieve full growth
Case 3
B
A normal 3-month-old infant can raise his or her face 45° to 90° from the
horizontal. Not until 6 to 8 months of age should an infant be able to
maintain a seated position
Case 4
C
Infant feeding
Case 1
a. lactose intolerance secondary to post gastro enteritis syndrome
Clinical pointers to diagnosis:
- Persistent diarrhea
- Peri anal soreness
- Irritability with distended abdomen
b. Laboratory diagnosis
- Detect reducing substance in stool (lactose)
- Detect acidic pH of stool (lactic acid)
c. Use of lactose free milk for two weeks
Case 2
a. A humanized formula
b. Feed at 3 hours intervals, so number of feeds about 8/24 hours
c. Amount of milk required /feed
- Age in months X 10 + 100 = 120 ml
- Amount can be calculated by caloric method as well

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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d. Preparation of the formula (concentration of milk given)

i- Formula of dried powdered milks:
– One measure of 4 gm diluted by 30 mL boiled water e.g. Liptomil,
Nan, Aptamil 1.
– One measure of 8 gm diluted by 60 mL boiled water e.g. Similac,
S 26.
ii- Formula of fresh fluid animal milk: not preferred at all before 1 year
Case 3
a. Cow milk protein allergy
b. Laboratory test required
- Occult blood in stool
- A Skin prick test or radioallergosorbent test (RAST)
- Therapeutic trial of milk withdrawal is more informative
c. Use of Casein hydrolysate based formula; the best choice
N.B
o Most gastrointestinal manifestations resolve within several days
o Cow's milk in the mother's diet is the most common identifiable cause of
food-allergic reactions in nursing infants
o About 50% of infants who experience proctocolitis while nursing
improves with removal of cow's milk from the mother's diet
(Nelson textbook of pediatrics)
Case 4
1. Lactose free formula
2. Predigested formula
3. Phenylalanine low formula
4. Lactose free formula
5. Premature formula

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Nutrition
Case 1
a. Probable diagnosis; Edematous PCM (mostly Kwashiorkor)
Features suggesting diagnosis:
- Characteristic edema
- Muscle wasting
- Weight /expected weight at 10 months between 60-80% with edema
- Skin changes over buttocks
- Pallor; indicating possible anemia
- Enlarged liver
b. see textbook
Case 2
a. Dietetic Marasmus
b. Possible 4 risk factors
- Exclusive breast-feeding and delayed weaning
- Insufficient breast milk
- Being one of twin; usually have higher growth rates
- Low birth weight
Case 3
a. 3rd degree marasmus secondary to congenital heart disease; ASD
b. Congenital heart disease; ASD
c. Direct your investigations to diagnose the congenital heart disease e.g.
echocardiography ,chest x ray and ECG
d. Lines of treatment
o Consult pediatric cardiologist and nutritionist
o Medical
- Control heart failure (diuretrics, digoxin, vasodilaters).
- Dietetic treatment as before
o Interventional/Surgical
- ASD complicated with growth failure will usually require
transcatheter or open heart surgical closure when the baby reaches
suitable size for intervention
Case 4
a. Rickets complicated with hypocalcemia tetany
b. See treatment of tetany
Case 5
B
Case 6
E

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Genetics
Case 1
a. Turner syndrome
b. See textbook
Case 2
a. Down syndrome
b. Duodenal atresia and congenital acyanotic heart disease (likely
endocardial cushion defect or VSD)
c. Place a nasogastric tube and start IV fluids and electrolytes
Treatment of the congenital heart disease
Investigate for and treat jaundice
Surgical consult for a duodenostomy.
d. An echocardiogram
A karyotype
Case3
Subluxation of the atlantoaxial joint
Case4
- Likely diagnosis is Down syndrome complicated by acute leukemia (acute
myeloid leukemia or acute lymphoblastic leukemia)
- Immediate blood film with differential count for blast cells and arrange for
bone marrow examination at the first chance

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Diarrhea
Case 1
a. Diagnosis: Intussusception complicating acute gastro enteritis
b. Investigations:
Abdominal ultrasound is the gold standard to diagnose Intussusception
Other important investigations:
- Serum electrolytes
- Blood urea nitrogen and creatinine
- Stool culture
- CBC
c. Management:
Correct dehydration and electrolyte disturbances
Consult pediatric surgeon immediately

Case 2
a. Severe dehydration
b. Insert IV line ĺTake blood sample for investigations (Electrolytes /BUN/
CBC/ Blood gases) ĺPush 20 ml /kg normal saline IV and watch for
improvement of perfusion and mental status

Case 3
a. Moderate (to severe) dehydration
b. ORS is not suitable due to repeated vomiting and being tired
c. Amount of fluids required = 100 ml /kg

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Infection
Case 1
a. Pertussis ( baby was infected most likely from his mother)
b. Confirm diagnosis by nasopharyngeal swab and smear or PCR or culture
for B. Pertussis and B. Para pertussis
Case 2
Typhoid fever
Case 3
a. Typhoid fever
b. The important 4 lines of treatment including
- Keep NPO, Intravenous line and intravenous fluids (correct shock
then maintenance fluids)
- Fresh blood transfusion
- Ceftriaxone IV daily
- Surgical consultation for possible resection of involved part
(Don’t forget typhoid fever is a notifiable disease)
Case 4
a. Neonatal tetanus (tetanus neonatorum)
b. Picture (a) shows Risus Sardonicus and trismus (lock jaw) and photo(b)
shows tonic or board like rigidity and Opisthotonus
Case 5
If a child is unimmunized, or immunization is incomplete for tetanus, a dose of
the appropriate vaccine for age should be given, along with tetanus immune
globulin (TIG) if the wound is considered dirty. As this child is 5 years old,
DTaP would be the best choice according to the childhood immunization
schedule.
Case 6
o Intramuscular immune serum globulin can prevent measles if given
within 6 days of exposure
o Live vaccination is given 3 months later
Case 7
a. Rubella
b. Measures for her mum include: test immediately for Rubella antibodies
- Negative and remain negative means she escaped infection
- Positive for Rubella Ab IgG means she is immune
- Negative and turn up positive means she got the infection
(If the mother got the infection; abortion is much better than IVIG)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Case 8
a. Important 4 investigations include:
- Viral markers to exclude other causes of hepatitis ; HBV,HAV,HCV,CMV
- Heterophile antibody tests to confirm infectious mononucleosis
- Sepsis screen :Blood culture, throat swab
- Prothrombin time assesses severity of hepatitis
b. Diagnosis: Infectious mononucleosis with EBV hepatitis
Case 9
a. Erythema infectiosum
b. Parvo B19 virus
Case 10
a. Varicella
b. Varicella associated cerebellitis and cerebellar ataxia
c. Clinical recovery is typically rapid, occurring within 24-72 hr, and is usually
complete without treatment
Case 11
a. Hand Foot and Mouth disease
b. Coxachie A virus
Case 12
a. Mumps complicated with minengoencephalitis and orchitis
b. CT scan brain and ,when hemodynamically stabilized, lumbar puncture
c. Lumbar puncture likely shows evidence of viral meningitis
- Increased pressure of cerebrospinal fluid
- Increased protein
- Normal sugar
- Dominance of lymphocytes in the cell population
- No bacteria
Case 13
a. Mumps complicated with acute pancreatitis and viral myocarditis
b. Investigations are
- For myocarditis : chest x ray (cardiomegaly), ECG, and
Echocardiography
- For acute pancreatitis: serum lipase, serum calcium, lipid profile,
abdominal ultrasound and CT

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

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Neonatology
Question 1
A. Chest compressions should not be started. Positive-pressure ventilation
should continue
B. You should stop chest compressions. You should continue positive-
pressure ventilation
C. If the baby’s heart rate remains below 60 beats per minute, you should
give epinephrine while continuing chest compressions and ventilation
D. In the absence of shock or a history of acute blood loss, routine
administration of a volume expander is not recommended
E. Your team should insert an umbilical venous catheter or an intraosseous
needle. During cardiopulmonary collapse, a peripheral intravenous
catheter is unlikely to be successful and attempts at insertion may delay
appropriate therapy
Question 2
A. You can increase the room temperature, prepare a thermal mattress,
prepare a polyethylene plastic bag or wrap, and pre-warm a transport
incubator if the baby will be moved after birth

B. You should decrease the oxygen concentration

C. You should start positive-pressure ventilation

Case 3
a. Fluoroscopy of the chest
b. Phrenic nerve palsy associated with Erb’s palsy
Case 4
Fracture of right clavicle
Case 5
a. Adrenal hemorrhage (difficult breech delivery ,and possible asphyxia at
birth are risk factors in addition to bleeding tendency with prolonged
PT,PTT)
b. Emergency abdominal ultrasonography
c. Initial 4 lines of treatment after securing ABC:
- Fresh blood transfusion and follow up of hemoglobin
- Fresh plasma transfusion and follow up of PT and PTT
- Vitamin k therapy
- Phototherapy and follow up of TSB

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 273 Illustrated Baby Nelson

Case 6
a. Neonatal sepsis suggested by:
1. Risk factors: Premature Rupture of membranes 21 hours, Maternal
intrapartum fever 38.1C
2. Not doing well neonate pale and mottled respiratory distress and
lethargy
b. Chest x ray shows nonspecific coarse opacities of both lung fields more
on the right ( in the course of sepsis ;neonatal pneumonia is suggested)
c. Sepsis screen (discuss) ,blood glucose , electrolytes and blood gases
Case 7
a. There is Pneumatosis-intestinalis and thickened intestinal wall
b. NEC
c. Hold entHUDOIHHGV1*7VWDUW731ĺREWDLQVHSVLVZRUNXSĺHPSLULF
DQWLELRWLFVĺVXUJLFDOFRQVXOWVHHWUHDWPHQWIRU1(&
Case 8
a. Congenital rubella syndrome
b. Blueberry muffin rash (see CRS): this rash is not pathognomonic to CRS
;it can be seen in congenital CMV infection and severe hemolytic disease
of newborn
Case 9
a. Physiologic jaundice exaggerated with the cephalhematoma
b. Only phototherapy is required
Case 10
a. ABO incompatibility
b. Investigations
- Reticulocytic count (RC)
- Direct coombs test
- Blood film
- Serial assessment of Hb% ,TSB and RC
Case 11
a. Breast milk jaundice
b. Hold breast milk for 24-48 hours and feed formula milk(now optional)
(N.B: If there is no response and TSB continues to rise ,Criggler Najjar
syndrome should be considered and a therapeutic trial with oral
phenobarbitone should be instituted)

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 274 Illustrated Baby Nelson

Case 12
a. Diagnosis
- Acute bilirubin encephalopathy(kernicterus)
- Secondary to hemolytic disease of newborn due to ABO incompatibility
- Risk is increased by the cephalhematoma
b. Investigations
- Direct Coombs test
- Serial follow up of TSB and Hb%
- For the cephalhematoma:
ƒ Skull CT
ƒ Brain ultrasound
(To rule out intracranial hemorrhage as a cause of seizures)
- Sepsis workup (to rule out sepsis as a cause of not doing well newborn)
c. Management
- Immediate exchange transfusion
- Extensive phototherapy during waiting for and after exchange
- Serial follow up of TSB and Hb%
- IVIG
Case 13
a. The most likely diagnosis is hemorrhagic disease of newborn due to
vitamin K deficiency
b. The 3 most important lines of treatment
- Parenteral vitamin K
- Fresh plasma transfusion
- Fresh blood transfusion
Case 14
a. Swallowed maternal blood
b. Apt test for the bloody stool
Case 15
a. Severe perinatal asphyxia
b. Clinical ( via Sarnat grading), Neuro imaging and EEG
Case 16
a. Respiratory distress syndrome
b. The 3 appropriate actions
- Intubate, ventilate and give surfactant
- Request chest x ray
- Give antibiotics after sepsis workup
c. Severe RDS , white lungs

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
Page | 275 Illustrated Baby Nelson

Case 17
a. Obtain a chest film and obtain an echocardiogram
b. PDA, pneumothorax and endotracheal tube obstruction if intubated
Case 18
a. Transient tachypnea of newborn
b. The 3 important actions:
- Provide supplemental oxygen as needed
- Request sepsis workup (blood and chest x ray)
- Initiate empiric antibiotics combinations till cultures come back
negative
Case 19
See your text book

Contact me:
Address: Dr Mohamed El Koumi Pediatric Center- Abazia Mall, Central corridor-
6 October City, Giza
Mobile: 00201000089045, 00201000767047, 0096596005902 (WhatsApp)
Face book: Mohamed ElKoumi
E mail:[email protected]

.‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ .‫ ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‬.‫ﺭﻓﻌﻪ ﺩ‬

14‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‬
 ‫‪Notes‬‬

‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‪.‬‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ ‫ﺭﻓﻌﻪ ﺩ‪ .‬ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‪.‬‬

‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‪14‬‬
 ‫‪Notes‬‬

‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‪.‬‬

‫ﺩﻋﻮﺍﺗﻜﻢ‬ ‫ﺭﻓﻌﻪ ﺩ‪ .‬ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‪.‬‬

‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‪14‬‬
 ‫ﺟﻌﻠﻪ ﺍﻟﻠﻪ ﺻﺪﻗﺔ ﺟﺎﺭﻳﺔ ﻟﻲ ﻭﻟﻮﺍﻟﺪﻱ ﻭﻟﺬﺭﻳﺘﻲ‪.‬‬
‫ﺩﻋﻮﺍﺗﻜﻢ‬ ‫ﺭﻓﻌﻪ ﺩ‪ .‬ﻣﺎﺟﺪ ﺍﻟﻤﻨﺼﻮﺭ‪.‬‬

‫ﺍﻟﺪﻓﻌﺔ ﺍﻝ‪14‬‬