1.

Growth and development, growth disorders, hypopituitarism

Growth and development: There are 5 stages that are:
1) Newborn – 1st two months of life (newborns react automatically to external stimuli).
Newborns can move their head from side to side, see close-up objects, turn towards
sounds and cry to indicate a need and by 3rd month they can smile at people.
2) Infant – up to 1 year of life so at 3-5 months infants can recognise familiar faces,
begin to babble, control their head movements and bring their hands together. 6
months of age infants start sitting without support, may bounce when held in a
standing position and respond to people calling their name as well as start to
communicate with gestures. Between 9-12 months children can point at things, pick
up objects, crawl and even stand with support. They can imitate sound and gestures.
3) Toddler – between 1-3 years of age they can stand alone, learn to walk without help,
begin to run and climb stairs with short steps. They can wave bye, hold a pencil or
crayon, draw a circle, learn to say several words and even short sentences and follow
simple instructions.
4) Preschool – between 3-5 years of age children motor skills become refined. They can
throw and catch a ball, skip and hop; learn to dress themselves and draw proper
structures such as a flower. They can speak a complete, long sentence and even 2-3
sentences in a stretch easily. Toilet training they begin to go to the toilet in the
bathroom and use the facility by themselves by the age of 4 years old.
5) School age – between 6-17 years old. Children learn to become independent and
form their own opinions. Learning, speaking and writing become well established.
Children develop various emotions such as jealousy, love and many more and can
express them through words and gestures. They develop friendships and usually
make best friends at this stage. Sexual development around and after puberty makes
children interested in dating.
Normal growth is defined as measured height according to the following years:

 0 to 12 months: about 10 inches. Growth during this phase is primarily a function of

nutrition.
 1 to 2 years: about 5 inches from the age of 1, hormonal factors play an increasingly
important role in child’s growth.
 3 years to puberty: about 2 inches a year. Minimal difference in growth seen in boys
and girls until puberty that results in an average height difference of 4 to 5 inches
between the sexes.
Growth problem symptoms: the primary symptom is when a child grows less than 2 inches a
year after their second birthday. The other symptoms may include:

 Slow development of physical skills such as rolling over, sitting up, standing and
walking.
 Delayed social and mental skills.
  Delayed development of secondary sexual characteristics in adolescence.
The cause of growth problems can be the following:

 Familial short stature – child’s height is part of family’s pattern of inherited short
height.
 Familial tall stature – child’s height is part of family’s pattern of inherited tall height.
 Constitutional delay of growth and pubertal development – child tends to be a
shorter than average and to enter puberty later than average while growing at a
normal state. This may be inherited and these children tend to catch up in time and
reach their normal adult height.
 Illnesses that affect the whole body (systemic diseases) – includes constant
malnutrition, digestive tract diseases, kidney disease, heart disease, lung disease,
diabetes or chronic severe stress.
 Endocrine (hormone) diseases – growth can be affected by some conditions that
disrupt hormone. Thyroid hormone is essential for normal bone growth. The
pituitary gland at the base of the brain secretes several hormones including growth
hormone. Growth hormone deficiency can result from injuries to the pituitary gland
or brain. Results in: Cushing syndrome or Precocious puberty.
 Gigantism – children grow faster than normal if their pituitary gland makes too much
growth hormone.
 Intrauterine growth restriction (IUGR) – growth of a baby in the uterus is slowed. This
can be caused by many factors such as smoking during pregnancy or not enough
prenatal care so the baby is born smaller in weight and length than normal.
 Genetic disorders – includes Turner, Down and achrondroplasia.
Growth disorders
Cushing syndrome (hypercortisolism) where the body produces too much of the hormone
cortisol and can be caused due to an abnormality in the adrenal or pituitary glands.
Signs and symptoms – children who are still growing there is a dramatic slowing in vertical
growth but the child continues to gain weight.

 Weight gain, specifically in the mid-torso

 Vertical growth slows or stops
 Thin arms and legs compared to the rest of the body
 Stretch marks on abdomen, arms, thighs and buttocks
 Round or moon-shaped face
 Excess facial hair (hirsutism) in girls
 Menstrual changes in girls
 Acne
 Fatigue
 Precocious (early) puberty
 Diabetes
 High blood pressure (hypertension)
  High cholesterol
Diagnosis

 24hr urinary test

 Diurnal cortisol test (very low cortisol levels at midnight when sleeping in most
children but in children with Cushing’s there will be elevated cortisol levels at this
time that is similar to levels found in most children in the early morning).
 Dexamethasone suppression tests (synthetic glucorticoid medication given then
blood is drawn and tested to determine cortisol level in blood). Measures if child’s
pituitary gland is producing too much ACTH.
 Corticotropin-releasing hormone stimulation test (determine whether extra cortisol
child’s body is producing is result of a tumour in adrenal or pituitary gland).
 X-rays so produce images of bones.
 MRI
 CT scan
Treatment
Goal of treatment is to stop or remove the source of the extra cortisol in child’s body so
medications to block the excessive production of certain hormones.
Precocious puberty
Child’s body begins changing into that of an adult (puberty) too soon usually before the age
of 8 in girls and before the age of 9 in boys.
Complication of this is that it results in short height: as children may grow quickly at first and
be tall, compared with their peers. However, because their bones mature more quickly, than
normal they often stop growing earlier than usual. Therefore causes them to be shorter than
average as adults. Therefore, early treatment of precocious puberty when it occurs in very
young children can help them to grow taller than they would without treatment.
Gigantism
Very rare condition where it causes children to grow faster than normal and grow very tall.
Symptoms:

 Faster than normal growth

 Large head
 Noticeable forehead
 Jaw that juts out
 Unusual features of the face such as a broad nose
 Very large hands and feet with thick fingers and toes
 More sweating than usual
 Very large appetite
 General weakness
Cause due to too much growth hormone and in most cases due to a benign tumour
(adenoma) that grows in the pituitary gland. Rare genetic conditions such as Sotos
syndrome, Beckwith-Wiedemann syndrome and Weaver syndrome can cause gigantism.
Diagnosis

 Blood tests (measure hormone levels and other health issues).

 Oral glucose tolerance test to see how growth hormone levels change when blood
sugar level is increased.
 MRI or CT scan – look at pituitary gland.
 X-rays of skull and jaw – to check bone thickness.
Treatment
Begin as early as possible and include:

 Surgery – remove or shrink pituitary tumour.

 Radiotherapy – slow the growth of the tumour and lower the levels of growth
hormone.
 Drug therapy – control levels of growth hormones, ease symptoms and shrink
tumour.
Hypopituitarism
Short supply of one or more of the pituitary hormones that can affect any number of body’s
routine functions such as growth, blood pressure or reproduction.
Signs and symptoms:
Usually develop gradually and get worse over time. Sometimes they are subtle and may be
overlooked for months or even years. However, for some people signs and symptoms
develop suddenly. In newborns:

 Small penis
 Jaundice
 Evidence of hypoglycaemia so sluggishness, jitteriness or seizures
 Excessive amounts of urine
Older infants and children:

 Short stature and slow growth

 Weight gain that’s out of proportion to growth
 Absent or delayed puberty
 Delayed tooth development and delayed tooth eruption
 Increased thirst and urination
 Fatigue
Diagnosis
Complete medical history and physical examination along with:
  Complete blood count test and hormone levels.
 X-rays of the hand and wrist to determine bone age.
 MRI
Treatment
Growth hormone (GH) replaced with manmade growth hormone that’s is administered by
injection.
Adrenocorticotropin deficiency results in cortisol deficiency that is replaced with
glucocorticoid in pill form 2 to 3 times a day throughout the child’s life.
Thyrotropin (TSH) deficiency results in thyroid deficiency so replaced with levothyroxine that
is in pill form and taken daily.
Gonadotropin deficiency requires replacement of oestrogen or testosterone that is timed
with onset of puberty. Adolescent girls are given estrogen replacement by patch (applied
weekly or twice weekly) or pill (taken daily); progesterone is added after about two years.
These hormones mimic the way the ovaries would produce hormones and will generate a
menstrual period at the end of each cycle. After periods start, sometimes girls change their
treatment to oral contraceptive pills. Males are given testosterone replacement by an
injection every two to four weeks; by a gel applied to the shoulders, upper arms, and/or
abdomen; or by patch.
Antidiuretic hormone (ADH) or vasopressin replaced with desmopressin (DDAVP) that is
administered by tablet or inhaled through the nose.

2. Puberty and puberty disorders, hypogonadism

Puberty is when the body begins to develop and change from a child’s body into an adult
body that is capable of sexual reproduction.
There are 5 stages of puberty that are:

 Tanner stage 1 - when hormones are hard at work behind the scenes.
 Tanner stage 2 – when the first physical signs of puberty occur.
 Tanner stage 3 – the growth spurt stage.
 Tanner stage 4 – the continuation of development.
 Tanner stage 5 – the final stage.
Stages in boys:
Stage 1 – PREPUBERTAL – no visible changes experienced.
Stage 2 – PHYSICAL CHANGES BEGIN – between the ages of 9 and 14 and experience: genital
development (growth of testicles and scrotum); growth of sparse hair around their penis and
under their arms; increase in height with growing pains.
Stage 3 – PHYSICAL CHANGES SPEED UP – between the ages of 10 and 16 experience:
continued growth of their penis and testicles as well as possible ‘wet dreams’ (ejaculation at
night while they sleep); darkening, coarsening pubic hair in the shape of a triangle in their
genital area; continued increase in their height; more sweating that can lead to body odour;
vocal changes and increased muscle mass.
Stage 4 – PUBERTY HITS IN FULL STRIDE – between the ages of 11 and 16 years experience:
growth in penis size and darkening of the skin on their scrotum and testicles (red ridges on
their testicles ‘rugae’ will begin to develop); body hair growth that reaches adult levels; peak
growth spurt that averages nearly 4 inches per year; development of acnes and continued
cracking of the voice.
STAGE 5 – FINAL PHASE – puberty ends in this stage as boys finish their growth and physical
development. Many may not develop facial hair until this step in the process Pubic hair may
extend out to their thighs and some boys may have a line of hair up to their belly button.
Most boys finish growing by age of 17 but some may continue growing through their early
20s.
Precocious (early) puberty – shows signs of puberty before age of 9 may signal a pituitary
gland problem or neurological issue. Possible causes include:

 Pituitary gland ‘turning on’ hormones too early.

 Hypothyroidism (underactive thyroid gland).
 Tumour on the adrenal gland or elsewhere.
If problem is hormonal than puberty blockers can halt puberty until the time is right.
Delayed puberty – starts puberty after age 14 or isn’t progressing through puberty than
consult healthcare provider.
Stages of girls
Stage 1 – PREPUBERTAL – no visible changes experienced.
Stage 2 – PHYSICAL CHANGES BEGIN – between the ages of 8 and 13 typically experience:
breasts begin to bud and their areolas enlarge; scant pubic hair appears; height increased
about 2 ¾ inches per year.
Stage 3 – PHYSICAL CHANGES SPEED UP – between the ages of 9 and 14 so breasts continue
budding; underarm hair begins to grow and pubic hair continues to grow. Pubic hair is
coarse, curly and in shape of triangle; growth spurt of more than 3 inches per year occurs
and skin becomes oilier and acne develops.
Stage 4 – PUBERTY HITS FULL STRIDE – between the ages of 10 and 15 so breasts continue
growing and their nipples start to protrude; pubic hair is still in a triangle and there are now
too many hairs to count; growth may continue at rate of about 2 ¾ inches per year and
problems with acne may continue.
Periods typically start around age 12 (usually around the same age their mother’s and
sister’s periods began).
Stage 5 – FINAL PHASE – development typically ends in this stage as girls reach physical
adulthood. Pubic hair may extend out to their thighs and some girls may have a line of hair
up to their belly button. Most girls attain their peak height by age 16 but some may continue
growing through age 20.
Precocious (early) puberty – red flags signal unusual development in girls:

 Signs of puberty before their 8th birthday.

 Body changes that progress very quickly.
 Body changes that occur ‘out of order’ such as starting periods before developing
breasts.
 Major disconnect between pubic hair development and breast development.
Delayed puberty – puberty starts very late or doesn’t seem to be progressing through
puberty than consult healthcare provider.
Male hypogonadism
Condition where the body does not produce enough hormone that plays a key role in
masculine growth and development during puberty (testosterone) or enough sperm or both.
Symptoms
May begin during foetal development, before puberty or during adulthood.
Foetal development: if the body does not produce enough testosterone during foetal
development may result in impaired growth of external sex organs. It depends on when
hypogonadism develops and how much testosterone is present a child who is genetically
maybe born with: female genitals, genitals that are neither clearly male nor clearly female
and underdeveloped male genitals.
Puberty: delay puberty or cause incomplete or lack of normal development so can hamper
with development of muscle mass; voice deepening; growth of body and facial hair; growth
of the penis and testicles. It can cause excessive growth of the arms and legs in relation to
the trunk of the body and development of breast tissue (gynecomastia).
Causes:

Male hypogonadism means the testicles don't produce enough of the male sex hormone
testosterone. There are two basic types of hypogonadism:

 Primary. This type of hypogonadism — also known as primary testicular failure

— originates from a problem in the testicles.

 Secondary. This type of hypogonadism indicates a problem in the

hypothalamus or the pituitary gland — parts of the brain that signal the
testicles to produce testosterone. The hypothalamus produces gonadotropin-
releasing hormone, which signals the pituitary gland to make follicle-
 stimulating hormone (FSH) and luteinizing hormone (LH). Luteinizing hormone
then signals the testes to produce testosterone.

Either type of hypogonadism can be caused by an inherited (congenital) trait or something

that happens later in life (acquired), such as an injury or an infection. At times, primary and
secondary hypogonadism occur together.
Primary hypogonadism

 Klinefelter syndrome
 Undescended testicles
 Mumps orchitis
 Haemchromatosis
 Injury to testicles
 Cancer treatment
Secondary hypogonadism

 Kallmann’s syndrome
 Pituitary disorders
 Inflammatory disease
 HIV/AIDS
 Medications
 Obesity
 Aging
Diagnosis
Early detection in boys can help prevent problems from delayed puberty. Physical
examination is conducted and blood level of testosterone is carried out because
testosterone levels vary and are generally highest in the morning. If tests confirm low
testosterone than further testing can determine if a testicular disorder or a pituitary
abnormality is the cause: hormone testing; semen analysis; pituitary imaging, genetic
studies and testicular biopsy.
Treatment
Testosterone replacement to return testosterone levels to normal. This can be in the form of
oral, gel, injection, patch, gum and cheek, nasal and implantable pellets.
Female hypogonadism
Female ovaries produce little or no sex hormone.
Symptoms that may affect people AFAB include:
 lack of menstruation
 slow or absent breast growth
 milky discharge from the breasts
  hot flashes
 loss of body hair
 low or absent sex drive
 infertility
 osteoporosis

Diagnosis

Physical exam to confirm sexual development so examine muscle mass, body hair and sexual
organs. Laboratory tests such as blood test to check follicle-stimulating hormone (FSH) and
luteinising hormone (LH). Oestrogen levels tested and evaluate egg count by performing test
such as anti-mullerian hormone (AMH) test. Other additional blood tests:

 Prolactin tests – prolactin promotes breast development and breast milk production.
 Thyroid tests – check thyroid hormone levels as can cause symptoms similar to
hypogonadism.
 Iron tests – iron levels can affect sex hormones.
 Genetic tests – if suspect chromosomal irregularity such as Turner syndrome.

Ultrasound can be used to create image of the ovaries and check for any problems such as
ovarian cysts and PCOS. As well as MRIs and CT scans to check for tumours in or near
pituitary gland.

Treatment is hormone replacement but vary on type of hypogonadism. If primary

hypogonadism and true ovarian failure, need to explore alternative forms of family building.
Options include:

 egg donation

 using a gestational carrier

 adoption

If secondary hypogonadism and low FSH levels, need FSH injections. Some people will need
injections of both FSH and the hormone human choriogonadotropin (hCG) to
trigger ovulation.

Some people will also require estrogen therapy. Supplemental estrogen can be administered
via a patch or pill.

If had a hysterectomy, estrogen therapy will probably be your first line of treatment.
Because increased estrogen levels can increase your risk for endometrial cancer, be given a
combination of estrogen and progesterone if not had a hysterectomy. Progesterone can
lower your risk for endometrial cancer if you’re taking estrogen.

3. Physiological and clinical characteristics of the newborn

The neonatal period is the first 4 weeks of a child’s life. It is a time when changes are very
rapid. Many critical events can occur in this period:

 Feeding patterns are established.

 Bonding between parents and infant begin.
 The risk for infections that may become more serious are higher.
 Many birth or congenital defects are first noted.
Vital signs: Temperature: 97.7 degrees Fahrenheit or 36.4 to 37.2 degrees Celsius. Pulses:
normal 120-160 beats per min. Respiration: normal 40-60 beats per min. Blood pressure
normal range 60-70/31-45mmHg. BP is directly related to gestational age and birth weight of
the infant.
Physiology and characteristics of Newborn
Anthropometric measurements
Height: 45-55cm
Weight: 2.5-3.5kg
Head circumference: 33-35cm
Chest circumference: 31-33cm
Posture: The newborn assumes the attitude of its intrauterine life i.e. extremities flexed and
fists clenched.
Newborn skin:
At birth, the skin of a normal infant is purplish-red in colour, then within minutes the skin
pinks up. Blueness of the hands and feet is frequently, seen during the early hours of life.
Brown fat – infants who are chilled can produce body heat through stimulating the
metabolism of brown fat (a special adipose tissue in newborns located between the
scapulae, around the neck, in the axilla, behind the sternum, around the kidneys and
surrounding some of the major arteries). It is important to keep the neonate warm to avoid
excess energy expenditure. Brown fat is the infant’s last defence mechanism against
hypothermia. Immature brown adipocytes can be seen as early as 29 weeks gestation but
matures at 35th week.
Acrocyanosis is a condition that causes the hands and feet to turn blue. The main cause of
this is the constriction of the tiny arteries at the ends of the arms and legs. In newborns, it is
common in the first few hours.
Vernix caseosa – white, creamy, naturally occurring biofilm covering the skin of the foetus
during the last trimester of pregnancy. Vernix coating on the neonatal skin protects the
newborn skin and facilitates extra-uterine adaptation of skin in the first postnatal week if not
washed away after birth.
Lanugo – hair that covers the body of some newborns. This unpigmented hair is the first
type of hair that grows from hair follicles.
Jaundice – in 50% of babies become jaundiced 2 to 4 days after birth. The skin and whites of
the eyes appear yellow. This yellow colour comes from a pigment called bilirubin that is
released from the normal breakdown of RBCs. The liver removes this substance and excretes
it into the GI tract. The liver of the newborn is immature, the bilirubin builds up faster than
the liver can eliminate it. In the majority of cases however, this jaundice is temporary and
harmless.
Desquamation – lose outer layer of skin after they are born. Flaking especially around the
ankles, feet, hands and extremities.
Erythema toxicum – many babies develop blotchy red rash called erythema toxicum ‘flea
bites’ that fade by the time the baby is several weeks old.
Stork bites or Telangiectatic nevi: many new babies have red areas around their foreheads,
eyelids and noses or on the backs of their necks. They will be more visible when the baby
cries and disappear by itself during the 1st year.
Milia – ‘white heads’ or pimples that usually appear on the nose or chin. They usually
disappear by themselves in the first weeks of life.
Mongolian spot – macular blue-gray pigmentation usually on the sacral area of healthy
infants. Mongolian spot is usually present at birth or appears within the first week of life.
Mongolian spot typically, disappears spontaneously within 4 years but can persist for life.
Harlequin colour change – appears transiently, in approximately 10% of health newborns.
This distinctive phenomenon presents as a well-demarcated colour change with one half of
the body displaying erythema and the other half pallor. Usually occurs between 2 to 5 days
of age, harlequin colour change has been seen as late as three weeks of age.
Cutis marmorata – transient skin disorder in which the skin has a bluish red marbling pattern
when exposed to cold temperatures. When the skin is warmed the condition disappears.
Petechiae – small, blue-red dots on the infant’s body caused by breakage of tiny capillaries.
They may be seen on the face as a result of pressure exerted on the head during birth. True
petechiae do not blanch on pressure.
Hemangioma – ‘strawberry mark’ type of birthmark that is characterised by a dark or bright
red raised rough surface. They do not develop for several days. They may regress
spontaneously or may even increase in size. Surgical removal is not recommended. There is a
“wait-and-see’ attitude advocated before surgical removal.
Fontanelles
An infant is born with 2 major soft spots on the top of the head called fontanelles. This
allows the skull to be moulded during birth. The smaller spot at the back usually, closes by
age 2 to 3 months. The larger spot toward the front often closes around age 18 months. The
anterior fontanelle is a diamond shape and measured anywhere barely palpable to 4-5 cm at
its widest point. The posterior fontanelle is easily located by following the sagittal suture
toward the occiput. It is triangular in shape usually, measuring between 0.5 and 1cm at its
widest point. The fontanelles should be feel flat, firm and well demarcated against the bony
edges of the skull. It is normally slightly depressed and pulsates. Soft spots are covered by a
thick fibrous layer and are safe to gently touch.
Moulding – during a head first birth, pressure on the head caused by the tight birth canal
may ‘mould’ the head into an oblong rather than round shape. Newborn head moulding is a
common occurrence that usually disappears after a few days.
4. Birth injuries
Caput succedaneum – swelling of the scalp in a newborn. It occurs due to the pressure from
the uterus or vaginal wall during head-first delivery.
Clinical features –

 Soft, puffy swelling on the scalp of newborn infant

 Possible bruising or colour change on the scalp swelling area
 Swelling that may extend to both sides of the scalp
 Swelling that is most often seen on the portion of the head that presented first.
Treatment/Prognosis –
No treatment is required as the problem most often goes away on its own within a few days.
Complete recovery is expected and the scalp will go back to a normal shape.
Cephalohaematoma – build up of blood (haemorrhage) underneath the newborn’s scalp. It
appears soon after birth and the bulge is discrete but does not cross the suture lines of the
bones on their head and located at the back of the head. It may take months to go away but
the lump should get smaller and disappear without treatment.
Subconjunctival haemorrhage – when small blood vessels in sclera (white part of the eye)
burst and causes a bleed. The sclera is covered by a thin clear layer of tissue ‘bulbar
conjunctiva’. The blood that is trapped in the sclera cannot be wiped away or rinsed out so
the result of the bleed is a red patch that covers part or most of sclera. This depends on the
severity but most mild cases cause minimal discomfort and not interfere with a child’s vision.
Some severe or recurrent cases may cause permanent eye damage or point to a larger,
undiagnosed issue.
Causes: result of birth trauma from sudden increases in internal or external pressure and
can include the following:

 Difficult or prolonged labour.

 Foetal macrosomia (birth weight 8lbs, 13oz or higher).
  Misuse of forceps or vacuum extractors.
Clinical features – distinctive red patch on the sclera. Variation in the shade or size of the red
patch can indicate the level of severity with larger or darker patches indicating a more
intense bleed. The blood is reabsorbed into the skin, the affected area may turn yellow (sign
the injury is healing). In rare cases there maybe permanent eye damage or vision loss.
Diagnosis – usually through visual and blood pressure maybe monitored if hypertension is of
concern.
Treatment – There is no specific treatment as most cases clear up on their own within 2-3
weeks. However, eye drops can be prescribed to help with itchiness or discomfort as the
blood is reabsorbed and the blood vessels heal.
Brachial plexus (Erb-Duchenne) Palsy – most common neurological birth injuries. It affects
cervical nerves 5-8 and thoracic nerve 1 (upper brachial plexus). It is muscle weakness in the
arm or shoulder that occur as a result of an injury sustained during birth or later in life.
These 5 nerve allow the shoulder, arms and hands to feel and move. If the brachial plexus
nerves don’t work well due to stretching or tearing known as ‘brachial plexus palsy’.
Cause –
Occurs in newborns sometimes during a difficult vaginal childbirth or during caesarean
section. This is because during delivery the baby’s head has to move to one side to make
room for delivery of their shoulders. As the nerves are stretched this may cause damage and
even tear the nerves. It occurs in 0.9 to 2.6 per 1000 live births or nearly 12,000 cases per
year. Most common in larger infants who have to be pulled out during delivery because they
are stuck.
Clinical features – Hand muscles aren’t affected but hands may experience tingling or
numbness. Other signs include:

 Paralysis or limpness of the shoulder, arm and elbow (cannot lift arm away from the
body or bend elbow).
 Numbness or tingling in arm or hand.
 Hand position ‘waiter’s tip’ Palm of the hand points toward the back and fingers are
curled.
Diagnosis – Electromyography (EMG) – test how well muscles and nerves work. Imaging
tests such as MRI or CT combined with myelogram.
Treatment – depends on how severe the injury is. Some cases resolve by themselves within
3 to 4 months but exercises and physical therapy will help the infant to prevent stiffness in
the arm, hand and wrist. The aim is to avoid joint contracture (permanent joint stiffness).
Hydrotherapy can support to make exercise less painful. Splint may also help to prevent the
hand to curl inward and being rigid. If the palsy has not improved before 6 months then
surgery maybe recommended:
  Nerve repair – include nerve grafts, nerve transfers, neurolysis and nerve
decompression.
 Muscle repair – muscle or tendon transfer to replace the damaged tissue with tissue
from another place in the body.
Klumpke palsy – neuropathy involving the lower brachial plexus that involves the 7th, 8
cervical nerves and 1st thoracic nerve. Muscles of the forearm, wrist and hand mostly
affected as caused by birth injury to the neck and shoulder due to difficult vaginal delivery,
tumour of the lung or shoulder or trauma to the arm and shoulder. The nerves maybe
stretched or torn that causes weakness, pain or numbness.
Clinical features –

 Atrophy in muscles of the forearm or hand.

 ‘Claw hand’ a severe symptom in which the forearm lies flat but the wrists and
fingers are tightened.
 Horner’s syndrome – drooping of the eyelid on one side of the face.
 Inability to use the muscles of the affected arm and/or hand.
 Limp or paralysed arm.
 Numbness of the affected arm and/or hand
 Pain, sometimes severe.
 Stiff joints in the wrist and hand.
 Weakness of the affected arm and/or hand.
Diagnosis – usually visual examination but if further procedures are to be used then it is
EMG, x-ray, ultrasound, MRI or nerve conduction studies.
Risk factors –

 Breech birth
 Gestational diabetes (blood sugar is not well-managed so baby born larger making
delivery more difficult).
 Improper delivery/use of birthing tools (baby maybe pulled quickly and forcibly from
the birth canal that causes injury to neck and shoulder).
 Large infant/small maternal size (delivery maybe more difficult if infant larger than
normal or mother is particularly petite).
 Second stage of labour lasting over an hour (long lasting ‘pushing’ stage put infant at
a greater risk).
 Injury (trauma to arm or shoulder).
Prognosis – baby will recover within six months in severe cases where there is a tear of the
nerve away from the spine then symptoms may last for years or children can experience
lifelong disabilities of the arm, hand or fingers.
Treatment – physical therapy with exercises can help to regain range of motion. If these fail
then surgical procedures can be considered via muscle transfer, nerve graft or nerve transfer.
Recovery is very slow as it takes months to years for nerves repaired at the neck to reach the
muscles of the lower arm and hand. Therefore, will have to perform rehabilitation exercises
at home to improve the baby’s strength and range of motion.
Phrenic nerve palsy – result from birth trauma during traumatic neonatal delivery from a
stretch injury due to lateral hyperextension of the neck at birth. This can be a rare cause of
respiratory distress in newborn period with irregular respiration. This will cause
diaphragmatic paralysis ipsilateral so will require continuous positive airway pressure or
mechanical ventilation.
Clinical features – cyanosis, mottling or BRUE (sudden, brief and resolved, unexplained
episode of ≥1 of the following:
-cyanosis or pallor
-absent, decreased or irregular breathing
-marked change in tone (hyper- or hypotonia)
Altered level of responsiveness
Diagnosis – blood gas that shows hypoxia and hypercapnia; chest x-ray that shows raised
hemi-diaphragm on one side that is pronounced. If raised hemi-diaphragm is seen on chest
x-ray then ultrasound sonography should be requested to check for different causes of raised
hemi-diaphragm and for diaphragmatic hernia.
Treatment – Require invasive ventilation and intubation but few patients will recover
without intervention. If surgical intervention required then ventilatory support it to be given
until surgery.
Infant skull fracture – mild to severe and debilitating. It can be caused during delivery by the
force of instruments such as forceps or vacuum extractor. It can occur by medical error so
fractured during natural delivery with no instrument use if the child is unusually large or
presents in breech position or if the delivery was long and difficult.
Clinical features – mild fractures

 Irritability
 Sensitivity to light and sounds
 Abnormal eye movement
 Seizures
 Lethargy
 Listlessness
 Crying
 Difficulty sleeping
 Difficulty in nursing
Moderate to severe (may cause brain damage or traumatic brain injury).

 Difficulty in nursing
 Crying for no apparent reason
  Difficult to console
 Listlessness and lethargy
 Unexplained irritability
 Difficulty focusing on anything
 Seizures
Prognosis/treatment – good, most will not require treatment and will not have any long-
term complications.
Fractures of clavicle – break in collar bone and occurs due to difficult delivery or trauma at
birth. Increased risk if newborn is large in size; new-borns shoulder get stuck during delivery,
narrow birth canal or use of tools to assist with delivery.
Clinical features – fussiness or crying with movement of the affected arm due to pain in the
clavicle. Infant may not move affected arm as much as other arm or if nerves damaged than
not be able to move arm at all or may hand at infant’s side. The affected shoulder may
appear slightly lower than the uninjured shoulder. In a few weeks the healing of the bone
may cause a lump to develop at the area of the fracture that maybe felt on touch.
Diagnosis – x-ray or ultrasound image of the bone.
Treatment – fractures in newborns heal very quickly without any problems without any
treatment (maybe instructed to pin the child’s sleeve of the affected arm to the front of their
clothing to avoid moving the arm while it heals).
Extremity fractures or facial nerve palsy can also be present in newborns.
Visceral trauma of liver, spleen or adrenal gland can be suspected in macrosomic infants,
extremely premature infants, breech or vaginal delivery or infants with anaemia and shock
especially if suspected to have an intraventricular haemorrhage but with a normal head
ultrasound examination should be evaluated for hepatic or splenic rupture.
Adrenal haemorrhage – asymptomatic, infants with severe adrenal haemorrhage or may
exhibit a flank mass, jaundice and haematuria with or without shock.

5. Perinatal asphyxia
Perinatal asphyxia, also known as neonatal asphyxia or birth asphyxia, is a condition
that occurs when a baby does not receive enough oxygen (either in utero or after
delivery) This can result in damage to vital organs, including the brain, and can lead to long-
term neurological problems.
Causes:

 Placental problems, such as placental abruption or placenta previa, which can restrict
the flow of oxygen to the baby.
  Problems with the umbilical cord, such as umbilical cord prolapse or compression,
which can also limit oxygen supply.
 Maternal medical conditions, such as preeclampsia or diabetes, which can affect fetal
oxygenation.
 Inadequate oxygen delivery during delivery, which can be caused by a variety of
factors, including prolonged labor, premature rupture of membranes, or fetal
distress.
Symptoms:
1. Difficulty breathing or a weak cry immediately after birth.
2. Low heart rate or low oxygen levels.
3. Poor muscle tone or weak reflexes.
4. Seizures or other signs of neurological damage.
5. Jaundice or other signs such as multiorgan organ dysfunction. 6. Metabolic acidosis
7. Neonatal encephalopathy

Diagnosis
Criteria need to be fulfilled any of these criteria okay so according to American academy of
paediatrics.
AAP criteria
● Umbilical artery blood pH < 7.0
● 5-minute APGAR score < 3
● Neonatal encephalopathy manifesting as seizures, hypotonia or coma in immediately
in the neonatal period
● Evidence of multi-organ dysfunction
Treatment:

 Oxygen therapy to increase the amount of oxygen in the blood

 Mechanical ventilation to support breathing.
Hypothermia therapy, where the baby is cooled to reduce the risk of brain damage.
 Medications to control seizures or other symptoms.

Complications:
1. Cerebral palsy or other long-term neurological problems.
2. Developmental delays or intellectual disabilities.
3. Vision or hearing impairment.
4. Seizure disorders or epilepsy.

Prevention:
1. Prenatal care to manage maternal medical conditions and identify potential
risk factors.
2. Monitoring fetal well-being during labor and delivery.
3. Prompt delivery in cases of fetal distress.
4. Use of assisted delivery methods, such as forceps or vacuum extraction, if
necessary to avoid prolonged labor.

6. Hypoxic- ischemic encephalopathy

Type of brain dysfunction (brain injury) that occurs when the brain experiences a decrease in
oxygen or blood flow. HIE can occur before birth, during labor and delivery or after birth.
Signs and symptoms of HIE
• Decreased alertness and activity, although some babies may be more alert and react
more to stimulation than a baby without HIE
• Lack of typical reflexes
• Abnormal (not typical) movements or seizures
• Low or high muscle tone
• Breathing problems Causes HIE Causes during pregnancy
• Issues with blood flow to the placenta (an organ that develops during pregnancy that
delivers oxygen and nutrients to the baby)
• Preeclampsia (high blood pressure and associated signs/symptoms in a pregnant
person)
• Heart disease
• Problems with lung formation • Congenital (present at birth) infections • Low blood
count (anemia) in the fetus
• If the birthing parent has substance use disorder Causes during the labor and
delivery period
• Bleeding from the placenta (including abruption, or tearing, of the placenta)
• Low blood pressure in the birthing parent
• Umbilical cord problems
• Rupture of the uterus

Causes in the postnatal period

• Severe lung or heart disease
• Major infection
• Low blood pressure in the baby
• Respiratory failure or cardiac arrest (when the baby’s heart doesn’t beat normally)
HIE diagnosed
• physical exam
• blood work
• neuroimaging tests, including a head ultrasound (HUS) and magnetic resonance
imaging (MRI).
HIE treatment
Therapeutic hypothermia (also known as cooling therapy)

7. Intracranial haemorrhage in a newborn

• Infant intracranial haemorrhages (otherwise known as brain bleeds) are birth injuries
that range from minor to extremely severe.
• They can be caused by birth asphyxia (oxygen deprivation during or around the time
of birth) or birth trauma (injuries caused by excessive mechanical force to the baby’s head).
Signs and Symptoms of Intracranial Haemorrhages
Signs of brain bleeds in babies will vary based on the type and severity of the bleed, but
include: • Lethargy • Neonatal seizures • Apnea • Feeding difficulties • Irritability • Bulging
fontanelle/soft spot • Shallow or strained breathing • Abnormal tone • Altered level of
consciousness.
Risk Factors and Causes of Intracranial Haemorrhages
Common risk factors for and causes of intracranial haemorrhages in babies include:

 Macrosomia § Cephalopelvic disproportion (CPD): § Abnormal fetal presentation:

 Trauma from prolonged labour § Abnormal changes in blood pressure § Blood
disorder § Forceps and vacuum extractors § Delivery techniques § Hypoxic-ischemic
encephalopathy
Diagnosing Intracranial Haemorrhages
The best methods of detecting a brain bleed are MRIs and CT scans. § Occasionally,
ultrasonography and testing of cerebrospinal fluid is performed.
Treating Infant Intracranial Haemorrhages
Treatment of infant brain bleeds is mostly of a supportive nature, although neurosurgical
intervention may be necessary to manage certain types. § More severe bleeds can result in
mental and physical impairments such as developmental delays, learning disabilities, and
cerebral palsy (CP). § Diagnosing an intracranial haemorrhage is crucial—the earlier a baby is
diagnosed with a brain bleed, the earlier treatment and therapy can begin.

8. Respiratory distress of a new-born

Respiratory distress syndrome (RDS) occurs in babies born early (premature) whose lungs
are not fully developed. The earlier the infant is born, the more likely it is for them to have
RDS and need extra oxygen and help in breathing. RDS is caused by the baby not having
enough surfactant in the lungs. Surfactant is a liquid made in the lungs at about 26 weeks of
pregnancy. As the foetus grows, the lungs make more surfactant. Surfactant coats the tiny air
sacs in the lungs and to help keep them from collapsing the air sacs must be open to allow
oxygen to enter the blood from the lungs and carbon dioxide to be released from the blood
into the lungs. While RDS is most common in babies born early, other new-borns can get it.

Signs and symptoms:

 Fast breathing very soon after birth

 Grunting “ugh” sound with each breath
 Changes in colour of lips, fingers, and toes- cyanosis
 Widening (flaring) of the nostrils with each breath
 Chest retractions (intercostal and subcostal) - skin over the breastbone and ribs pulls in
during breathing

Those at greater risk are:

 Siblings that had RDS

 Twin or multiple births
 C-section (caesarean) delivery
 Mother that has diabetes
 Infection
 Baby that is sick at the time of delivery
 Cold, stress, or hypothermia. Baby cannot keep body temperature warm at birth.

Diagnosis is based on:

 Clinical course
 Chest radiographic findings- ground glass motting due to extensive atelectasis
 Blood gas and acid-base- shows low oxygen and excess acid in the body fluids.
 Echocardiography: To rule out heart problems that might cause symptoms like RDS.
 Assessment of severity of RDS
• Downes’s score
• Silverman-Anderson score
Laboratory findings are characterized by:
 Hypoxemia
 Hypercapnia
 Variable metabolic acidosis

Treatment:

Oxygen - Babies with RDS need extra oxygen. It may be given several ways:

 Nasal cannula: A small tube with prongs is placed in the nostrils.

 Continuous Positive Airway Pressure (CPAP): This machine gently pushes air or oxygen
into the lungs to keep the air sacs open.
 Ventilator (for severe RDS): This is a machine that helps the infant breathe when they
cannot breathe well enough without help. A breathing tube is put down the infant’s
windpipe. This is called intubation (in-too-BAY-shun). The infant is then placed on the
ventilator to help them breathe.

 Surfactant - Surfactant can be given into the baby’s lungs to replace what they do not
have. This is given directly down the breathing tube that was placed in the windpipe.
 Intravenous (IV) catheter treatments - A very small tube called a catheter, is placed into
one or two of the blood vessels in the umbilical cord. This is how the infant gets IV
fluids, nutrition, and medicines. It is also used to take blood samples.
 Phototherapy: In this test, your baby is put under a special light. This helps your baby get
rid of extra bilirubin.
 Medicines - Sometimes antibiotics are given if an infection is suspected. Calming
medicines may be given to help ease pain during treatment.

Prognosis:

With treatment, most new-borns survive. Natural production of surfactant increases after
birth. With continued production of surfactant and sometimes with breathing support and
synthetic surfactant therapy, respiratory distress syndrome usually resolves within 4 or 5
days. Without treatment that increases blood oxygen levels, new-borns may develop heart
failure and have damage to the brain or other organs or may die. Some infants who need
treatment for a long time go on to develop bronchopulmonary dysplasia .

9. Meconium aspiration syndrome

Meconium aspiration syndrome is trouble breathing (respiratory distress) in a new-born

who has breathed (aspirated) a dark green, sterile faecal material called meconium into the
lungs before or around the time of birth. Meconium is the dark green, sterile faecal material
that is produced in the intestine before birth. Meconium is usually passed after birth when
new-borns start to feed, but sometimes it is passed into the amniotic fluid before or around
the time of birth.
Meconium aspiration syndrome occurs when stress (such as infection or low oxygen
levels) causes the foetus to take forceful gasps, so that the amniotic fluid containing
meconium is breathed (aspirated) in and deposited into the lungs. After delivery, the aspirated
meconium may block the new-born’s airways and cause regions of the lungs to collapse.
Sometimes airways are only partially blocked, allowing air to reach the parts of the lung
beyond the blockage but preventing it from being breathed out. Thus, the involved lung may
become over-expanded. When a portion of the lung continues to over-expand, it can rupture
and then collapse the lung. Air may then accumulate within the chest cavity around the lung
(pneumothorax).

Symptoms:

Affected new-borns have respiratory distress, in which they breathe rapidly, draw in their
lower chest wall while breathing in, and grunt during breathing out. Their skin and/or lips
may be bluish (a condition called cyanosis) if the blood levels of oxygen are reduced. They
may also develop low blood pressure. The new-born’s umbilical cord, nail beds, or skin may
be covered in meconium, giving them a greenish yellow colour.

Diagnosis:

 Before birth, the foetal monitor may show a slow heart rate.
 At birth, meconium can be seen in the amniotic fluid. The most accurate test to check for
possible meconium aspiration involves looking for meconium staining on the vocal cords
with a laryngoscope.
 Abnormal breath sounds, especially coarse, crackly sounds, are heard through a
stethoscope.
 A blood gas analysis shows low blood acidity, decreased oxygen and increased carbon
dioxide.
 A chest x-ray may show patchy or streaky areas on the lungs.

Treatment:

 Sometimes suctioning of the airways

 Measures to support breathing
 Sometimes surfactant and antibiotics
 Treatment of any underlying disorder

Doctors always used to do suctioning whenever they saw meconium in the amniotic fluid or
in the new-born’s mouth, but this has not been shown to help. However, if the new-born’s
airway seems blocked by meconium, doctors try to suction it out.

New-borns who have trouble breathing after delivery may need to have a breathing tube
placed in their windpipe and be placed on a ventilator (a machine that helps air get in and out
of the lungs), or they may be put on continuous positive airway pressure (CPAP). CPAP
allows new-borns to breathe on their own while being given slightly pressurized air, with or
without extra oxygen, through prongs placed in the nostrils. New-borns are admitted to
the neonatal intensive care unit (NICU) if necessary.
New-borns on a ventilator may be given synthetic surfactant (a substance that coats the inside
of the air sacs and allows the air sacs of the lungs to remain open) and are observed closely
for serious complications, such as pneumothorax or persistent pulmonary hypertension of
the new-born. New-borns may be treated with antibiotics given by vein if a bacterial
infection is thought to be what caused the foetus distress before birth.

10. Reanimation of a new-born (resuscitation of neonates)

Neonatal resuscitation is a series of emergency procedures performed by a doctor to

support new-born babies who are not breathing, are gasping or have a weak heartbeat at birth.

Steps in neonatal resuscitation:

 The first 60 seconds after delivery are the most critical. The doctor will quickly
assess and start resuscitation for the baby with
 Abnormal breathing or poor cry
 Floppy baby
 Blue or pale lips and tongue
 Low heart rate (less than 100 beats/minute)

The doctor will follow the steps below and they will have about 30 seconds to achieve
a response from one step before deciding on another intervention.

Keeping the baby warm:

 Immediately after birth, the baby will be wrapped in a dry, warm towel and rubbed
gently, which may stimulate some babies to breathe.
 The baby’s back and soles of feet may be rubbed gently for five seconds to stimulate
breathing.
 The baby is dried with warmed towels or blankets to avoid lowering of body heat, which
may cause complications including death, especially in small preterm babies.

Clearing the airway:

 The doctor will clear the airway by sucking mouth secretions with a bulb syringe quickly
within five seconds.
 The doctor will remove thick meconium (if present) using a wide port tube.

Clamping and cutting the cord: If the baby is breathing adequately, then the doctor will

 Keep the baby at the same height as the placenta or below the placenta until the cord is
clamped to enhance blood transfusion.
 Clamp the cord approximately one to three minutes after birth to
minimize anaemia (low red blood cells in the blood).
 Return the baby to the mother for skin-to-skin contact to keep the baby warm.

Opening the airway for breathing: If the baby is still not breathing, to open the airways

 They will be kept on a flat surface on their back.

 Their head will be kept in a neutral position (parallel to the surface).
 A two- to three-centimetre-thick folded towel will be placed beneath their shoulders.

Keeping the baby breathing: If the baby still does not breathe with a low heart rate (less than
100 beats/minute), then the doctor will

 Place a mask over the baby’s mouth and nose, connecting it with an Ambu/ automated
artificial manual breathing unit bag.
 Provide five inflation breaths by slowly squeezing the bag.
 Provide a two- to three-second-long breath by counting out loud to allow accurate
rhythm.
 Inspect the baby’s chest movement.
 Reassess the inflation and listen to the heart rate (normal is greater than 100 beats/minute)
and check whether the baby is breathing.
 Repeat the manoeuvre if the baby is still not responding or use jaw thrust alone by
himself or with the help of another attendant to open the airway.
 Return the baby to the mother for breast feeding and skin-to-skin contact if the baby starts
breathing.
 Monitor the baby further for six hours.

Infants who continuously have a heart rate higher than 100 beats/minute and adequate
respiratory effort but who remain blue around the lips and tips should receive blow-by
oxygen aided by oxygen tubing or a mask under expert guidance.

Chest compression: Rarely, some babies may need chest compressions if the heart rate is
absent or low (less than 60 beats/minute) and not responding to being resuscitated with an
automated artificial manual breathing unit bag. Then the doctor will:

 Hold the baby’s chest with two hands while placing the thumbs below the nipples.
 Press the baby’s chest with their thumbs quickly. Another method in smaller babies is
using the index and middle fingers to gentle press over the breastbone.
 Make sure there is time for the chest to recoil.
 Provide three chest compressions to one breath with the help of an attendant.
 Continue chest compression until the baby’s heart rate get to normal.
 Check for responses by listening to the baby's heart rate every 30 seconds to one minute
and see chest movements with each breath, after each intervention.

In most cases, the above steps are enough to save a baby. Even after this if there is no
improvement, infants may require tracheal intubation if endotracheal (ET) administration of
medications is desired, congenital diaphragmatic hernia is suspected or there is a prolonged
need for assisted ventilation. Such measures are only done in a neonatal intensive care unit
(NICU) supervised by an experienced doctor. These decisions should be made by the parents
and clinician.

11. Jaundice of the new-born

Jaundice in new-borns is the yellow colouring in an infant’s skin. Jaundice occurs

when bilirubin builds up in your baby’s blood. Hyperbilirubinemia is the medical term for
this condition. Bilirubin is a yellow substance your body creates when red blood cells break
down. While you’re pregnant, your liver removes bilirubin for your baby. But after birth,
your baby’s liver must begin removing bilirubin. If your baby’s liver isn’t developed enough,
it may not be able to get rid of bilirubin. When excess bilirubin builds up, your baby’s skin
may appear yellow. Jaundice in infants is common and its usually not serious and goes away
within a couple of weeks. In rare cases, jaundice may be caused by other things, such as an
infection, a problem with the baby's digestive system, or a problem with the mom's and
baby's blood types (Rh incompatibility). Your baby may have one of these problems if
jaundice appears less than a day after birth.

Different types of jaundice in new-born:

1. Physiological jaundice
The most common type of jaundice in new-borns is physiological jaundice. This type of
jaundice is normal. Physiological jaundice develops in most new-borns by their second or
third day of life. After your baby’s liver develops, it will start to get rid of excess bilirubin.
Physiological jaundice usually isn’t serious and goes away on its own within two weeks.

2. Breastfeeding jaundice
Jaundice is more common in breastfed babies than formula-fed babies. breastfeeding jaundice
frequently occurs during your baby’s first week of life. It happens when your baby doesn’t
get enough breast milk. It can occur due to nursing difficulties or because your milk hasn’t
come in yet. Breastfeeding jaundice may take longer to go away.

3. Breast milk jaundice

Breast milk jaundice is different than breastfeeding jaundice. Substances in your breast milk
can affect how your baby’s liver breaks down bilirubin. This can cause a bilirubin build-up.
Breast milk jaundice may appear after your baby’s first week of life and may take a month or
more to disappear.

Symptoms:

A baby with jaundice has skin that looks yellow. It starts on the face, then the chest and
stomach, and then the legs. The whites of a baby's eyes also look yellow. Babies with very
high bilirubin levels may be sleepy, fussy, floppy, or have trouble feeding. Jaundice may be
hard to see, especially in babies with dark skin. If you're unsure, gently press the skin on your
baby's nose or forehead. If it's jaundice, the skin will appear yellow when you lift your finger.

Diagnosis:

Your baby's doctor will do a physical examination and ask you questions about your health
and your baby's health. For example, the doctor might ask if you and your baby have
different blood types. The doctor may place a device against your baby's skin to check your
baby's bilirubin level. A blood test for bilirubin may be done to find out if your baby needs
treatment.

Treatment:

Treatment depends on the cause of the jaundice, the bilirubin levels, and a baby's age. Mild
jaundice goes away after 1 or 2 weeks as a baby's body gets rid of the extra bilirubin on its
own. For new-borns with breastfeeding jaundice, mothers should breastfeed the baby more
often. If the baby is not getting enough breast milk, the doctor may suggest supplementing
with formula.

For more serious cases of jaundice, treatment should start as soon as possible. Babies may
get:
 Fluids. A loss of fluids (dehydration) will cause bilirubin levels to rise.
 Phototherapy. Babies lie under lights with little clothing, so their skin is exposed. The
light changes the bilirubin to a form that can easily pass out of the body. Light-therapy
blankets may also be used.
 Exchange blood transfusion: This emergency procedure is done if very high bilirubin
levels do not come down with phototherapy. The baby's blood is replaced with blood
from a donor to quickly lower bilirubin levels.
 Intravenous immunoglobulin (IVIg): Babies with blood type incompatibilities get this
through an IV (into a vein). IVIg blocks antibodies that attack red blood cells and reduces
the need for an exchange transfusion.

12. Hemolytic disease of the new-born

Homolytic disease of the new-born (HDN) is a blood problem in new-born babies. It occurs
when your baby's red blood cells break down at a fast rate. It’s also called erythroblastosis
fetalis.

 Homolytic means breaking down of red blood cells.

 Erythroblastosis means making immature red blood cells.
 Fetalis means foetus.

Causes:

HDN happens most often when a Rh-negative mother has a baby with a Rh-positive
father. If the baby's Rh factor is positive, like their father's, this can be an issue if the baby's
red blood cells cross to the Rh-negative mother. This often happens at birth when the placenta
breaks away. But it may also happen any time the mother’s and baby's blood cells mix. This
can occur during a miscarriage or fall. It may also happen during a prenatal test. These can
include amniocentesis or chorionic villus sampling. These tests use a needle to take a sample
of tissue. They may cause bleeding.

The Rh-negative mother’s immune system sees the baby's Rh positive red blood cells as
foreign. Your immune system responds by making antibodies to fight and destroy these
foreign cells. Your immune system stores these antibodies in case these foreign cells come
back again. This can happen in a future pregnancy. You are now Rh sensitized. Rh
sensitization normally isn’t a problem with a first pregnancy. Most problems occur in future
pregnancies with another Rh-positive baby. During that pregnancy, the mother's antibodies
cross the placenta to fight the Rh-positive cells in the baby's body. As the antibodies destroy
the cells, the baby gets sick. This is called erythroblastosis fetalis during pregnancy. Once the
baby is born, it’s called HDN.

Symptoms during prenatal test:

 A yellow colouring of amniotic fluid. This colour may be because of bilirubin. This is a
substance that forms as blood cells break down.
 Your baby may have a big liver, spleen, or heart. There may also be extra fluid in his or
her stomach, lungs, or scalp. These are signs of hydrops fetalis. This condition causes
severe swelling (edema).

Symptoms after birth:

 Pale-looking skin. This is from having too few red blood cells (anaemia).
 Yellow colouring of your baby’s umbilical cord, skin, and the whites of his or her eyes
(jaundice). Your baby may not look yellow right after birth. But jaundice can come on
quickly. It often starts within 24 to 36 hours.
 Your new-born may have a big liver and spleen.
 A new-born with hydrops fetalis may have severe swelling of their entire body. They may
also be very pale and have trouble breathing.

Diagnosis:

 Blood test: To look for Rh positive antibodies in your blood

 Ultrasound: to rule out enlarged organ or fluid build-up in your baby.
 Amniocentesis: To check the amount of bilirubin in the amniotic fluid
 Percutaneous umbilical cord blood sampling: It is also called foetal blood sampling and in
this test blood sample is taken from your baby’s umbilical cord to check for antibodies,
bilirubin, and anaemia. This is done to check if your baby needs an intrauterine blood
transfusion.

The following tests are used to diagnose HDN after your baby is born:

 Testing of your baby's umbilical cord. This can show your baby’s blood group, Rh factor,
red blood cell count, and antibodies.
 Testing of the baby's blood for bilirubin levels.

Treatment:

 Intrauterine blood transfusion

 Intravenous fluids
 Help with breathing
 Blood transfusions: This may be done if your baby has severe anaemia
 Phototherapy: In this test, your baby is put under a special light. This helps your baby get
rid of extra bilirubin.
 Exchange transfusion: This test removes your baby’s blood that has a high bilirubin level.
It replaces it with fresh blood that has a normal bilirubin level.
 Intravenous immunoglobulin (IVIG): IVIG is a solution made from blood plasma. It
contains antibodies to help the baby's immune system. IVIG reduces your
baby’s breakdown of red blood cells. It may also lower their bilirubin levels.
13. Bacterial infections of the new-born, sepsis, meningitis

Sepsis:

Sepsis is a serious infection that involves the spread of germs throughout the body's blood
and tissues. It can be caused by viruses, fungi, parasites, or bacteria. Some of these infectious
agents are acquired during birth, while others are picked up from the environment. As with
meningitis, the symptoms of sepsis are not specific and vary from child to child. A lower
heart rate, breathing problems, jaundice, trouble feeding, low or unstable body temperature,
lethargy, or extreme fussiness can all be signs of an infection.

How is it diagnosed and treated?

To diagnose or rule out sepsis, doctors draw blood and sometimes examine cerebrospinal
fluid and other body fluids to look for bacteria or other pathogens. They typically look for
sepsis and meningitis in the same work-up. Once a positive diagnosis is made, the child will
receive a course of antibiotics during a stay in the hospital.

 Blood culture. This is done to check for bacteria in the blood. Results take a few days, but
treatment will start right away. This is the main way sepsis is diagnosed.
 Urine culture. This checks for bacteria in the urinary system.
 Other cultures. This checks for bacteria in other places, such as in a wound.
 Blood tests. These check for signs of infection and for possible effects of sepsis on the
kidneys, liver, and blood cells.
 Lumbar puncture. This is done to check for infection of the brain and spinal cord
(meningitis). A small amount of cerebrospinal fluid is tested.
 X-rays or other imaging tests. For example, a chest X-ray is used to check for a lung
infection.

Meningitis:

Meningitis is an inflammation of the membranes surrounding the brain and spinal cord. It can
be caused by viruses, fungi, and bacteria, including Listeria, GBS, and E. coli. New-borns
can pick up one of these pathogens during birth or from their surroundings, particularly if
they have weakened immune systems that would make them more susceptible. Symptoms of
infection in new-borns aren't very specific and may include persistent crying, irritability,
sleeping more than usual, lethargy, refusing to take the breast or bottle, low or unstable body
temperature, jaundice, pallor, breathing problems, rashes, vomiting, or diarrhoea. As the
disease progresses, babies' fontanels, or soft spots, may begin to bulge.

How is it diagnosed and treated:

Meningitis, particularly bacterial meningitis, is a serious infection in new-borns. If it is

suspected, a doctor will do a lumbar puncture (also known as a spinal tap), inserting a needle
into the spine to withdraw a sample of cerebrospinal fluid. Treatment of meningitis depends
on what caused it. Infants with bacterial and fungal meningitis receive antibiotics, while viral
meningitis may be treated with antiviral medication. All infants with meningitis usually
spend time in the hospital for monitoring and intense supportive care.

14. Congenital infections

Congenital infections affect the unborn foetus or new-born infant. They are generally caused
by viruses that may be picked up by the baby at any time during the pregnancy up through the
time of delivery. The viruses initially infect the mother who subsequently may pass it to the
baby either directly through the placenta or at the time of delivery as the baby passes through
the birth canal. Mothers generally do not feel sick with the viruses. Sometimes they have flu-
like symptoms. Even if the mother is known to have a viral illness during her pregnancy, her
immune system may prevent the virus from infecting the foetus or new-born infant. The more
common viruses linked to congenital infections include the Cytomegalovirus (CMV), Herpes,
Rubella (German measles), toxoplasmosis, parvovirus B19, human immunodeficiency virus
(HIV), human papilloma virus (HPV), varicella (chickenpox), and Enteroviruses.

The risk these infections pose to an infant often depends on when the mother is exposed to
the germ. With many infections, such as rubella and toxoplasmosis, the risk is greatest in the
first trimester. If the mother becomes infected then, it can cause serious problems such as
heart disease, brain damage, deafness, visual impairment, or even miscarriage. Infection later
in the pregnancy may lead to less severe effects on the foetus but can still cause problems
with the infant's growth or development.

Symptoms: symptoms of congenital infections may be seen during or after pregnancy.

Symptoms during pregnancy:

 Blood test for both mother and baby show signs of virus
 Symptoms of the virus found in the pregnant mother
 Ultrasound test shows signs of abnormal physical condition of foetus

Symptoms after pregnancy:

 Abnormal appearance
 Enlarged abdominal organs
 Eye conditions
 Heart murmur
 Jaundice
 Large head
 Seizures
 Skin rashes
 Small head

Diagnosis and Treatment:

If a congenital infection is suspected, a thorough maternal history, including immunization
status, past and recent infections, and exposures will be obtained. A careful physical
examination of the neonate will be performed by the doctor as different clinical findings may
indicate a specific diagnosis. Evaluate for the presence of ophthalmologic, neurologic, and
other manifestations not detected on physical examination. Then doctor will run blood tests
and cultures of blood and other fluids from the infant, and sometimes the mother, to try to
make a diagnosis. Treatment often includes the antiviral or antibiotic medications that are
used to treat the diseases in older patients, as well as intense supportive care while the baby is
in the hospital. Congenital infections also call for close medical follow-up to watch for any
effects of the disease that may develop as the infant grows.

15. Child of a diabetic mother

The placenta supplies a growing foetus with nutrients and water. It also produces a variety of
hormones to maintain the pregnancy. Some of these hormones (oestrogen, cortisol, and human
placental lactogen) can block insulin. This usually begins about 20 to 24 weeks into the pregnancy.

As the placenta grows, more of these hormones are produced, and insulin resistance becomes
greater. Normally, the pancreas is able to make additional insulin to overcome insulin resistance, but
when the production of insulin is not enough to overcome the effect of the placental hormones,
gestational diabetes results. Pregnancy also may change the insulin needs of a woman with pre-
existing diabetes. Insulin-dependent mothers may require more insulin as pregnancy progresses.

Infants of diabetic mothers are prone to various neonatal adverse outcomes, including metabolic and
hematologic disorders, respiratory distress, cardiac disorders and neurologic impairment due to
perinatal asphyxia and birth traumas, among others. Macrosomia is the most constant consequence
of diabetes, and its severity is mainly influenced by maternal blood glucose level. Macrosomia is
defined by a birth weight (BW) of 4000 or 4500 g which is more than average neonatal weight.
Neonatal hypoglycemia is the main metabolic disorder that should be prevented as soon as possible
after birth. The severity of macrosomia and the maternal health condition have a strong impact on
the frequency and the severity of adverse neonatal outcomes. Transient neonatal hypocalcemia has
been mainly reported in neonates of pregestational insulin dependent- diabetic mothers and may be
partly related to maternal hypomagnesemia and subsequent fetal hypomagnesemia. The severity of
hypocalcemia also appeared to be related to the severity of maternal diabetes, as calcium
concentration in the neonates was negatively related to maternal HbA1c levels.

It has been reported that infants of diabetic mothers may have polycythemia [hematocrit (Ht) higher
than 65%]. Mechanisms evoked are reduced transplacental oxygen transport to the fetus and
increased fetal oxygen consumption due to fetal hyperinsulinism. This may lead to fetal hypoxia and
increased levels of fetal erythropoietin. It is generally recognized that, besides RDS, infants born to
diabetic mothers are exposed to increased risk of transient tachypnea of the newborn. This is more
likely to happen after caesarian section due to delayed reduction of alveolar fluid at birth and when
the infants have macrosomia. Increased risk of perinatal asphyxia has been reported in diabetic
pregnancies in a number of studies. The risks of perinatal asphyxia are increased in case of
macrosomia, particularly when there is a shoulder dystocia.

16. Neonatal convulsions, neonatal hypocalcemia, neonatal hypoglycemia

Neonatal seizures or neonatal convulsions are epileptic fits occurring from birth to the end of the
neonatal period. The neonatal period is the most vulnerable of all periods of life for developing
seizures, particularly in the first 1–2 days to the first week from birth. They may be short-lived events
lasting for a few days only. The duration of neonatal seizures is usually brief (10 s to 1–2 min) and
repetitive with a median of 8 min in between each seizure. Longer seizures and status epilepticus
develop more readily at this age, but convulsive neonatal status epilepticus is not as severe as that of
older infants and children. Neonates have immature neurons and differences in neurotransmitter
levels make them susceptible to seizures. Immature neurons contain a larger number of excitatory N-
methyl-D-aspartate and α-amino-3-hydroxy-5-methyl-4-isoxazolpropionic acid (AMPA) receptors, and
fewer gamma-aminobutyric acid (GABA) receptors.

Subtle (unspecified) seizure is the most common type of convulsion. It includes movements such as a
tremor in the eyelids; a fixed gaze in the eyes or horizontal deviation; smacking, chewing, or other
oral movements; and pedaling gestures. Autonomic findings such as tachycardia and hypotension
often accompany these findings.

Clonic seizure is defined as rhythmic contractions occurring 1 to 3 times per second in any part of the
body. The spasms may be focal, localized to a region of the body, or multifocal, and involve several
parts of the body. It is usually not accompanied by a loss of consciousness. This type of seizure can
be seen in cortical dysplasia and metabolic disorders. Electroencephalography (EEG) is usually used
to detect pathological findings.

Tonic seizure may be focal or generalized, and is usually characterized by a sudden increase in tone in
the muscle groups lasting less than one minute. Asymmetric tonic posturing is typically seen in the
trunk or neck with continuous flexion or extension of an extremity. It is often seen in cases of
intraventricular hemorrhage and hypoxic ischemic brain injury. The focal type of seizure usually
manifests EEG findings, however no generalized pattern has yet been established.

Myoclonic seizure may be focal or generalized. Focal myoclonic movements appear in the form of
rapid isolated contractions in the head or an extremity. In generalized myoclonic seizures,
contractions occur at the same time in both the arms and legs. It is differentiated from clonic seizures
by the fact that it is typically shorter in duration, has no slow phase, and may selectively involve
flexor muscle groups. Some myoclonic seizures may have pathological EEG findings.

Phenobarbital is still the first choice of initial anticonvulsant drug treatment for infants. Second
options include phenytoin, levetiracetam, benzodiazepines, and lidocaine. Phenobarbital is a long-
acting barbiturate derivative and is considered the principal drug for the treatment of neonatal
convulsions. It acts by reducing the sensitivity of GABA α receptors.

The most common non-epileptic paroxysmal movements in early period after birth are defined as
jitteriness, sleep myoclonus, and hyperreflexia.

Jitteriness is the most common type of non-epileptic paroxysmal movement. It is characterized by

quick, symmetrical vibrations that are not accompanied by autonomic findings. When the limb is
passively flexed, contractions can be stopped. There is typically no need for any additional treatment
for infants diagnosed with jitteriness.

Sleep myoclonia consists of fragmented myoclonic spikes observed during the rapid eye movement
period of sleep. Typically, it stops when the infant awakens and does not cause any change in general
condition. Infants diagnosed with sleep myoclonia generally do not require treatment.

Hyperreflexia is defined as hypertension and a very exaggerated startle response triggered by

auditory, visual, or tactile stimulation. It occurs as a result of a mutation in the α subunit of the
glycine receptor and it can be autosomal dominant. Jitteriness and sleep myoclonia do not require
treatment. However, in hyperreflexia, due to the risk of apnea, aspiration, or sudden infant death
syndrome, the initiation of clonazepam treatment and home monitoring with an apnea monitor is
recommended.
Glucose is the main energy substrate for the brain. In newborns, hypoglycemia can lead to the
situation where brain energy metabolism cannot be sustained. Hypoglycemia is difficult to define in
neonates but is generally considered a serum glucose concentration < 40 mg/dL (< 2.2 mmol/L) in
symptomatic term neonates, < 45 mg/dL (< 2.5 mmol/L) in asymptomatic term neonates between 24
hours and 48 hours of life, or < 30 mg/dL (< 1.7 mmol/L) in preterm neonates in the first 48 hours.
Risk factors include prematurity, being small for gestational age, maternal diabetes, and perinatal
asphyxia. The most common causes are deficient glycogen stores, delayed feeding, and
hyperinsulinemia. Signs include tachycardia, cyanosis, seizures, and apnea. Diagnosis is suspected
empirically and is confirmed by glucose testing. For infants presenting with clinical signs compatible
with hypoglycaemia, like apnoea, hypotonia, jitteriness, apathy, hypothermia, tremors and seizures,
treatment must ensure that blood glucose levels remain above 0.45 g/L (2.5 mmol/L). An IV bolus
dose of glucose (150-200 mg/kg) should be administered urgently, followed by a constant rate
infusion. It is necessary to check that thereafter blood glucose concentrations stabilize within normal
ranges.

Hypocalcemia is defined as total serum calcium <8 mg/dL (2 mmol/L) or ionized calcium <4.4 mg/dL
(1.1 mmol/L) for term infants or preterm infants weighing >1500 g at birth and total serum calcium
<7 mg/dL (1.75 mmol/L) or ionized calcium <4 mg/dL (1 mmol/L) for very low birth weight infants
weighing <1500 g. Risk factors for early-onset hypocalcemia include prematurity, being small for
gestational age, maternal diabetes, and perinatal asphyxia. Perinatal asphyxia may also increase
serum calcitonin, which inhibits calcium release from bone and results in hypocalcemia. In other
neonates, the normal phosphaturic renal response to parathyroid hormone is absent; the elevated
phosphate level leads to hypocalcemia. Signs include hypotonia, tachycardia, tachypnea, apnea, poor
feeding, jitteriness, tetany, and seizures. Similar symptoms may occur with hypoglycemia and opioid
withdrawal. Those term infants with levels < 7 mg/dL (1.75 mmol/L) and preterm infants with
calcium < 6 mg/dL (< 1.5 mmol/L) should be treated with 200 mg/kg of 10% calcium gluconate by
slow IV infusion over 30 minutes.

17. Hemorrhagic disease of the newborn

Hemorrhagic disease of the newborn is a life-threatening condition that is due to insufficient vitamin
K levels in newborns as a result of various causes. Proper management of the disease can help
reduce disease incidence. The etiology for vitamin K deficiency can be grouped as idiopathic or
secondary. The etiology of idiopathic causes is not known, but a few of the secondary causes have
been explored. Vitamin K deficiency leads to decreased activity of clotting factors, resulting in
hemorrhagic disease of the newborn. Adults can synthesize vitamin K in the large intestine through
the gut bacteria, but neonates have reduced stores of vitamin K due to insufficient placental transfer
and a sterile gut that fails to synthesize the necessary levels of vitamin K. Additionally, breast milk is
deficient in vitamin K and poor hepatic storage. Pre-term babies are at higher risks than full-term
babies. Early VKDB is rare and caused by maternal medications that interact with vitamin K such as
warfarin, phenytoin, or rifampicin. Physical findings in a patient with (vitamin K deficiency bleeding)
VKDB are:

 Cephalhematoma
 Intracranial bleeding
 Intrathoracic bleeding, which can cause hemoptysis, and associated respiratory distress
 Intra-abdominal bleeding- melena or hematemesis
 Bleeding from the skin- petechiae present over the skin
 Bleeding from mucous membranes, including the gums, nose, etc.
  Bleeding after circumcision
 Bleeding from the umbilical stump after cutting the umbilical cord at birth
 Bleeding from vaccination sites

Intracranial bleeding is mostly associated with late VKBD and presents with a floppy baby, lethargy,
feeding difficulties, bulging fontanelles, decreased respiratory rate, altered consciousness,
convulsions, or pallor.

Bleeding in an infant without vitamin K supplementation with elevated prothrombin time (PT) that is
corrected by vitamin K administration is typically sufficient to make the diagnosis. Confirmation, or
investigation of minor deficiency, can be performed by testing proteins produced in the absence of
vitamin K, the most established assay being for PIVKA-II. Late onset VKDB is nearly completely
prevented by early supplementation of vitamin K which is typically given to new-borns shortly after
birth. The most effective method of administration is by intramuscular injection shortly after birth,
but it can be given orally in three doses over the first month. Treatment of established bleeding
depends on the location but includes vitamin K1 (phylloquinone; phytonadione) administration
which restores the prothrombin time rapidly. Severe bleeding may require blood products such as
fresh frozen plasma (FFP), a prothrombin complex concentrate (PCC).

18. Hypertrophic stenosis of the pylorus

Pyloric stenosis, also known as infantile hypertrophic pyloric stenosis (IHPS), is an uncommon
condition in infants characterized by abnormal thickening of the pylorus muscles in the stomach
leading to gastric outlet obstruction. Clinically infants are well at birth. Then, at 3 to 6 weeks of age,
the infants present with "projectile" vomiting, potentially leading to dehydration and weight loss.

The exact aetiology of infantile hypertrophic pyloric stenosis is unknown. Some studies have shown
that young infants treated with macrolide antibiotics had an increased incidence of infantile
hypertrophic pyloric stenosis. Postnatal exposure to erythromycin has also been associated with an
increased risk for the development of pyloric stenosis. Other risk factors include bottle feeding,
preterm birth, caesarean section delivery, and first-born infants (30% to 40% of cases).

The hallmark of pyloric stenosis is marked hypertrophy and hyperplasia of both the circular and
longitudinal muscular layers of the pylorus. This thickening leads to the narrowing of the lumen of
the gastric antrum. The pyloric canal becomes lengthened. The muscles of the pylorus become
thickened. The mucosa becomes oedematous and thickened. When severe, the stomach becomes
dilated secondary to gastric outlet obstruction.

Infants with pyloric stenosis classically present with projectile, non-bilious vomiting. Vomiting may be
intermittent or occur after each feeding. Infants may show dehydration. Signs of dehydration in
infants are- depressed fontanelles, dry mucous membranes, decreased tearing, poor skin turgor, and
lethargy. The classic electrolyte imbalance of pyloric stenosis is hyperchloremic, hypokalaemia
metabolic alkalosis.

First, medical treatment is necessary and usually consists of rehydration and correction of electrolyte
imbalances. If no or mild signs of dehydration are evident, 5% dextrose with 0.25% NaCl and 2 meq
KCl per 100 mL is given. If moderate or severe, recommend higher IVF NaCl concentrations.
Bicarbonate levels should be corrected and monitored, given the impact on potential
hypoventilation. NG tube should be considered. Treatment is surgical and is called pyloromyotomy. In
this surgery, the pyloric muscle is divided down to the submucosa. The surgery can be performed
open or laparoscopically, depending on the surgeon. The operation is curative and has very low
morbidity.

19. Necrotic enterocolitis

Necrotizing enterocolitis (NEC) is a life-threatening illness almost exclusively affecting neonates. NEC
has a mortality rate as high as 50%. The pathophysiology of NEC is inflammation of the intestine
leading to bacterial invasion causing cellular damage and death which causes necrosis of the colon
and intestine. As NEC progresses, it can lead to intestinal perforation causing peritonitis, sepsis, and
death. The signs and symptoms of NEC, poor feeding, vomiting, lethargy, abdominal tenderness, are
nonspecific, so clinicians must remain suspicious when presented with these signs and symptoms in
the neonatal population.

Necrotizing enterocolitis is caused by bacterial invasion into the intestinal wall. This leads to
inflammation and cellular destruction of the wall of the intestine. If unrecognized and untreated, an
intestinal perforation may occur, causing spillage of intestinal contents into the peritoneum and
resulting in peritonitis. The specific mechanism and cause of this bacterial invasion are not yet
understood. In premature neonates, gastrointestinal tract immaturity is believed to play a role in the
pathogenesis of necrotizing enterocolitis. Necrotizing enterocolitis typically occurs in the second to
third week of life. Several risk factors have been identified, but prematurity, low birth weight, and
formula feeding have been identified as primary risks. Specifically, high osmotic strength formula
feeding has been implicated as a risk factor. The tissue of the intestinal wall in patients with
necrotizing enterocolitis shows inflammation and bacterial invasion. As the disease progresses, tissue
shows ischemia, followed by necrosis, and ultimately perforation, which may be either micro-
perforation or a frank perforation.

The single most important test required to make the diagnosis is an abdominal plain film series
including anterior-posterior and left lateral decubitus views. Findings of dilated loops of bowel,
pneumatosis intestinalis, and portal venous air is diagnostic for necrotizing enterocolitis.
Physical examination findings may include abdominal distention, abdominal tenderness to palpation,
visible intestinal loops, decreased bowel sounds, palpable abdominal mass, and erythema of the
abdominal wall. Systemic findings may include respiratory failure, circulatory collapse, and decreased
peripheral perfusion. Treatment begins with standard resuscitation based on the patient's vital signs.
Airway, breathing and circulation must be supported in a patient in extremis. Fluid resuscitation is
indicated for hypotension. In the event of respiratory failure, the patient may need endotracheal
intubation and mechanical ventilation. The first intervention when necrotizing enterocolitis is
suspected is to stop all enteral feedings. A nasogastric tube should be placed for decompression of
the dilated bowels. Intravenous antibiotics should be started, with a broad-spectrum coverage.
The suggested antibiotic regimen includes ampicillin, gentamicin, and either clindamycin or
metronidazole.

20. Characteristics of premature child

Newborns are called premature when born before 37 weeks of gestation. About 12% of all babies are
born preterm. Babies born before 28 weeks are extremely preterm, born between 28 and 34 weeks
are preterm, and babies born at 34-37 weeks are late preterm.

Premature infants have the following characteristics:

 The ability to store and regulate homeostasis is not complete: The baby is prone to
hypothermia, hypoglycemia, hypocalcemia;
 The immune system is still defective due to the lack of antibodies transmitted from the
mother, foetal infection causing premature birth, procedures causing hospital infections: the
baby is prone to pneumonia, meningitis, arthritis, sepsis.
 The respiratory system (including lungs and respiratory center) is immature, lack of
surfactant, alveoli are not fully formed, chest wall is unstable, respiratory muscles are weak.
Children are at risk have episodes of apnoea or have endocardial disease, have chronic lung
disease.
 Digestive system: Weak sucking reflex, swallowing; slow absorption of nutrients and
vulnerable digestive system; immature liver. Therefore, the baby is at risk of problems such
as aspiration, gastroesophageal reflux, functional intestinal paralysis, necrotizing
enterocolitis, premature jaundice and risk of nuclear jaundice.
 The cardiovascular system is not yet complete: The baby may still have a ductus arteriosus,
bradycardia, unstable blood pressure.
 Infants are prone to cerebral haemorrhage, cerebral palsy, apnoea, weak or unknown
sucking/swallowing reflex;
 Children are at risk of anaemia, infection, drug poisoning, dehydration or electrolyte
disturbances.
 Other problems: underdeveloped sex organs, retinopathy of premature babies, seizures,
growth retardation in height, weight.

Premature babies usually need care in a special nursery called the Neonatal Intensive Care Unit
(NICU). Children's NICU combines advanced technology and specially trained doctors and nurses to
care for the tiniest patients. Giving the mother a steroid medication at least 48 hours prior to delivery
greatly reduces the incidence and severity of respiratory disease in your baby. Another major benefit
of steroid treatment is lessening of intraventricular haemorrhage (bleeding in your baby's brain).

Care of premature babies may also include:

 Temperature-controlled beds
 Monitoring of temperature, blood pressure, heart and breathing rates and oxygen levels
 Giving extra oxygen by a mask or with a breathing machine
 Mechanical ventilators (breathing machines) to do the work of breathing for your baby.
 Intravenous (IV) fluids - when feedings cannot be given, or for medications.
 Placement of catheters (small tube) into the umbilical cord to give fluids and medications
and to draw blood.
 X-rays (for diagnosing problems and checking tube placement)
 Special feedings of breast milk or formula, sometimes with a tube into the stomach if a baby
cannot suck.
 Medications and other treatments for complications, such as antibiotics

21. Types of inheritance and hereditary diseases

Genetic disorders: these are the result of the alteration of one or more genes and may or may not be
hereditary.

Hereditary disorders: these all have a genetic origin, i.e. they are the result of the alteration of one or
more genes and are passed on through generations. Symptoms may not necessarily present
themselves from birth.

Autosomal dominant

One altered copy of the gene in each cell is sufficient for a person to be affected by an autosomal
dominant disorder. In some cases, an affected person inherits the condition from an affected parent.
In others, the condition may result from a new variant in the gene and occur in people with no
history of the disorder in their family. Marfan syndrome is caused by an abnormal gene. The affected
gene is FBN1. It helps make a protein in connective tissue called fibrillin-1. The abnormal gene
happens as follows: in about 3 out of 4 cases, the gene is inherited from a parent who is affected
whereas in about 1 out of 4 cases, the abnormal gene is from a new mutation. It is not inherited
from a parent. A child with Marfan syndrome can have many different signs and symptoms. The
syndrome can affect the heart and blood vessels, bones and joints, and eyes. Symptoms can occur a
bit differently in each child. They can include- abnormal facial appearance, eye problems, crowding
of teeth, tall and thin body, abnormally shaped chest, long arms, legs, and fingers, curved spine, flat
feet, poor healing of wounds or scars on the skin, dilation of the aortic root (the initial part of the
aorta as it arises from the left ventricle), mitral valve prolapse, pulmonary disease (such as
emphysema or spontaneous pneumothoraces).

Autosomal recessive

In autosomal recessive inheritance, variants occur in both copies of the gene in each cell. The parents
of an individual with an autosomal recessive condition each carry one copy of the altered gene, but
they typically do not show signs and symptoms of the condition. Autosomal recessive disorders are
typically not seen in every generation of an affected family. Cystic fibrosis is caused by a mutation in
the cystic fibrosis transmembrane regulator (CFTR) gene. If both parents carry the CFTR mutation,
they have a 1 in 4 chance of having a child with cystic fibrosis, and a 1 in 2 chance of having a child
who is also a carrier for the disorder. Cystic fibrosis symptoms in children will vary from one child to
another, but may include: chronic respiratory issues, such as coughing, wheezing, or difficulty
breathing; recurrent lung infections; salty tasting skin (a symptom parents often notice when kissing
a child); meconium ileus, a thick and sticky first bowel movement of a baby that can block the small
intestine; constipation; greasy, bulky and foul-smelling stools; poor growth and failure to thrive (not
gaining enough weight after birth). In addition to these more common symptoms, children with
cystic fibrosis are at greater risk for certain infections and injuries (particularly of the lungs, sinuses
and digestive system), liver disease, pancreatitis, gallstones, diabetes, heart disease and some birth
defects.

X-linked dominant

X-linked dominant disorders are caused by variants in genes on the X chromosome. In males (who
have only one X chromosome), a variant in the only copy of the gene in each cell causes the disorder.
In females (who have two X chromosomes), a variant in one of the two copies of the gene in each
cell is sufficient to cause the disorder. Females may experience less severe symptoms of the disorder
than males. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their
sons (no male-to-male transmission). Fragile X syndrome is a genetic condition that causes a range of
developmental problems including learning disabilities and cognitive impairment. Usually, males are
more severely affected by this disorder than females. Affected individuals usually have delayed
development of speech and language by age 2. Most males with fragile X syndrome have mild to
moderate intellectual disability, while about one-third of affected females are intellectually disabled.
Children with fragile X syndrome may also have anxiety and hyperactive behaviour such as fidgeting
or impulsive actions. They may have attention deficit disorder (ADD), which includes an impaired
ability to maintain attention and difficulty focusing on specific tasks. About one-third of individuals
with fragile X syndrome have features of autism spectrum disorder that affect communication and
social interaction. Characteristic physical features include- a long and narrow face, large ears, a
prominent jaw and forehead, unusually flexible fingers, flat feet, and in males, enlarged testicles
(macroorchidism) after puberty.

X-linked recessive

X-linked recessive disorders are also caused by variants in genes on the X chromosome. In males
(who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause
the condition. In females (who have two X chromosomes), a variant would have to occur in both
copies of the gene to cause the disorder. Because it is unlikely that females will have two altered
copies of this gene, males are affected by X-linked recessive disorders much more frequently than
females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked
traits to their sons (no male-to-male transmission). Haemophilia is a bleeding disorder that slows the
blood clotting process. People with this condition experience prolonged bleeding or oozing following
an injury, surgery, or having a tooth pulled. In severe cases of haemophilia, continuous bleeding
occurs after minor trauma or even when there is no obvious injury (sometimes called spontaneous
bleeding). Hemophilia A is caused by a lack of the blood clotting factor VIII. About 9 out of 10 people
with hemophilia have type A disease. Hemophilia B. This is caused by a deficiency of factor IX.
Hemophilia C, some doctors use this term to refer to a lack of clotting factor XI. Diagnosis of
haemophilia is based on your family history, your child's medical history, and a physical exam.

Y-linked

A condition is considered Y-linked if the altered gene that causes the disorder is located on the Y
chromosome, one of the two sex chromosomes in each of a male's cells. Because only males have a Y
chromosome, in Y-linked inheritance, a variant can only be passed from father to son.

Codominant

In codominant inheritance, two different versions (alleles) of a gene are expressed, and each version
makes a slightly different protein. Both alleles influence the genetic trait or determine the
characteristics of the genetic condition. Alpha-1 antitrypsin deficiency is a common hereditary
disorder characterized by reduced levels of alpha-1 antitrypsin. Alpha-1 antitrypsin is a blood protein
that is produced in the liver; its main function is to protect the lungs so they can work normally. The
clinical consequences of α-1 antitrypsin deficiency in childhood are haemorrhagic disease in infancy,
cholestasis in infancy, or chronic liver disease. Lung disease attributable to α-1 antitrypsin deficiency
does not occur in childhood, but is closely linked to smoking in adults.

Mitochondrial

Mitochondrial inheritance, also known as maternal inheritance, applies to genes in mitochondrial

DNA. Mitochondria, which are structures in each cell that convert molecules into energy, each
contain a small amount of DNA. Because only egg cells contribute mitochondria to the developing
embryo, only females can pass on mitochondrial variants to their children. Conditions resulting from
variants in mitochondrial DNA can appear in every generation of a family and can affect both males
and females, but fathers do not pass these disorders to their daughters or sons. Leber hereditary
optic neuropathy (LHON) is an optic neuropathy of mitochondrial inheritance. Childhood-onset
disease is relatively rare and there are limited data on this important patient subgroup. It starts with
a painless clouding or blurring in one or both eyes, and then worsens with a loss of sharpness and
loss of colour vision. LHON affects the central vision needed for detailed tasks such as reading and
recognizing faces. If you have LHON you might become legally blind.

22. Down Syndrome

Causes:

Down syndrome is caused by a genetic abnormality that occurs when there is an extra copy of
chromosome 21. This extra genetic material can happen in several ways. The most common cause is
trisomy 21, where there is an extra copy of chromosome 21 in every cell of the body. This happens in
about 95% of cases. In the remaining 5% of cases, Down syndrome can be caused by mosaicism or
translocation. Mosaicism occurs when only some cells in the body have an extra copy of
chromosome 21. Translocation occurs when a part of chromosome 21 breaks off and attaches to
another chromosome. The cause of these genetic variations is not fully understood, but they are not
caused by anything the mother or father did or did not do during pregnancy.

Risk factors:

The risk of having a baby with Down syndrome increases with the mother's age. Women who are 35
years old or older at the time of delivery have a higher risk of having a baby with Down syndrome.
However, the majority of babies with Down syndrome are born to women who are younger than 35,
as younger women have more pregnancies. Other risk factors include having a previous child with
Down syndrome or having a family history of the condition.

Signs and Symptoms:

The signs and symptoms of Down syndrome can vary widely among individuals, but some common
features include:

1. Physical features: Children with Down syndrome may have distinctive facial features, such as
almond-shaped eyes, a small nose, and a flat facial profile. They may also have low muscle tone,
which can cause a flatter facial expression and make it more difficult to breastfeed.

2. Delayed developmental milestones: Children with Down syndrome may experience delays in
achieving developmental milestones, such as sitting up, crawling, walking, and talking. These delays
can be caused by low muscle tone, intellectual disability, and other medical complications.

3. Intellectual disability: Almost all children with Down syndrome will have some degree of
intellectual disability. However, the severity can vary widely, and some individuals with Down
syndrome are able to lead independent lives and hold jobs.

4. Medical complications: Children with Down syndrome may be at an increased risk of certain
medical complications, such as congenital heart defects, hearing loss, vision problems,
gastrointestinal issues, and thyroid problems.

Diagnosis:

Down syndrome can be diagnosed before or after birth. Prenatal screening tests can detect the
likelihood of Down syndrome based on the mother's age and results from blood tests and ultrasound
scans. Diagnostic tests, such as chorionic villus sampling (CVS) or amniocentesis, can confirm a
diagnosis of Down syndrome by analyzing the baby's chromosomes. After birth, a diagnosis of Down
syndrome is usually based on physical features and confirmed through genetic testing.

Management:

Management of Down syndrome involves a team of healthcare professionals, including pediatricians,

geneticists, therapists, and social workers. Early intervention programs, which may include physical
therapy, occupational therapy, and speech therapy, can help children with Down syndrome reach
their developmental milestones. Special education programs can also help children with Down
syndrome achieve their full potential. Regular medical care, including check-ups and vaccinations, is
important to monitor and manage any medical complications.

Prognosis:

The prognosis for individuals with Down syndrome has improved significantly in recent years, with
many individuals living well into their 60s and 70s. However, the severity of symptoms can vary
widely, and some individuals may require ongoing support and care throughout their lives. With
appropriate support and care, many individuals with Down syndrome can lead happy and fulfilling
lives.

23. Numerical aberrations of autosomal chromosomes (Down's, Edwards', Patau's syndrome):

Numerical aberrations of autosomal chromosomes refer to changes in the number of chromosomes

in the cells of the body. Down's syndrome, Edwards' syndrome, and Patau's syndrome are all caused
by numerical aberrations of autosomal chromosomes.

Down's Syndrome:

Down's syndrome, also known as trisomy 21, is caused by an extra copy of chromosome 21. This
extra genetic material can happen in several ways. The most common cause is trisomy 21, where
there is an extra copy of chromosome 21 in every cell of the body. This happens in about 95% of
cases. In the remaining 5% of cases, Down syndrome can be caused by mosaicism or translocation.
Mosaicism occurs when only some cells in the body have an extra copy of chromosome 21.
Translocation occurs when a part of chromosome 21 breaks off and attaches to another
chromosome.

Individuals with Down's syndrome have distinctive facial features, such as almond-shaped eyes, a
small nose, and a flat facial profile. They may also have low muscle tone, intellectual disability, and
an increased risk of certain medical complications, such as congenital heart defects, hearing loss,
vision problems, gastrointestinal issues, and thyroid problems.

Edwards' Syndrome:

Edwards' syndrome, also known as trisomy 18, is caused by an extra copy of chromosome 18. This
extra genetic material can occur in several ways. In about 95% of cases, Edwards' syndrome is caused
by a random error during cell division. In the remaining 5% of cases, it can be caused by
translocation.

Individuals with Edwards' syndrome have severe intellectual disability, growth retardation, and a
range of physical abnormalities, including a small head, low-set ears, a cleft palate, clenched fists,
and clubbed feet. They also have an increased risk of medical complications, such as heart defects,
breathing difficulties, and gastrointestinal problems. Most infants with Edwards' syndrome die before
or shortly after birth.

Patau's Syndrome:

Patau's syndrome, also known as trisomy 13, is caused by an extra copy of chromosome 13. This
extra genetic material can occur in several ways. In about 80% of cases, Patau's syndrome is caused
by a random error during cell division. In the remaining 20% of cases, it can be caused by
translocation.

Individuals with Patau's syndrome have severe intellectual disability, growth retardation, and a range
of physical abnormalities, including a small head, low-set ears, a cleft palate, extra fingers or toes,
and eye abnormalities. They also have an increased risk of medical complications, such as heart
defects, breathing difficulties, and gastrointestinal problems. Most infants with Patau's syndrome die
before or shortly after birth.

Diagnosis:

Diagnosis of these conditions can be done through prenatal screening or diagnostic testing. Prenatal
screening tests can detect the likelihood of these conditions based on the mother's age and results
from blood tests and ultrasound scans. Diagnostic tests, such as chorionic villus sampling (CVS) or
amniocentesis, can confirm a diagnosis of these conditions by analyzing the baby's chromosomes.
After birth, a diagnosis of these conditions is usually based on physical features and confirmed
through genetic testing.

Management:

Management of these conditions involves a team of healthcare professionals, including pediatricians,

geneticists, therapists, and social workers. Early intervention programs, which may include physical
therapy, occupational therapy, and speech therapy, can help affected individuals reach their
developmental milestones. Special education programs can also help affected individuals achieve
their full potential. Regular medical care, including check-ups and vaccinations, is important to
monitor and manage any medical complications.

Prognosis:

The prognosis for these conditions varies depending on the severity of the physical and intellectual
disabilities and the presence of medical complications. Individuals with Down's syndrome typically
have a normal lifespan, although they may have a shorter life expectancy due to an increased risk of
medical complications. Individuals with Edwards' syndrome and Patau's syndrome have a
significantly reduced life expectancy, with many dying shortly after birth or within the first year of
life.

Prevention:

Prevention of these conditions involves genetic counselling and testing for couples who are at an
increased risk of having a child with a numerical aberration of an autosomal chromosome. Women
who are older than 35 years of age at the time of pregnancy have an increased risk of having a child
with Down's syndrome. Other risk factors include a family history of chromosomal abnormalities or a
previous pregnancy with a chromosomal abnormality. Couples can undergo genetic counselling and
testing to determine their risk of having a child with one of these conditions and discuss their
options, including prenatal diagnosis and assisted reproductive technologies.
24. Numerical aberrations of sex chromosomes (Klinefelter's, Turner's syndrome)

Numerical aberrations of sex chromosomes are genetic disorders that result from changes in the
number of sex chromosomes an individual has. The most common numerical aberrations of sex
chromosomes are Klinefelter syndrome and Turner syndrome. There are also other less common
numerical aberrations of sex chromosomes.

1. Klinefelter syndrome: Klinefelter syndrome is a condition that affects males and is caused by
having one or more extra X chromosomes. The most common karyotype for Klinefelter syndrome is
47,XXY, but other karyotypes such as 48,XXXY or 49,XXXXY can also occur. The extra X chromosome(s)
can lead to underdeveloped testes, low testosterone levels, and infertility. Other physical features
that may occur include long limbs, gynecomastia (enlarged breasts), decreased muscle mass, and
sparse body hair. Individuals with Klinefelter syndrome may also experience developmental delays,
learning disabilities, and an increased risk of certain medical conditions such as osteoporosis,
diabetes, and breast cancer.

2. Turner syndrome: Turner syndrome is a condition that affects females and is caused by having one
missing or incomplete X chromosome. The most common karyotype for Turner syndrome is 45,X, but
other karyotypes such as 45,X/46,XX or 45,X/47,XXX can also occur. Females with Turner syndrome
typically have short stature, ovarian failure leading to infertility, and may also have physical features
such as a webbed neck, a low hairline at the back of the neck, and lymphedema (swelling) of the
hands and feet. They may also have an increased risk of certain medical conditions such as heart
defects and osteoporosis.

3. Triple X syndrome: Triple X syndrome, also known as 47,XXX, is a condition that affects females and
is caused by having three X chromosomes instead of two. This condition is usually asymptomatic, but
some individuals may experience learning difficulties and an increased risk of certain medical
conditions such as infertility and autoimmune disorders.

4. XYY syndrome: XYY syndrome is a condition that affects males and is caused by having an extra Y
chromosome. The karyotype for XYY syndrome is 47,XYY. This condition is usually asymptomatic, but
some individuals may experience learning difficulties and behavioural problems.

5. 48,XXYY syndrome: 48,XXYY syndrome is a condition that affects males and is caused by having
two extra sex chromosomes, one X and one Y. Individuals with 48,XXYY syndrome may have physical
features such as tall stature, gynecomastia, and delayed puberty. They may also experience learning
disabilities, behavioral problems, and an increased risk of medical conditions such as epilepsy and
scoliosis.

6. 49,XXXXY syndrome: 49,XXXXY syndrome is a condition that affects males and is caused by having
three extra X chromosomes and one extra Y chromosome. Individuals with 49,XXXXY syndrome may
have physical features such as tall stature, low muscle tone, and delayed speech and language
development. They may also experience learning disabilities, behavioural problems, and an increased
risk of medical conditions such as seizures and kidney abnormalities.

25. Prenatal diagnosis of hereditary diseases and congenital anomalies

Prenatal diagnosis is a complex process that involves several methods for detecting hereditary
diseases and congenital anomalies in a fetus before birth. The goal of prenatal diagnosis is to provide
parents with information about their pregnancy and enable them to make informed decisions about
their future.

Ultrasound is one of the most common and widely used methods of prenatal diagnosis. It is a non-
invasive test that uses high-frequency sound waves to create images of the fetus. It can detect
structural abnormalities in the fetus, such as neural tube defects, heart defects, and limb
abnormalities. It can also detect growth abnormalities, such as intrauterine growth restriction (IUGR)
and macrosomia. Ultrasound can be performed at any stage of pregnancy, but the accuracy of the
test varies depending on the gestational age of the fetus.

Chorionic villus sampling (CVS) and amniocentesis are invasive tests that involve taking a sample of
cells from the fetus to test for chromosomal abnormalities and genetic disorders. CVS is typically
performed between 11 and 14 weeks of pregnancy, while amniocentesis is usually performed
between 15 and 20 weeks of pregnancy. Both tests carry a small risk of miscarriage, but they are
highly accurate in detecting chromosomal abnormalities such as Down syndrome, Edwards
syndrome, and Patau syndrome. They can also detect genetic disorders such as cystic fibrosis, sickle
cell anemia, and Tay-Sachs disease.

Non-invasive prenatal testing (NIPT) is a newer method of prenatal diagnosis that analyzes fetal DNA
in the mother's blood to detect chromosomal abnormalities and some genetic disorders. NIPT is
usually performed after 10 weeks of pregnancy and carries no risk of miscarriage. NIPT is highly
accurate in detecting Down syndrome and other chromosomal abnormalities, but it is less accurate
in detecting rare genetic disorders.

Percutaneous umbilical blood sampling (PUBS) is an invasive test that involves taking a sample of
fetal blood from the umbilical cord to test for chromosomal abnormalities and blood disorders. PUBS
is usually performed later in pregnancy, around 18-22 weeks. It carries a small risk of miscarriage and
fetal bleeding. PUBS is used to diagnose rare genetic disorders, such as hemophilia and sickle cell
disease.

Fetal MRI and fetal echocardiography are advanced techniques for prenatal diagnosis that can detect
abnormalities in the fetal brain, spine, heart, and other organs at a higher resolution than traditional
tests. Fetal MRI uses magnetic resonance imaging to create detailed images of the fetus. Fetal
echocardiography is an ultrasound test that focuses on the fetal heart. These tests are not widely
available and can be expensive.

Pre-implantation genetic testing (PGT) is a specialized technique used during in vitro fertilization (IVF)
to test embryos for chromosomal abnormalities and genetic disorders before they are implanted in
the uterus. PGT can reduce the risk of passing on genetic disorders to future generations, but it is not
100% accurate and does not guarantee a healthy pregnancy.

It is important to discuss the benefits and limitations of prenatal testing with a healthcare provider
and seek genetic counseling before making any decisions about prenatal diagnosis. Genetic
counseling can help parents understand the risks and benefits of testing, interpret test results, and
make informed decisions about their pregnancy. While prenatal diagnosis can detect hereditary
diseases and congenital anomalies early in pregnancy, it is not always accurate and there is a small
risk of false-positive or false-negative results. Therefore, parents should weigh the benefits and risks
of testing before making any decisions.

26. Congenital disorders of amino acid metabolism

Congenital disorders of amino acid metabolism are a group of rare genetic conditions that affect the
body's ability to process certain amino acids. Amino acids are the building blocks of proteins, and
they play an essential role in various physiological processes. When the enzymes responsible for
amino acid metabolism are deficient or absent, it can lead to the accumulation of toxic metabolites
in the body, causing various symptoms and potentially life-threatening complications.

Some common congenital disorders of amino acid metabolism include:

1. Phenylketonuria (PKU):

PKU is caused by a deficiency of the enzyme phenylalanine hydroxylase (PAH), which is responsible
for converting the amino acid phenylalanine into tyrosine. As a result, phenylalanine and its
byproducts accumulate in the body, leading to toxic effects on the brain and nervous system.
Symptoms of PKU may include intellectual disability, seizures, behavioral problems, and skin
disorders.

2. Maple syrup urine disease (MSUD):

MSUD is caused by a deficiency of one of the branched-chain alpha-keto acid dehydrogenase

enzymes, which are responsible for breaking down the branched-chain amino acids (BCAAs) leucine,
isoleucine, and valine. The accumulation of BCAAs and their toxic byproducts leads to neurological
damage and other symptoms. Symptoms of MSUD may include poor feeding, lethargy, seizures, and
a distinctive sweet smell in the urine.

3. Homocystinuria:

Homocystinuria is caused by a deficiency of enzymes involved in the metabolism of the amino acid
methionine, resulting in elevated levels of homocysteine in the blood and urine. Homocysteine can
cause damage to the eyes, bones, and blood vessels. Symptoms of homocystinuria may include
developmental delays, intellectual disability, vision problems, and skeletal abnormalities.

4. Tyrosinemia:

Tyrosinemia is caused by a deficiency of enzymes involved in the metabolism of the amino acid
tyrosine, resulting in the accumulation of toxic metabolites in the liver and other organs. This can
lead to liver damage, kidney problems, and neurological symptoms. Symptoms of tyrosinemia may
include jaundice, failure to thrive, liver failure, and intellectual disability.

5. Argininosuccinic aciduria (ASA):

ASA is caused by a deficiency of the enzyme argininosuccinate lyase, which is involved in the
breakdown of the amino acid arginine. This leads to an accumulation of toxic ammonia in the blood
and brain, causing neurological symptoms and potentially life-threatening hyperammonemia.
Symptoms of ASA may include poor feeding, vomiting, seizures, and intellectual disability.

Diagnosis of these conditions typically involves blood and urine tests to measure levels of specific
amino acids and their metabolites. Treatment may involve dietary restrictions, supplements, and
medications to manage symptoms and prevent complications. Early diagnosis and intervention are
crucial to prevent long-term damage and improve outcomes for affected individuals.

27. Congenital disorders of carbohydrate metabolism (galactosemia, glycogenesis)

Sure, here is detailed information on some of the congenital disorders of carbohydrate metabolism:

1. Galactosemia:

Galactosemia is a rare autosomal recessive disorder that affects the body's ability to metabolize
galactose, a sugar found in milk and other dairy products. The disorder is caused by a deficiency in
one of the enzymes needed to break down galactose. There are three types of galactosemia: Classic
galactosemia, clinical variant galactosemia, and biochemical variant galactosemia.

Signs and symptoms:

- Jaundice

- Poor weight gain

- Vomiting

- Diarrhea

- Lethargy

- Failure to thrive

- Developmental delays

- Cataracts

- Intellectual disability

- Speech problems

Pathophysiology:

The primary defect in galactosemia is the inability to convert galactose to glucose-1-phosphate due
to a deficiency in one of the three enzymes involved in the conversion process. This leads to the
accumulation of toxic metabolites, particularly galactitol, which can cause damage to various organs,
such as the liver, brain, and eyes.

2. Glycogen storage diseases (GSDs):

Glycogen storage diseases (GSDs) are a group of inherited metabolic disorders characterized by the
abnormal accumulation or breakdown of glycogen in the body. There are several types of GSDs, each
caused by a deficiency in a specific enzyme involved in glycogen metabolism.

Signs and symptoms:

The symptoms of GSDs vary depending on the specific type and severity of the disease. Common
symptoms include:

- Enlarged liver and spleen

- Hypoglycemia (low blood sugar)

- Muscle weakness and cramping

- Delayed growth and development

- Seizures

- Cardiomyopathy (heart disease)

- Respiratory distress

Pathophysiology:

The pathophysiology of GSDs is complex and depends on the specific type of GSD. In general, GSDs
are caused by a deficiency in one of the enzymes involved in glycogen metabolism, which results in
the abnormal accumulation or breakdown of glycogen in various tissues. The accumulation of
glycogen can cause damage to organs such as the liver, heart, and muscles.

3. Von Gierke disease (Glucose-6-phosphatase deficiency):

Von Gierke disease, also known as glucose-6-phosphatase deficiency, is an autosomal recessive

disorder characterized by the inability to convert glycogen to glucose in the liver, resulting in severe
hypoglycemia.

Signs and symptoms:

- Enlarged liver and spleen

- Hypoglycemia (low blood sugar)

- Lactic acidosis

- Hyperlipidemia (elevated blood lipids)

- Growth retardation

- Delayed puberty

- Delayed motor skills

Pathophysiology:

The primary defect in Von Gierke disease is the deficiency of glucose-6-phosphatase, which is needed
to convert glycogen to glucose in the liver. This leads to the accumulation of glycogen in the liver and
kidneys, which can cause hepatomegaly, hypoglycemia, and lactic acidosis.

4. Hereditary fructose intolerance:

Hereditary fructose intolerance is an autosomal recessive disorder characterized by the inability to

metabolize fructose, a simple sugar found in fruits, vegetables, and honey.

Signs and symptoms:

- Hypoglycemia (low blood sugar)

- Vomiting
- Abdominal pain

- Jaundice

- Liver dysfunction

- Growth retardation

Pathophysiology:

It is caused by the deficiency of the enzyme aldolase B, which is needed to metabolize fructose. This
results in the accumulation of fructose-1-phosphate in the liver, kidneys, and small intestine. The
accumulation of fructose-1-phosphate in the liver can lead to liver dysfunction and other
complications such as hypoglycemia, vomiting, and abdominal pain.

5. Pyruvate carboxylase deficiency:

Pyruvate carboxylase deficiency is a rare autosomal recessive disorder characterized by the impaired
conversion of pyruvate to oxaloacetate, a necessary step in glucose production.

Signs and symptoms:

- Hypotonia (low muscle tone)

- Seizures

- Developmental delays

- Acidosis

- Hyperammonemia (elevated blood ammonia levels)

- Poor feeding

- Respiratory distress

Pathophysiology:

Pyruvate carboxylase deficiency is caused by a deficiency in the pyruvate carboxylase enzyme, which
is involved in the conversion of pyruvate to oxaloacetate. This results in a decreased ability to
produce glucose, leading to hypoglycemia and the accumulation of lactate and pyruvate in the blood
and other tissues. The accumulation of these substances can cause acidosis, hyperammonemia, and
other complications.

28. Metabolism and disorders of water and electrolytes

Metabolism and disorders of water and electrolytes are crucial to maintaining homeostasis and
ensuring proper bodily function. Electrolytes are ions that are essential for various physiological
processes, such as maintaining proper pH levels, regulating fluid balance, and transmitting nerve
impulses. Disorders of water and electrolyte metabolism can lead to a variety of health problems,
including dehydration, hyponatremia, hypernatremia, hypokalemia, hyperkalemia, and acid-base
imbalances.

Water Metabolism:
Water metabolism is tightly regulated by the kidneys and various hormones. The kidneys play a
crucial role in maintaining water balance by filtering blood and excreting excess water in the form of
urine. The hormones that regulate water balance include antidiuretic hormone (ADH), aldosterone,
and atrial natriuretic peptide (ANP). ADH is produced by the hypothalamus and released by the
pituitary gland in response to changes in blood volume and osmolality. ADH acts on the kidneys to
increase water reabsorption, which helps to conserve water. Aldosterone is produced by the adrenal
glands and acts on the kidneys to increase sodium reabsorption and potassium excretion, which
helps to regulate fluid balance. ANP is produced by the heart and acts on the kidneys to increase
sodium and water excretion, which helps to decrease blood volume and blood pressure.

Disorders of Water Metabolism:

Dehydration is a common disorder of water metabolism that occurs when the body loses more water
than it takes in. This can be caused by a variety of factors, including excessive sweating, vomiting,
diarrhea, and inadequate fluid intake. Symptoms of dehydration include thirst, dry mouth, fatigue,
headache, and dizziness.

Electrolyte Metabolism:

Electrolytes, such as sodium, potassium, chloride, calcium, and magnesium, play a crucial role in
various physiological processes. Sodium is the primary extracellular cation and is essential for
maintaining proper fluid balance and blood pressure. Potassium is the primary intracellular cation
and is essential for nerve and muscle function. Chloride is an anion that is essential for maintaining
proper fluid balance and acid-base balance. Calcium and magnesium are cations that are essential
for bone health, muscle and nerve function, and many other physiological processes.

Disorders of Electrolyte Metabolism:

Hyponatremia is a common disorder of electrolyte metabolism that occurs when the blood sodium
level is too low. This can be caused by a variety of factors, including excessive water intake, certain
medications, and certain medical conditions. Symptoms of hyponatremia include nausea, headache,
confusion, seizures, and coma.

Hypernatremia is a disorder of electrolyte metabolism that occurs when the blood sodium level is
too high. This can be caused by a variety of factors, including dehydration, excessive sodium intake,
and certain medical conditions. Symptoms of hypernatremia include thirst, dry mouth, confusion,
seizures, and coma.

Hypokalemia is a disorder of electrolyte metabolism that occurs when the blood potassium level is
too low. This can be caused by a variety of factors, including certain medications, vomiting, diarrhea,
and kidney disease. Symptoms of hypokalemia include muscle weakness, fatigue, cramps, and
arrhythmias.

Hyperkalemia is a disorder of electrolyte metabolism that occurs when the blood potassium level is
too high. This can be caused by a variety of factors, including kidney disease, certain medications,
and certain medical conditions. Symptoms of hyperkalemia include muscle weakness, fatigue, and
arrhythmias. Acid-base imbalances, such as metabolic acidosis and metabolic alkalosis, are disorders
of electrolyte metabolism that occur when there is an imbalance in the body's acid-base balance.

These disorders can be caused by a variety of factors, including respiratory or renal dysfunction, and
can result in symptoms such as confusion, fatigue, and shortness of breath.
Treatment for disorders of water and electrolyte metabolism depends on the underlying cause of the
disorder. In the case of dehydration, treatment typically involves rehydration with fluids and
electrolytes, either orally or intravenously. In the case of electrolyte imbalances, treatment may
involve dietary modifications, medication adjustments, or intravenous electrolyte replacement
therapy. It is important to seek medical attention if you suspect you may have a disorder of water or
electrolyte metabolism, as these disorders can lead to serious health problems if left untreated.

In conclusion, maintaining proper water and electrolyte metabolism is crucial for maintaining
homeostasis and ensuring proper bodily function. Disorders of water and electrolyte metabolism can
lead to a variety of health problems, and treatment typically involves rehydration and electrolyte
replacement therapy. If you suspect you may have a disorder of water or electrolyte metabolism, it is
important to seek medical attention.

Causes and pathophysiology:

1. Dehydration: Dehydration occurs when the body loses more water than it takes in. This can be
caused by various factors, including excessive sweating, vomiting, diarrhea, and inadequate fluid
intake. The pathophysiology of dehydration involves an imbalance in fluid homeostasis, where the
body is losing more fluids than it is taking in. As a result, the blood becomes more concentrated, and
the body tries to conserve water by reducing urine output. The kidneys also release renin, which
activates the renin-angiotensin-aldosterone system (RAAS) and stimulates the release of ADH, which
increases water reabsorption in the kidneys.

2. Hyponatremia: Hyponatremia occurs when the blood sodium level is too low. This can be caused
by excessive water intake, certain medications, and certain medical conditions. The pathophysiology
of hyponatremia involves an imbalance in sodium and water balance, where there is an excess of
water relative to sodium. This leads to dilutional hyponatremia, where the low sodium concentration
in the blood leads to swelling of cells, especially in the brain. This can result in symptoms such as
nausea, headache, confusion, seizures, and coma.

3. Hypernatremia: Hypernatremia occurs when the blood sodium level is too high. This can be
caused by dehydration, excessive sodium intake, and certain medical conditions. The
pathophysiology of hypernatremia involves an imbalance in sodium and water balance, where there
is an excess of sodium relative to water. This leads to hypertonic hypernatremia, where the high
sodium concentration in the blood leads to water moving out of cells, causing them to shrink. This
can result in symptoms such as thirst, dry mouth, confusion, seizures, and coma.

4. Hypokalemia: Hypokalemia occurs when the blood potassium level is too low. This can be caused
by certain medications, vomiting, diarrhea, and kidney disease. The pathophysiology of hypokalemia
involves an imbalance in potassium homeostasis, where there is a deficiency of potassium in the
body. This can lead to decreased muscle and nerve function, resulting in symptoms such as muscle
weakness, fatigue, cramps, and arrhythmias.
5. Hyperkalemia: Hyperkalemia occurs when the blood potassium level is too high. This can be
caused by kidney disease, certain medications, and certain medical conditions. The pathophysiology
of hyperkalemia involves an imbalance in potassium homeostasis, where there is an excess of
potassium in the body. This can lead to increased muscle and nerve function, resulting in symptoms
such as muscle weakness, fatigue, and arrhythmias.

6. Acid-base imbalances: Acid-base imbalances occur when there is an imbalance in the body's acid-
base balance. Metabolic acidosis occurs when there is an excess of acid in the body, either due to
increased production or decreased elimination. This can be caused by conditions such as diabetic
ketoacidosis or kidney failure. Metabolic alkalosis occurs when there is a deficit of acid in the body,
either due to increased elimination or decreased production. This can be caused by conditions such
as excessive vomiting or the use of diuretics. The pathophysiology of acid-base imbalances involves
changes in the blood pH, which can affect various physiological processes, including enzyme activity,
oxygen binding to hemoglobin, and nerve and muscle function. This can result in symptoms such as
nausea, vomiting, confusion, muscle weakness, and seizures.

Q 29. Acid-base homeostasis and its disorders

Acid-base homeostasis is the homeostatic regulation of the pH of the body’s extracellular fluid (ECF).
The proper balance between the acids and bases in the ECF is crucial for the normal physiology of
the body and for cellular metabolism. The pH of the intracellular fluid and the extracellular fluid need
to be maintained at a constant level.

The three-dimensional structures of many extracellular proteins such as the plasma proteins and
membrane proteins of the body’s cells are very sensitive to the extracellular pH. Therefore, stringent
mechanisms exist to maintain the pH within very narrow limits. Outside the acceptable range of pH,
proteins are denatured causing enzymes and ion channels to malfunction.

The pH of the ECF including the blood plasma is normally tightly regulated between 7.32 and 7.42 by
the chemical buffers, the respiratory system and the renal system. The normal pH in the foetus
differs from that in the adult. In the foetus, the pH in the umbilical vein is normally 7.25 to 7.45 and
the umbilical artery is normally 7.18 to 7.38.

Acid-base homeostasis is maintained by multiple mechanisms involved in three lines of defences:

• Chemical- the first line of defense is immediate consisting of the various chemical buffers
which minimise pH changes. These buffers include the bicarbonate buffer system, the phosphate
buffer system and the protein buffer system.

• Respiratory component- the second line of defense is rapid consisting of the control the
carbonic acid concentration in the ECF by changing the rate and depth of breathing by
hyperventilation or hypoventilation. This blows off or retains carbon dioxide in the blood plasma as
required.

• Metabolic component- the third line of defense is slow, best measured by the base excess
and mostly depends on the renal system which can add or remove bicarbonate ions to or from the
ECF. When the pH in the ECF falls, hydrogen ions are excreted into urine, while bicarbonate ions are
secreted into blood plasma causing the plasma pH to rise. The converse happens if the pH in the ECF
rises: bicarbonate ions are then excreted into the urine and hydrogen ions into the blood plasma.
Acid-base disorders are characterised by changes in the concentration of hydrogen ions (H+) in the
body. Increased H+ concentration (acidosis) can lead to an abnormally low blood pH (acidemia) and
decreased H+ concentration (alkalosis) can lead to an abnormally high blood pH (alkalemia);
however, if compensation occurs, acidosis and/or alkalosis may be present without acidemia or
alkalemia. Acidosis and alkalosis may be respiratory or metabolic in origin depending on the cause on
the imbalance, they can also coexist as mixed acid-base disorders. Diagnosis is made based on
arterial blood gas results. In metabolic acidosis, calculation of the anion gap can also help determine
the cause and reach a precise diagnosis. In metabolic alkalosis, urine chloride (Cl-) concentration can
help identify the cause.

Causes of Acid-base balance:

Pathophysiology:

The Henderson-Hasselbalch equation allows for the calculation of pH from HCO3- and PCO2.
Diagnosis:

• Perform an initial clinical evaluation to help identify the most likely underlying cause

• Order initial laboratory studies: ABG (to assess pH, PCO2, HCO3 and oxygenation) and BMP
(to assess changes in sodium, chloride, bicarbonate, other electrolytes and renal function and to
calculate the anion gap)

• Perform further diagnostic workup (to determine the mechanism and the cause) e.g.

- In metabolic alkalosis: urinary chloride and potassium levels

- In metabolic acidosis: anion gap and delta gap

Anion gap is the difference between the concentration of measured cations and measured anions.

Delta gap is the ratio of change in anion gap to the change in bicarbonate.

Treatment

General considerations:

• Treatment of acid-base disorders should target the underlying cause

• Medications e.g. sodium bicarbonate, acetazolamide used to correct acid-base abnormalities

should be initiated in consultation with a specialist e.g. nephrologist

• Mechanical ventilation may be indicated in severe respiratory disorders and severe

metabolic acidosis
• Optimise ventilation in mechanically ventilated patients as needed

• Electrolyte imbalances should be corrected

Respiratory acidosis

• In severe respiratory acidosis, consider non-invasive or invasive mechanical ventilation

Respiratory alkalosis

• In Acute respiratory alkalosis accompanied by increased work of breathing, consider

mechanical ventilation

Metabolic acidosis

• Acute severe metabolic acidosis- consider intravenous sodium bicarbonate and mechanical
ventilation

• Chronic metabolic acidosis- consider oral sodium bicarbonate

Metabolic alkalosis

• Chloride-responsive metabolic alkalosis- start isotonic saline to increase urinary bicarbonate

excretion and correct extracellular volume loss

• Chloride-resistant metabolic alkalosis- consider bicarbonate excess as a potential cause and

administer acetazolamide (diuretic that increases the excretion of bicarbonate and potassium)

Q30. Rehydration (oral and intravenous)

Oral rehydration therapy (ORT) is a type of fluid replacement used to prevent and treat dehydration,
especially due to diarrhea. It involves drinking water with modest amounts of sugar and salts,
especially sodium and potassium. ORT can also be given by a nasogastric tube. Therapy should
routinely include the use of zinc supplements. Use of oral rehydration therapy has been estimated to
decrease the risk of death from diarrhea by up to 93%. Side effects may include vomiting, high blood
sodium or high blood pressure. If vomiting occurs, it is recommended that use be paused for 10
minutes and then gradually restarted. The recommended formulation includes sodium chloride,
sodium citrate, potassium chloride and glucose. ORT is less invasive than the other strategies for fluid
replacement, specifically intravenous fluid replacement.

Intravenous therapy is a medical technique that administers fluids, medications and nutrients directly
into a person’s vein. The intravenous route of administration is commonly used for rehydration or to
provide nutrients for those who cannot, or will not due to reduced mental states or otherwise
consume food or water by mouth. It may also be used to administer medications or other medical
therapy such as blood products or electrolytes to correct electrolyte imbalances. The intravenous
route is the fastest way to deliver medications and fluid replacement throughout the body as they
are introduced directly into the circulatory system and thus quickly distributed.

IV access is used to administer medications and fluid replacement which must be distributed
throughout the body, especially when rapid distribution is desired. Another use of IV administration
is the avoidance of first-pass metabolism in the liver. Substances that may be infused intravenously
include volume expanders, blood-based products, blood substitutes, medications and nutrition.

Q 31. Primary immunodeficiencies, tests to assess immunity.

Primary immunodeficiencies (PID) are disorders in which part of the body's immune system is
missing or does not function normally.

To be considered a primary immunodeficiency (PID), the immune deficiency must be inborn, not
caused by secondary factors such as other disease, drug treatment, or environmental exposure to
toxins. Most primary immunodeficiencies are genetic disorders; the majority are diagnosed in
children under the age of one, although milder forms may not be recognized until adulthood.

Clinical features:

• Enlarged spleen or swollen lymph nodes

• Weight loss or poor growth

• Multiple course of antibiotics needed to overcome infections

• Family history of primary immunodeficiency

• Developing problems after receiving a live vaccine

Diagnosis:

• Blood tests to identify specific immune system abnormalities

• Genetic tests to find mutations on genes

• Flow cytometry, which uses a special laser to examine samples of immune system cells

Treatment: The treatment of primary immunodeficiencies depends foremost on the nature of the
abnormality. Somatic treatment of primarily genetic defects is in its infancy. Most treatment is
therefore passive and palliative, and falls into two modalities: managing infections and boosting the
immune system.

Reduction of exposure to pathogens may be recommended, and in many situations prophylactic

antibiotics or antivirals may be advised.

In the case of humoral immune deficiency, immunoglobulin replacement therapy in the form of
intravenous immunoglobulin (IVIG) or subcutaneous immunoglobulin (SCIG) may be available.
Antibiotic prophylaxis is also commonly used to prevent respiratory tract infections in these patients.

In cases of autoimmune disorders, immunosuppression therapies like corticosteroids may be

prescribed.
For primary immunodeficiencies that are caused by genetic mutation does not exist a causal therapy
that would "repair" the mutation. Although there is a therapeutic option, gene therapy which has
been in a trial for few immune deficiencies affecting the hematopoietic system.

Q32. Allergic diseases: Urticaria, angioedema, anaphylactic shock

Urticaria is characterised by very itchy weals (hives), with or without surrounding erythematous
flares. Urticaria can be acute or chronic, spontaneous or inducible.

Acute urticaria- <6 weeks duration and often gone within 6 hours to days

Chronic urticaria >6 weeks duration, with daily or episodic weals

Urticaria can co-exist with angioedema which is a deeper swelling within the skin or mucous
membranes.

Acute urticaria can occur in newborns and infants but is uncommon. In Children, it is usually caused
by infection. In older children, food, medication and inhaled allergens are also important causes. In
adults, urticaria is usually idiopathic and spontaneous.

Causes: Acute urticaria can be induced by the following factors, but the cause is not always
identified.

• Acute viral infection — upper respiratory infection, viral hepatitis, infectious mononucleosis,
mycoplasma

• Acute bacterial infection — dental abscess, sinusitis

• Food allergy (IgE mediated)—usually milk, egg, peanut, shellfish

• Drug allergy (IgE mediated drug-induced urticaria) — often an antibiotic

• Drug-induced urticaria due to pseudoallergy — aspirin, nonselective nonsteroidal anti-

inflammatory drugs, opiates, radiocontrast media; these cause urticaria without immune activation

• Vaccination

• Bee or wasp stings

• Widespread reaction following localised contact urticaria — for example, latex

Chronic spontaneous urticaria is mainly idiopathic (cause unknown). An autoimmune cause is likely.
About half of investigated patients carry functional IgG autoantibodiesto immunoglobulin IgE or high-
affinity receptor FcεRIα.

Chronic spontaneous urticaria has also been associated with:

• Chronic underlying infection, such as Helicobacter pylori

• Chronic autoimmune diseases, such as systemic lupus erythematosus, thyroid disease,

coeliac disease, vitiligo, and others.

Weals in chronic spontaneous urticaria may be aggravated by:

• Heat
• Viral infection

• Tight clothing

• Drug pseudoallergy—aspirin, nonsteroidal anti-inflammatory drugs, opiates

• Food pseudoallergy—salicylates, azo dye food colouring agents such as tartrazine, benzoate
preservatives, and other food additives.

Clinical features: Urticarial weals can be a few millimetres or several centimetres in diameter,
coloured white or red, with or without a red flare. Each weal may last a few minutes or several hours
and may change shape. Weals may be round, or form rings, a map-like pattern, or giant patches.

Urticaria can affect any site of the body and tends to be distributed widely.

Angioedema is more often localised. It commonly affects the face (especially eyelidsand perioral
sites), hands, feet, and genitalia. It may involve tongue, uvula, soft palate, or larynx.

Serum sickness due to blood transfusion and serum sickness-like reactions due to certain drugs cause
acute urticaria leaving bruises, fever, swollen lymph glands, joint pain and swelling.

Diagnosis: Urticaria is diagnosed in people with a history of weals that last less than 24 hours with or
without angioedema. A medication and family history should be elicited. A thorough physical
examination should be undertaken.

Skin prick tests and radioallergosorbent tests (RAST) or CAP fluoroimmunoassay may be requested if
a drug, latex, or food allergy is suspected in acute urticaria.

There are no routine diagnostic tests in chronic spontaneous urticaria apart from blood count and C-
reactive protein (CBC, CRP), but investigations may be undertaken if an underlying disorder is
suspected.

The autologous serum skin test is sometimes carried out in chronic spontaneous urticaria, but its
value is uncertain. It is positive if an injection of the patient's serum under the skin causes a red weal.

Inducible urticaria is often confirmed by inducing the reaction eg, scratching the skin in
dermographism or applying an ice cube in suspected cold urticaria.

Investigations for a systemic condition or autoinflammatory disease should be undertaken in urticaria

patients with fever, joint or bone pain, and malaise. Patients with angioedema without weals should
be asked if they take ACE inhibitor drugs and tested for complement C4; C1-INH levels, function and
antibodies; and C1q.

Biopsy of urticaria can be non-specific. The pathology shows oedema in the dermisand dilated blood
vessels, with a variable mixed inflammatory infiltrate. Vessel-wall damage indicates urticarial
vasculitis.

Treatment: The main treatment of all forms of urticaria in adults and children is with an oral second-
generation H1-antihistamine such as cetirizine or loratidine. If the standard dose (eg, 10 mg for
cetirizine) is not effective, the dose can be increased up to fourfold (eg, 40 mg cetirizine daily). They
are stopped when the acute urticaria has settled down. The addition of a second antihistamine is not
thought to be helpful.

Terfenadine and astemizole should not be used, as they are cardiotoxic in combination with
ketoconazole or erythromycin. They are no longer available in New Zealand.
Although systemic treatment is best avoided during pregnancy and breastfeeding, there have been
no reports that second-generation antihistamines cause birth defects. If treatment is required,
loratadine and cetirizine are currently preferred.

Conventional first-generation antihistamines such as promethazine or chlorpheniramine are no

longer recommended for urticaria.

Avoidance of trigger factors

Identified triggers should be eliminated if possible (eg, drug or food allergy). Avoidance of relevant
type 1 (IgE-mediated) allergens clears urticaria within 48 hours.

• Treat identified chronic infections such as H. pylori.

• Avoid aspirin, opiates and nonsteroidal anti-inflammatory drugs (paracetamol is generally

safe).

• Minimise dietary pseudoallergens for a trial period of at least three weeks.

• Avoid known allergens that have been confirmed by positive specific IgE/skin prick tests if
these have clinical relevance for urticaria.

Angioedema is a self-limited, localised swelling of the dermis, subcutaneous tissues, and/or

submucosal tissues caused by fluid leakage into the interstitial tissue. It is mediated by vasoactive
substances and can be classified as histamine-mediated (secondary to allergic reactions and NSAIDs),
bradykinin-mediated (due to ACE inhibitor use or enzyme deficiencies) or unknown (idiopathic).
Patients usually present with swelling of the eyelids, lips and tongue. However, life-threatening
laryngeal edema may occur which requires immediate airway protection. Treatment generally
consists of aggressive supportive care and avoidance of triggers, if applicable. In acute cases,
histamine-mediated angioedema is treated with systemic glucocorticoids, antihistamines, and if
necessary, epinephrine for anaphylaxis. Bradykinin-mediated angioedema is treated with C1 inhibitor
concentrate, bradykinin-B2 receptor antagonists or kallikrein inhibitors.
Anaphylactic shock results from severe allergic reaction. It causes blood pressure to drop and
narrows your airway, making breathing difficult. It is an acute, potentially life-threatening, type 1
hypersensitivity reaction, involving the sudden IgE-mediated release of histamine mediators from
mast cells and basophils in response to a trigger (e.g. food, insect stings, medication). Typical signs
and symptoms include acute onset of urticarial rash, angioedema, stridor, dyspnea, bronchospasm,
circulatory failure, vomiting and diarrhoea. The diagnosis is clinical and is based on combinations of
typical symptoms, plus the presence of a known or suspected trigger. Rapid recognition and
treatment are key to prevent death from airway loss, respiratory failure, or cardiovascular collapse.
Management consists of initial resuscitation measures that focus on administering IM epinephrine,
removing triggers, securing the airway, and giving IV fluid.

Q 33. Atopic dermatitis

Atopic dermatitis (AD) is an inflammatory skin disease that typically manifests for the first time in
early childhood. Although it often improves during adolescence, it may also become a chronic
condition that extends into adulthood. Atopic dermatitis is often associated with other atopic
diseases, such as asthma or allergic rhinitis.

Etiology- Although the underlying etiology is not completely understood, genetic components, as
well as exogenous and endogenous triggers, are believed to play a role.

• Genetic risk factors:

- Approx. 70% of affected individuals have a family history of atopy e.g. eczema, asthma
and/or allergies

- Loss of function mutations in the FLG gene lead to a deficiency of filaggrin, an epidermal
protein that plays a role in the skin’s barrier function

• Social and environmental risk factors:

- Low microbial exposure in early childhood

- Living in an urban setting

- Living in a region with low UV-light expsoure

• Triggers

- Dust mites

- Heat

- Extremely dry or humid climate

- Stress

- Skin irritation

- Air pollutants e.g. benzene, nitrogen oxide, carbon monoxide

- Pollen
- Fur from pets or other animals

Clinical features-

• Main symptoms: intense pruritus and dry skin

• Infantile AD (age <2 years)- eczema involving the face, head and extensor surfaces of the
extremities that usually spares the diaper area. Dennie-Morgan fold- increased folds below the eye.

• Childhood AD (age 2-12 years)- eczema: flexural creases (antecubital fossa and popliteal
fossa), skin folds, extensor surface of hands. Lesions usually become lichenified (thickening of the
skin)

• Adult/adolescent AD (age >12 years)- Lichenified lesions and pruritis of flexor surfaces of the
extremities (wrist, elbows). Antecubital fossa are frequently involved.

• Associated skin findings in AD-

 Atopic triad: a triad of asthma, allergic rhinitis and atopic dermatitis that is linked to allergen-
triggered IgE mast cell activation

 Food allergies

 Keratosis pilaris: keratinised hair follicles typically distributed over extensor arms and thighs

 Dermatographism: formation of urticaria after minor pressure is applied to the skin, likely
mediated by local histamine release

 Hertoghe sign: thinning or loss of the outer third of the eyebrows

Diagnosis:

• Required for diagnosis- pruritus (sensation of itchiness), eczema

• Additional findings- personal and/or family history

• Immunoglobulin E reactivity

• Co-morbid atopic diseases (i.e. asthma, allergic rhinitis, allergic conjunctivitis and food
allergies)

Differential diagnosis

• Seborrheic dermatitis: lesions are usually dry in atopic dermatitis and greasy in seborrheic
dermatitis
• Psoriasis: onset is generally after adolescence. Lesions are typically covered with white or
silvery scales and are commonly located on the extensor surface of extremities

• Other eczematous diseases- e.g. allergic contact eczema

• Infections and infestations: Mycoses, scabies

• Other- photosensitivity and cutaneous T-cell lymphoma

Treatment:

Q 34. Chronic granulomatous disease and disorders of phagocyte function

Phagocytes (from the Greek, phagein, “to eat”) are white blood cells that can surround and ingest
microorganisms into tiny compartments in the cell. These compartments, called phagosomes, are
filled with chemicals that help kill bacteria and fungi. These chemicals include hydrogen peroxide and
bleach, which are made in these compartments and reach high levels there. There are two main
types of phagocytes, neutrophils and monocytes. They crawl out of blood vessels and head directly
for where there is infection. When they get to the infection site, they seek out the bacteria or fungus
and ingest it into the phagosomes. Then the normal phagocyte pumps hydrogen peroxide, bleach
and other toxins into the compartment to kill the infecting organism.

CGD phagocytes go normally to sites of infection, where they ingest infecting microbes. However,
they cannot make the hydrogen peroxide and bleach that normal cells do because they are missing
key proteins that help generate the bleach. It is very remarkable that the phagocytes of patients with
CGD can defend against most infections, but not all. Patients with CGD have normal immunity to
most viruses and some bacteria and fungi, which is why they are not infected all the time. They may
go months to years without infections and then have a severe one. Patients with CGD make normal
antibodies, so unlike patients with lymphocyte problems, patients with CGD are not particularly
susceptible to viruses.

Clinical presentation- Children with CGD are usually healthy at birth. The most common CGD
infection in infancy is a skin or bone infection with the bacteria Serratia marcescens, and any infant
with an infection with this particular organism should be tested for CGD.
Infections in CGD may involve any organ or tissue, but the skin, lungs, lymph nodes, liver and bones
are the usual sites of infection. Infections may rupture and drain with delayed healing and residual
scarring. Infection of lymph nodes (under the arm, in the groin, in the neck) is a common problem in
CGD, often requiring drainage or surgery along with antibiotics.

Pneumonia is a common problem in CGD. Pneumonias due to the fungus Aspergillus may come on
very slowly, initially only causing fatigue, and only later causing cough or chest pain. Fungal
pneumonias often do not cause fever. In contrast, bacterial infections (Staphylococcus aureus,
Burkholderia cepacia complex, Serratia marcescens, Nocardia) usually come on very quickly with
fever and cough.

Liver abscesses occur in about a third of patients with CGD. An abscess can present as fever and
fatigue, but it may also cause mild pain over the right upper abdomen. Some sort of scan is required
for diagnosis (magnetic resonance imaging or MRI, CT scan, ultrasound), and needle biopsy are
necessary to determine the specific cause of the infection. Staphylococcus aureus causes most liver
abscesses in patients with CGD. Often the liver abscesses are hard to drain and may need surgery.
Sometimes abscesses can be treated with antibiotics and steroids, which reduce the inflammation
and let the antibiotics work better. Bone infection (osteomyelitis) can involve the hands and feet, but
can also involve the spine, particularly if a fungal infection in the lungs spreads to the spine.

One of the most difficult aspects of CGD is the bowel problems. About 40-50% of patients with CGD
develop inflammation in the intestine that is not clearly due to a specific infection. This inflammation
can be mistakenly diagnosed as Crohn’s disease, and it does look a lot like it. It also responds to most
of the same treatments (antibiotics, steroids, other immune suppression drugs). However, injectable
drugs that block the inflammatory molecule tumor necrosis factor alpha (TNFα), which are very
effective in Crohn’s disease, lead to severe infections in patients with CGD and should be avoided.
Similar problems can occur in the bladder or ureters, causing problems with urination.

Diagnosis- There are five different genetic kinds of CGD. The most common form is called X-linked,
because it is on the X chromosome (70% of cases in the U.S) and affects almost only boys. However,
the other four types are located on other chromosomes and have autosomal recessive inheritance.
These forms affect boys and girls equally, so around 15% of cases are in girls.

The most accurate test for CGD measures hydrogen peroxide in phagocytes using a chemical called
dihydrorhodamine. The test is called dihydrorhodamine reduction or DHR. There are other types of
tests still used to diagnose CGD, such as the Nitroblue Tetrazolium (NBT) slide test. The NBT test is
still valuable but more prone to incorrect reading.

Once the diagnosis of CGD is made, it is useful to confirm the genetic sub-type of CGD for genetic
counseling and because some types of CGD need bone marrow transplantation more than others.

Treatment- Early diagnosis of infection and prompt, aggressive use of appropriate antibiotics is the
best way to treat CGD infections.

All patients with CGD should receive antibiotic prophylaxis (prevention), usually with
trimethoprim/sulfamethoxazole (cotrimoxazole, Bactrim or Septra) and itraconazole. These reduce
infections by almost 70%.

Daily doses of the oral antifungal drug itraconazole reduce fungal infections in CGD. Maximum
infection prophylaxis for CGD involves treatment with twice-daily oral doses of cotrimoxazole and
once daily itraconazole, plus three times weekly injections of gamma interferon. With these
prophylactic treatments, the average incidence of severe infections in CGD is less than once every
four years.

Interferon gamma is made normally by the body, but it can also be given by injection to boost
immunity. Patients with CGD who receive interferon gamma (under the skin three times a week)
have 70% fewer infections, and when infections do occur, they may be less serious.

Hematopoetic Stem Cell transplantation can be a curative treatment for CGD, but this is complex and
not yet widely available.

Other phagocytic cell disorders

The chief phagocytic white blood cell is the polymorphonuclear granulocyte (PMN, also known as
neutrophil). To be effective, the neutrophil must move to a site of infection, ingest the organism and
then kill the organism.

Neutropenias are disorders characterized by low numbers of granulocytes, usually defined as a

neutrophil count of less than 500 cells/ul (normal is more than 2,000 cells/ul). Depending on its
severity and duration, neutropenia can lead to serious and fatal infection or intermittent infection of
the skin, mucus membranes, bones, lymph nodes, liver, spleen or blood stream (sepsis).

Neutropenia can occur at birth and can be life-long. One form, termed severe congenital neutropenia
(Kostmann syndrome), is an autosomal recessive disorder. This disorder is associated with a gene
abnormality of a gene called HAX1. These infants require treatment with granulocyte colony
stimulating factor (G-CSF) and may be candidates for bone marrow transplantation.

Another form of neutropenia is cyclic neutropenia, which is an autosomal dominant disorder in

which the neutropenia occurs every two to four weeks and lasts about a week. It is associated with a
gene defect termed ELA2.

A third form, benign chronic neutropenia, has low, but not life threatening, neutropenia and is often
asymptomatic. A final form is immune neutropenia, usually present at birth but sometimes presents
later. In this condition, there is an antibody to the neutrophils that causes their destruction.
Treatment for all of these disorders may include antibiotics for infections, prophylactic antibiotics,
intravenous immunoglobulin, G-CSF injections or bone marrow transplantation.

Phagocyte Killing Defects

Several rare phagocyte defects involve an inability to kill organisms similar to patients with CGD. They
should be suspected in patients who seem to have CGD, but tests for that disorder are normal. These
include enzyme defects or deficiencies of glucose-6-phosphate dehydrogenase, myeloperoxidase,
glutathione reductase and glutathione synthetase.

Leukocyte Adhesion Deficiencies

For neutrophils to go into the tissue and remove invaders, they must be able to exit blood vessels
and enter tissues. This process is complex and there are several specific defects that impair it.
Leukocyte adhesion deficiency type I (LAD1) is the result of mutations in a gene called CD18. LAD1 is
by far the most common cause of leukocyte adhesion deficiency and it is usually corrected by bone
marrow transplantation.

Specific Granule Deficiency- Specific granule deficiency is extremely rare and is associated with killing
defects and decreased granules within the neutrophils. Patients are at risk for bacterial and fungal
infections.
Glycogen Storage Disease Type Ib- a disorder with neutropenia, poor granulocyte killing, a large liver
and low blood sugar. It is due to a defect of the enzyme glucose-6 phosphate transporter 1 with
accumulation of glycogen in the liver.

β-actin Deficiency- it is associated with poor granulocyte movement (chemotaxis) and recurrent
infection. β-actin is a structural protein that allows cell movement. Some patients with chemotactic
disorders have severe periodontitis and early tooth loss. Three of these syndromes are termed
Papillon-Lefebre syndrome, prepubertal periodontitis and juvenile periodontitis.

Chediak Higashi- is a rare autosomal recessive disorder that arises from a microtubule polymerization
defect. CHS is a disease causing impaired bacterial killing due to failure of phagolysosome formation.
There is impaired lysosome degranulation within phagosomes, so phagocytosed bacteria are not
destroyed by the lysosome's enzymes. Giant granules within the neutrophils are characteristic. In
addition, secretion of lytic secretory granules by cytotoxic T-cells is affected. People with CHS have
partial albinism (light skin and silvery hair) and have problems with sun sensitivity and photophobia.
Other signs and symptoms vary considerably, but frequent infections and neuropathy are common.
The infections involve mucous membranes, skin and the respiratory tract. Affected children are
susceptible to infection by Gram-positive and Gram-negative bacteria and fungi, with Staphylococcus
aureus being prominent. Most children with CHS ultimately reach a stage known as the accelerated
phase, also known as the lymphoma-like-syndrome. This severe phase of the disease may be
triggered by a viral infection, usually the Epstein-Barr virus (EBV). In the accelerated phase, defective
white blood cells divide uncontrollably and invade many of the body's organs. The accelerated phase
is associated with fever, episodes of abnormal bleeding, overwhelming infections and organ failure.
These medical problems are usually life threatening in childhood. There is no specific treatment for
CHS. Bone marrow transplants appear to have been successful in several patients. Infections are
treated with antibiotics and abscesses are surgically drained when appropriate.

Q35. Rheumatic fever

Acute rheumatic fever (ARF) is an inflammatory reaction involving the heart, joints, skin and central
nervous system that occurs two to four weeks after an untreated infection with group A
streptococcus (GAS). The pathogenic mechanism that cause rheumatic fever are not completely
understood, but molecular mimicry between streptococcal M protein and human cardiac myosin
proteins is thought to play a role. Because of the structural similarities between two proteins,
antibodies and T cells activated to respond to streptococcal proteins also react with the human
proteins causing tissue injury and inflammation.

In addition to non-specific symptoms e.g. fever, malaise and fatigue, patients present with symptoms
involving the heart i.e. carditis or valvulitis, joints (migratory polyarthritis), skin (subcutaneous
nodules, erythema marginatum) and/or CNS (sydenham chorea-involuntray, irregular, non-repetitive
movements of the limbs, neck, head and/or face).

The diagnosis of ARF is primarily clinical and based on the Jones criteria (an acronym that replaces
the O with a heart: J= Joints, heart= Pancarditis, N= nodules, E=erythema marginatum, S= sydenham
chorea.

Diagnostic evaluation in ARF typically shows elevated inflammatory markers, positive anti-
streptococcal antibodies and valvular damage on echocardiogram.
The first-line treatment is penicillin combined with symptomatic anti-inflammatory treatment,
typically with salicylates or glucocorticoids (if salicylates are not effective). ARF may be complicated
by progressive, permanent damage to the heart valves (especially the mitral valve), resulting in
chronic rheumatic heart disease. Preventing the cardiac complications of ARF is the main goal of
both primary prophylaxis (i.e. antibiotic therapy for GAS pharyngitis) and secondary prophylaxis
(antibiotic administration following episode of ARF).

36. Juvenile (idiopathic) rheumatoid arthritis

Pathology and causes

 ▪ Arthritic symptoms of unknown etiology; present < 16 years old for ≥ six weeks
 ▪ Unknown pathophysiology; appears related to TH1 and TH17 cells → cell mediators ▫ IL-1,
IL-17, TNF-gamma
Risk factors

 ▪ HLA and PTPN22 variants

Complications

 ▪ 10% develop disability in adulthood

Signs and symptoms

 ▪ Arthritis
 ▫ Oligo- or polyarticular involvement; large joints affected > small
 ▪ Rheumatoid nodules, factor usually absent
Diagnosis

Lab results

▪ Antinuclear antibodies may be ⊕ or ⊝ (positive or negative)

Treatment

 ▪ Similar to rheumatoid arthritis

 ▪ Some success with IL-6 R antibody biologic disease-modifying antirheumatic drug (DMARD)

37. Systemic lupus erythematosus SLE, juvenile dermatomyositis and other systemic connective
tissue disease

Pathology and causes

 ▪ Chronic systemic autoimmune disorder; wide range of clinical, serological features

 ▪ Periods of flare-ups, remittance
 ▪ Environmental triggers damage DNA → apoptosis → release of nuclear bodies
 ▪ Clearance of apoptotic bodies ineffective due to genetic defects → increased amount of
nuclear antigens in bloodstream → initiates immune response → production of antinuclear
antibodies → bind to antigens, form immune complexes
 ▪ Complexes deposit in tissues (e.g. kidneys, skin, joints, heart) → Type III hypersensitivity
reaction
 ▪ Individuals may develop antibodies targeting molecules (e.g., phospholipids) of red, white
blood cells → marking them for phagocytosis → Type II hypersensitivity reaction
Risk factors

 ▪ Genetic defects associated with SLE

 ▪ UV radiation
 ▪ Smoking
 ▪ Viral, bacterial infections
 ▪ Medications (e.g. procainamide, hydralazine, isoniazid, estrogens)
 ▪ More common in individuals who are biologically female, of reproductive age
Complications

 Cardiovascular disease
Libman–Sacks endocarditis, myocardial infarction (MI)
 ▪ Serious infections; renal failure; hypertension
Signs and symptoms

 ▪ Fever, joint pain, rash in sun-exposed areas

Typical rashes

▫ Malar rash (butterfly rash): over cheeks

▫ Discoid rash: plaque-like/patchy redness, can scar
▫ General photosensitivity: typically lasts few days

 ▪ Weight loss
 ▪ Ulcers in oral/nasal mucosa
 ▪ Serositis (e.g. pleuritis/pericarditis)
 ▪ Libman–Sacks endocarditis: formation of nonbacterial vegetations on ventricular, atrial
valve surfaces; mitral, aortic valves (most common)
 ▪ Myocarditis
 ▪ Renal disorders
 ▫ Abnormal levels of urine protein, diffuse proliferative glomerulonephritis
 ▪ Neurologic disorders
 ▫ Seizures, psychosis
 ▪ Hematologic disorders
 ▫ Anemia, thrombocytopenia, leukopenia
Diagnosis

SLE diagnostic criteria (minimum 4 of 11)

 ▪ Malar rash
 ▪ Discoid rash
 ▪ General photosensitivity
 ▪ Oral/nasal ulcers
 ▪ Serositis
 ▪ Arthritis in ≥ two joints
 ▪ Renal disorders
 ▪ Neurologic disorders
 ▪ Hematologic disorders
 ▪ Antinuclear antibodies - Very sensitive, not specific
▪ Other antibodies
  ▫ SLE specific: anti-Smith, anti-dsDNA
 ▫ Anti-phospholipid: anticardiolipin (false-positive test for syphilis); lupus anticoagulant
(lupus antibody); anti-beta 2 glycoprotein I
Treatment

 Main goal is to prevent SLE relapses and limit the severity of the autoimmune disorder
Medications

 ▪ Long term therapy - Antimalarial agents

 ▪ Mild to moderate manifestations - non-steroidal anti-inflammatory drugs (NSAIDs), low
doses of corticosteroids
 ▪ Severe/life-threatening manifestations - High doses of corticosteroids, intensive
immunosuppressive drugs
Other interventions

 ▪ Avoid sun exposure

 ▪ Physical exercise
 ▪ Balanced diet
 ▪ Smoking cessation
 ▪ Immunizations

Dermatomyositis

Pathology and causes

 ▪ Autoimmune disorder leading to destruction of small blood vessels in muscles, skin

 ▪ Unknown factor activates C3 protein (complement component 3) → formation of
membrane attack complex (MAC), accumulation in capillaries → destruction of capillary wall
→ microinfarctions
 ▪ Juvenile: around seven years; associated with calcinosis (deposition of calcium in skin)
 ▪ Adult: > 40; associated with malignancy, treating malignancy may cure myositis
Risk factors

 ▪ > 60 years
 ▪ Malignancy
Complications

 ▪ Respiratory muscle weakness; dysphagia (if esophagus, pharyngeal muscles involved);

interstitial pulmonary disease; cardiovascular involvement
Signs and symptoms

 Weakness starts in proximal muscles, slowly progresses (e.g. difficulty getting up)
 ▪ Heliotrope rash
▫ Purplish eyelids with possible periorbital edema
 ▪ Gottron papules
▫ Scaling erythema of knuckles, elbow, knees
 ▪ V-shaped rash on chest
Diagnosis

DIAGNOSTIC IMAGING
  CT scan
▪ Malignancy suspected
Lab results

 ▪ Blood tests
▫ ↑ CK (muscle cells death)
▫ ↑ aspartate aminotransferase (AST)
▫ ↑ lactic dehydrogenase (LDH) ▫ Antinuclear antibodies (ANA)
▫ Anti-Mi-2 antibodies (acute phase, better prognosis)
 ▪ Biopsy
 ▫ Perivascular, perimysial inflammation
▫ Perifascicular atrophy
▫ “Ghost fibers” (destroyed fibers, can no longer be stained)
Other diagnostics

 EMG - ▪ Abnormal signals

Treatment

Medications

 ▪ Corticosteroids (e.g. glucocorticoid)

 ▪ Immunosuppressive agents (e.g. methotrexate)
 ▪ IV immune globulins
Other interventions

 ▪ Physical therapy (preserve muscle strength)

 ▪ Sunscreen, avoid sun exposure (in skin disease)

38. Henoch Schoenlein Purpura and other vasculitis in children

Henoch Schoenlein Purpura

Pathology and causes

 ▪ Small vessel vasculitis secondary to IgA immune complex deposition.

 ▪ Elevated IgA in blood targets self-endothelial cells: molecular mimicry
 ▪ Most common systemic vasculitis of childhood
 ▪ Frequently follows upper respiratory infection
 ▪ Associated with Berger disease (IgA nephropathy)
 ▪ Unknown cause; immune-mediated vasculitis triggered by infections/ immunizations
 ▪ Self-limited disease
▪ Tetrad

 ▫ Palpable purpura, without coagulopathy/ thrombocytopenia; mainly lower extremities

 ▫ Arthritis/arthralgias
 ▫ Renal disease
 ▫ Abdominal pain
Signs and symptoms
▪ Palpable purpura of buttocks, legs (skin discolouration, as if blood collected under skin surface);
abdominal pain; arthritis/ arthralgias; haematuria, decreased kidney function (associated with IgA
nephropathy)

Diagnosis

 Lab results
Biopsy – definitive, not necessary
Treatment

 Self-resolving condition may reoccur in the future. In severe circumstances is steroids

recommended

39. Kawasaki syndrome and other vasculitis in children

Kawasaki syndrome

Pathology and causes

 ▪ Coronary arteries: inflammation → aneurysms

 ▪ AKA mucocutaneous lymph node syndrome ▪ Most common type of vasculitis in children
 ▪ Usually self-limited
RISK FACTORS

 ▪ Infants, children <5 years old, Asian descent, biologically male

COMPLICATIONS

 ▪ Coronary artery aneurysm

 ▪ Decreased myocardial contractility → heart failure
 ▪ Myocardial infarction (MI)
 ▪ Arrhythmias
 ▪ Peripheral artery occlusion

Signs and symptoms

Crash and burn

 Conjunctivitis: bilateral, nonexudative

 Polymorphous Rash: desquamating
 Cervical Lymphadenopathy
 Strawberry tongue: cracked red lips, oral mucositis
 Hand-foot erythema/ desquamation: edema, erythema
 Fever: “burn”
Diagnosis

DIAGNOSTIC IMAGING

 Chest X-ray
 ▪ Cardiomegaly Echocardiography
 ▪ Coronary artery aneurysms, pericardial effusions, decreased contractility
LAB RESULTS
  ▪ ↑ CRP, ESR, platelet count (reactive thrombocytosis)
OTHER DIAGNOSTICS

 ▪ Four of five CRASH symptoms, high fever lasting five days ECG
 ▪ Arrhythmias, abnormal Q waves, prolonged PR, QT intervals
Treatment

 Medications - IVIG (IV immunoglobulins) and Aspirin

Childhood polyarteritis nodosa

Pathology and causes

▪ Immune system forms antibody antigen complex (sometimes associated with hepatitis B) →
deposits in vessel wall → immune reaction → invasion of polymorphonuclear leukocytes →
segmental, transmural inflammation of muscular arteries → necrosis of three artery layers (tunica
intima, media, adventitia) → fibrosis as walls heals (fibrinoid necrosis) → fibrosed vessel wall
weakens, prone to aneurysms → fibrotic aneurysms (hard bulges) develop

▪ Different stages of inflammation in different vessels

Risk factors

 ▪ Individuals > 40 years old, biologically male

 ▪ Active hepatitis B (HBV)/hepatitis C (HCV) infection
 ▪ HIV
 ▪ Prescription/illicit drug exposure, amphetamines
Signs and symptoms

 ▪ Systemic: fever, fatigue, weight loss, arthralgia

 ▪ End organ ischemic damage
 ▪ Renal arteries: HTN
 ▪ Mesenteric artery: mesenteric ischemia, severe abdominal pain, gastrointestinal bleeding
 ▪ Mononeuropathy multiplex: motor, sensory deficits occur in > one nerve throughout body
 ▪ Skin arteries: skin lesions (e.g. ulcers, erythematous nodules resembling erythema
nodosum, purpura, livedo reticularis)
Diagnosis

DIAGNOSTIC IMAGING

 Mesenteric angiogram
▪ “String of beads” pattern along artery, spasms
LAB RESULTS

 ▪ HBV, HCV serologies, Cr, muscle enzymes, urinalysis

 Biopsy
OTHER DIAGNOSTICS

 Physical exam
 ▪ Vascular lesions, motor weakness (due to ischemia)
Treatment

 Corticosteroids
 Cyclophosphamide: supplement corticosteroids in moderate to severe cases

Takayasu arteritis

Pathology and causes

 ▪ Segmental, patchy granulomatous vasculitis of aortic arch, major branches

 ▪ Stenosis, thrombosis, aneurysm
Aetiology

 ▪ Unknown; possibly bacterial (e.g. spirochetes, Mycobacterium tuberculosis, streptococcal)

 ▪ Genetic (HLA-B*52)
Complications

 ▪ Limb ischemia; aortic aneurysm; aortic regurgitation; stroke; secondary hypertension (HTN)
due to renal artery stenosis
Signs and symptoms

 ▪ Inflammation
▫ Aortic branches, upper extremities: weak/absent pulse
▫ Aortic branch, head: neurological symptoms (e.g. headaches, syncope, stroke)
▫ Coronary arteries: angina
▫ Renal arteries: HTN
 ▪ Visual disturbances: ocular vessels/retinal hemorrhage
 ▪ Constitutional symptoms: fever, night sweats, arthralgias, malaise, fatigue
 ▪ Ischemia in areas of stenosis

Diagnosis

DIAGNOSTIC IMAGING

CT angiography (CTA), magnetic resonance angiography (MRA)

 ▪ Luminal narrowing/occlusion of major aortic branches

 ▪ Vessel wall thickening
 ▪ Aortic valve disease (e.g. regurgitation, stenosis)
 ▪ Aneurysmal dilation/pseudoaneurysm formation
Ultrasound
▪ Homogeneous and circumferential thickening of arterial wall (contrast to atherosclerotic plaque:
non-homogeneous, calcified, irregular walls)

▪ Vascular occlusion due to intimal thickening/secondary thrombus formation

▪ Loss of pulsatility of vessel

LAB RESULTS

▪ ↑ ESR

Treatment

Medications

 Corticosteroids and treat HTN (betablockers, ACE inhibitors or ARBs combined with lifestyle
changes)
Surgery

 ▪ Angioplasty (when no acute inflammation); bypass grafting if severe

40. Autoinflammatory syndromes (macrophage activation syndrome)

Signs and symptoms

 Features of macrophage activation syndrome include high, nonremitting fever,

hepatosplenomegaly, generalized lymphadenopathy, rash, hemorrhagic manifestations,
central nervous system dysfunction (including seizures and coma), and shock.
Diagnosis

 Features that help distinguish macrophage activation syndrome from systemic JIA include the
constant fever (unlike the intermittent daily fevers of JIA), constant rash (unlike the transient
rash of systemic JIA), hemorrhagic manifestations, seizures, coma, and shock. Despite
marked systemic inflammation, the erythrocyte sedimentation rate (ESR) is paradoxically
depressed because of low fibrinogen levels.
 Often, however, macrophage activation syndrome cannot be differentiated from active
systemic JIA; discriminatory criteria have been developed and include ferritin > 684 ng/mL ( >
684 mcg/L) plus any 2 of the following:
 Platelets ≤ 181,000/mcL (≤ 181 × 109/L)
 Aspartate aminotransferase > 48 units/L (> 0.80 microkat/L)
 Triglycerides > 156 mg/dL (> 1.76 mmol/L)
 Fibrinogen ≤ 360 mg/dL (≤ 10.58 g/L)
Prognosis

Macrophage activation syndrome has a mortality rate of 8% because of multiorgan failure.

Treatment

 No consensus exists regarding specific treatment.

 Macrophage activation syndrome may respond well to successful treatment of the
underlying rheumatic disease. Specific treatment of this syndrome in systemic JIA usually
includes high-dose corticosteroids and may include other drugs (eg, cyclosporine, interleukin
[IL]-1 inhibitors, cyclophosphamide) and stem cell transplantation.
41. Vaccination in children

 Vaccination has been profoundly effective in preventing serious disease. Given their modest
cost (particularly in comparison to drugs that must be taken long-term), vaccines are one of
the most cost-effective medications. Vaccines have been so effective that many health care
practitioners currently in practice have seen few or no cases of diseases that were once
extremely common and often fatal.
 Because the diseases that vaccines prevent have typically become rare in the West and
because vaccines are given to otherwise healthy children, vaccines must have a high safety
profile to be acceptable to patients and caregivers.
42. Nutritional needs of children and nutrition of children in the first year of life

According to UNICEF, globally, one in three children aged 6–23 months is eating the minimum diverse
diet needed for healthy growth and development. Young children’s diets are frequently comprised of
grains – with little fruit, vegetables, eggs, dairy, fish, or meat. Many are increasingly being fed sugary
drinks and packaged snacks high in salt, sugar, and fat.

The World Health Organization (WHO) recommends exclusive breastfeeding for the first six months
of life and continued breastfeeding up to two years of age or beyond. Breast milk can provide half or
more of a child’s energy needs between the ages of 6 and 12 months, and one third of energy needs
between 12 and 24 months². Breast milk is also a critical source of energy and nutrients during illness
and reduces mortality among children who are malnourished.

An energy intake of 50 kcal/kg per day is adequate to match ongoing expenditure but an additional
energy intake of 70 kcal/kg per day is required to achieve optimal growth. The ideal distribution of
calories should be 60% carbohydrate, 10%-15% protein, and 30% fat.

1. Recommendations for breast milk, infant formula and food introduction

 Breast milk is the best food for the infant, and the baby can safely be breastfed only for the
first six months, with vitamin D supplements, if the baby and mother are happy with it
 If there is a need for food other than breast milk, infant formula is the only option for the
first four months
 Partial breastfeeding is good for child and mother
 If more food than breast milk is needed after the infant has reached the age of four months,
solid foods should be introduced.
 When the baby is six months old, they should be given other food in addition to breast
milk/formula
  Children should, if possible, receive breast milk throughout the first year of life and
preferably longer if the child and mother are happy with it
 Advice on introducing foods and drinks other than breast milk/infant formula

2. Recommendations for supplying energy and nutrients to infants 6–11 months of age

 The infant's energy supply should be about 340 kilojoules per kilogram of body weight at six
months of age
 The energy percentage for children aged 6-11 months, should be 7-15% protein, 30-45% fat,
and 45-60% carbohydrates
 Vitamin A: The recommended intake is 300 retinol activity equivalents per day for children
aged 6–11 months
 Vitamin D: The recommended intake is 10 micrograms (μg) per day for children aged 6-11
months. From the age of four weeks, vitamin D supplements are recommended
 Vitamin E: The recommended intake is 3 α-tocopherole equivalents (TE) per day for children
aged 6-11 months
 Vitamin K: Newborns in Norway routinely receive vitamin K by injection, possibly as a weekly
supplement for three months
 Thiamine/vitamin B1: The recommended intake for children aged 6-11 months is 0.4
milligrams per day
 Riboflavin/vitamin B2: The recommended intake for children aged 6-11 months is 0.5
milligrams per day
 Niacin: The recommended intake for children aged 6-11 months is 5 niacin equivalents (NE)
per day
 Vitamin B6: The recommended intake for children aged 6–11 months is 0.4 milligrams per
day
 Folate: The recommended intake for children aged 6-11 months is 50 micrograms (μg) per
day
 Vitamin B12: The recommended intake for children aged 6-11 months is 0.5 micrograms (μg)
per day
 Vitamin C: The recommended intake for children aged 6-11 months is 20 milligrams per day
 Calcium: The recommended intake for children aged 6-11 months is 540 milligrams per day
 Phosphorus: The recommended intake for children aged 6–11 months is 420 milligrams per
day
 Potassium: The recommended intake for children aged 6-11 months is 1.1 grams per day
 Magnesium: The recommended intake for children ages 6–11 months is 80 milligrams per
day
 Iron: The recommended intake for children aged 6–11 months is 8 milligrams per day
 Zinc: The recommended intake for children aged 6-11 months is 5 milligrams per day
 Copper: The recommended intake for children aged 6-11 months is 0.3 milligrams per day
 Iodine: The recommended intake for children aged 6-11 months is 50 micrograms (μg) per
day
 Selenium: The recommended intake for children aged 6-11 months is 15 micrograms (μg) per
day
 Salt/sodium: For children under two years of age, salt intake should not be higher than 0.5
grams per megajoule. This is equivalent to 0.2 grams of sodium per megajoule.
50- Chronic inflammatory bowel diseases (ulcerative colitis, Crohn's disease)
Chronic inflammatory bowel diseases (IBD) are a group of disorders that cause chronic
inflammation of the gastrointestinal (GI) tract. Ulcerative colitis is a type of IBD that affects
the colon. The exact causes of IBD are not known, but it is believed to be caused by a
combination of genetic, environmental, and immunological factors.
Symptoms of IBD may include abdominal pain, diarrhea, rectal bleeding, weight loss, and
fatigue. These symptoms can range from mild to severe and can occur periodically, also
known as flare-ups. In severe cases, IBD can cause complications such as bowel obstruction,
fistulas, and colon cancer.
Diagnosis of IBD typically involves a combination of medical history, physical examination,
and diagnostic tests, such as blood tests, stool tests, imaging tests (e.g., colonoscopy, CT
scans), and biopsy. Treatment for IBD usually involves a combination of medication and
lifestyle changes, such as a low-residue diet, stress management, and regular exercise. In
severe cases, surgery may be required to remove damaged parts of the GI tract.
Pediatric Crohn's disease is a rare, inflammatory bowel disease characterized by severe,
chronic inflammation of the intestinal wall or any portion of the gastrointestinal tract.
Common symptoms often include diarrhea (sometimes bloody), abdominal pain, fever, and
weight loss. In pediatrics, poor linear growth and lack of adequate weight gain can often be
the presenting concerns; in these instances, proper diagnosis is often delayed. Symptoms may
come and go (relapsing and remitting).
Diagnosis:
approximately 25% are diagnosed as children and teenagers (pediatric population). Children
and adolescents are less likely than adults to have disease that is limited to the small intestine.
The exact cause of pediatric Crohn’s disease is not fully understood, but this is believed to
develop because of multiple different factors occurring together including genetic,
immunologic, and environmental triggers.

51- Cow's milk allergy and food protein intolerance

Cow's milk allergy (CMA) is an immune reaction to the proteins found in cow's milk. It is
one of the most common food allergies in children, and symptoms can range from mild to
severe.
In some cases, CMA can cause anaphylaxis, a life-threatening allergic reaction.
Food protein intolerance (FPI) is a non-allergic reaction to proteins found in certain foods.
Unlike CMA, FPI does not involve the immune system and is usually less severe.
Symptoms of CMA and FPI may include skin rash, hives, wheezing, vomiting, and diarrhea.
These symptoms can occur within minutes or hours of consuming the allergen.
Diagnosis of CMA and FPI usually involves a
-medical history,
-physical examination,
-approximately 25% are -diagnosed as children and -teenagers (pediatric population).
-Children and adolescents are less likely than adults to have disease that is limited to the
small intestine.
Treatment-
avoidance of the allergen and,
in severe cases, the use of epinephrine (adrenaline)
auto-injectors.
eliminating cow’s milk protein from your infant’s diet.
This is usually started with an extensively hydrolyzed formula, which is made up of broken-
down proteins that can be digested without an immune reaction.
An example of this formula is Nutramigen.

52- Lactose intolerance

Lactose intolerance is a condition in which the body is unable to digest lactose, a sugar found
in milk and dairy products. This is due to a deficiency of lactase, the enzyme that breaks
down lactose
Type of lactose intolerance
-Primary lactase deficiency. Primary lactase deficiency is the most common cause of lactose
intolerance worldwide. ...
-Secondary lactase deficiency. ...
-Congenital lactase deficiency. ...
-Developmental lactase deficiency.
Symptoms of lactose intolerance may include
Upset stomach or nausea
Cramps
Bloating
Belly (abdominal) pain
Gas
Loose stool or diarrhea
Vomiting, happens more often to teens
These symptoms typically occur within 30 minutes to 2 hours of consuming dairy products.
Diagnosis of lactose intolerance may involve a
-lactose intolerance test -elimination diet.
- hydrogen breath test
-biopsy /disaccharide test
Treatment may involve avoiding dairy products or taking lactase supplements.

53- Celiac disease

Celiac disease is an autoimmune disorder in which immune system reacts to gluten, a protein
found in wheat, barley, and rye. This reaction damages the small intestine and can cause a
range of symptoms. One child may experience severe diarrhea and abdominal pain while
another may have skin, liver, neurological, dental or other problems .
Autoimmune diseases associated are-
 Type 1 Diabetes
 Hypothyroidism (including Hashimoto’s Disease)
 Hyperthyroidism (including Grave’s Disease)
 Secondary Hyperparathyroidism
 Sjogren’s Syndrome
 Addison’s Disease

Neurological : paraplegia ataxia

GIT:
 Diarrhea
 Lactose Intolerance
 Abdominal Distention
 Wasting
 Change in appetite
 Colitis
 Constipation
 Dyspepsia – “stomach aches”

Diagnosis of celiac disease involves blood tests to check for antibodies to gluten and a biopsy
of the small intestine to confirm the diagnosis.
screen for celiac disease using a blood test, physicians will usually measure levels of:
Immunoglobulin A (IgA)
IgA anti-tissue transglutaminase antibodies (anti-tTG IgA)
IgA anti-endomysial antibodies (EMA IgA)
Treatment involves avoiding gluten-containing foods, which can help alleviate symptoms and
prevent long-term complications such as malnutrition, anemia, and osteoporosis.

54- Cystic fibrosis

Cystic fibrosis (CF) is an inherited (genetic) condition found in children that affects the way
salt and water move in and out of cells. This, in turn, affects glands that produce mucus, tears,
sweat, saliva and digestive juices. Normally, the secretions produced by these glands are thin
and slippery, and help protect the body's tissues. In people with cystic fibrosis, the secretions
are abnormally thick and sticky, so that they don't move as easily. Instead of acting as
lubricants, these thicker secretions may clog tubes, ducts and passageways throughout the
body. Cystic fibrosis also causes increased salt in sweat on the skin.
Symptoms of cystic fibrosis may include persistent coughing, wheezing, and frequent lung
infections, as well as digestive problems such as poor growth and weight gain, abdominal
pain, and frequent bowel movements. There is no cure for cystic fibrosis, but treatment can
help alleviate symptoms and improve quality of life. This may involve medications to help
clear mucus from the lungs, as well as dietary changes, exercise, and other therapies.
Diagnosis:
Babies are usually tested for cystic fibrosis if they are born with the intestinal blockage
mentioned earlier
—sweat chloride testing.
—blood test (genetic sample )
Other test:
Chest X-rays
Pulmonary (lung) function tests (PFTs)
Tests of pancreatic function
Treatment:
No cure …
Symptomatic therapy

55- Clinical picture and causes of respiratory distress in children

Respiratory distress is a medical emergency that occurs when a child's breathing becomes
difficult or labored. This can be caused by a range of conditions, including respiratory
infections, asthma, pneumonia, bronchiolitis, and croup, among others.
Babies who have RDS may show these signs:
  Fast breathing very soon after birth
 Grunting “ugh” sound with each breath
 Changes in color of lips, fingers and toes
 Widening (flaring) of the nostrils with each breath
 Chest retractions - skin over the breastbone and ribs pulls in during breathing

Those at greater risk are:

 siblings that had RDS
 twin or multiple births
 C-section (cesarean) delivery
 mother that has diabetes
 infection
 baby that is sick at the time of delivery
 cold, stress, or hypothermia. Baby cannot keep body temperature warm at birth.

Diagnosis
The diagnosis is made after examining the baby and seeing the results of chest X-rays and
blood tests.
Treatment for respiratory distress depends on the underlying cause and severity of symptoms,
and may include oxygen therapy, medications to relieve bronchospasm or inflammation, and
other supportive measures.

56- Acute infectious diseases of the upper respiratory organs (pharyngitis, tonsillitis,
otitis media)
A- Pharyngitis refers to the inflammation of the pharynx, which is the part of the throat
located behind the nasal cavity and mouth. It is commonly caused by viral or bacterial
infections, and it is one of the most common conditions affecting the upper respiratory tract.
Diagnosis of Pharyngitis:
The diagnosis of pharyngitis typically involves a medical history review, physical
examination, and sometimes additional tests. The healthcare provider will usually start by
asking about the symptoms and duration of illness. They may also inquire about other
associated symptoms like fever, cough, headache, or swollen lymph nodes.
During the physical examination, the healthcare provider will examine the throat for signs of
inflammation, such as redness, swelling, and the presence of pus or exudate. They may also
check for swollen lymph nodes in the neck and assess other respiratory symptoms.
In some cases, additional tests may be conducted to determine the cause of pharyngitis. These
tests can include:
Rapid antigen test: This test can help identify the presence of group A Streptococcus bacteria,
which is a common cause of bacterial pharyngitis. A throat swab is taken and checked for the
presence of bacterial antigens.
Throat culture: This involves taking a throat swab and sending it to a laboratory for culture.
The bacteria are grown in the lab, and the specific strain can be identified, which helps
determine the appropriate antibiotic treatment.
Treatment of Pharyngitis:
The treatment of pharyngitis depends on the underlying cause. If the pharyngitis is caused by
a viral infection, such as the common cold or influenza, treatment focuses on relieving
symptoms and supporting the body's natural healing process. This includes:
1. Resting and getting adequate sleep.
2. Drinking plenty of fluids to stay hydrated.
3. Gargling with warm salt water to soothe the throat.
4. Using over-the-counter pain relievers, such as acetaminophen or ibuprofen, to reduce
pain and fever.
5. Using throat lozenges or sprays that contain anesthetics to temporarily numb the
throat and provide relief.
6. Avoiding irritants like cigarette smoke and other airborne pollutants.
If the pharyngitis is caused by a bacterial infection, such as streptococcal pharyngitis,
antibiotics are usually prescribed. Antibiotics, such as penicillin or amoxicillin, are effective
in treating bacterial infections and can help prevent complications like rheumatic fever. It's
important to complete the full course of antibiotics as prescribed by the healthcare provider,
even if symptoms improve.
B - Tonsillitis refers to the inflammation of the tonsils, which are located at the back of the
throat. Tonsillitis is commonly caused by viral or bacterial infections and can result in
symptoms such as sore throat, difficulty swallowing, and swollen tonsils.
Diagnosis of Tonsillitis:
The diagnosis of tonsillitis typically involves a medical history review, physical examination,
and sometimes additional tests. The healthcare provider will usually start by asking about the
symptoms, duration of illness, and any associated symptoms.
During the physical examination, the healthcare provider will examine the throat and tonsils
for signs of inflammation. They may observe redness, swelling, and the presence of pus or
exudate on the tonsils. The provider will also check for swollen lymph nodes in the neck and
assess other symptoms related to the respiratory system.
In some cases, additional tests may be conducted to determine the cause of tonsillitis or to
assess the severity of the infection. These tests can include:
Throat swab culture: A throat swab is taken and sent to a laboratory for culture. This test
helps identify the specific bacteria causing the infection, such as group A Streptococcus,
which requires antibiotic treatment.
Rapid antigen test: Similar to pharyngitis, a rapid antigen test can be performed to identify
the presence of group A Streptococcus bacteria. This test provides quick results in the clinic.
Treatment of Tonsillitis:
The treatment of tonsillitis depends on the underlying cause and the severity of symptoms.
Here are the common approaches:
Supportive care: If the tonsillitis is caused by a viral infection, treatment mainly involves
supportive care to relieve symptoms and support the body's natural healing process. This
includes:
Resting and getting adequate sleep.
Drinking plenty of fluids to stay hydrated.

57. Stridor in childhood (croup syndrome, epiglottitis, congenital anomalies)

Stridor is a medical term used to describe a high-pitched, harsh sound produced during
breathing. It typically occurs when there is an obstruction or narrowing in the upper
respiratory tract, causing turbulent airflow. Stridor in children can be associated with various
conditions, including croup syndrome, epiglottitis, and congenital anomalies. Let's explore
each of these conditions in more detail:
1. Croup Syndrome:
Croup syndrome, also known as laryngotracheobronchitis, is a common cause of stridor in
children. It primarily affects children between the ages of 6 months and 3 years. The
condition is usually caused by viral infections, most commonly the parainfluenza virus. The
infection leads to inflammation and swelling of the larynx and trachea, resulting in narrowing
of the airway. This narrowing causes the characteristic barking cough and inspiratory stridor.
Symptoms of croup syndrome include a hoarse voice, difficulty breathing, and respiratory
distress. The stridor is often more prominent during inspiration but may be present
throughout the respiratory cycle. Symptoms tend to worsen at night and can be triggered by
crying or agitation. Mild cases can be managed at home with humidified air and supportive
care, while severe cases may require medical intervention, such as corticosteroids or
nebulized epinephrine.
2. Epiglottitis:
Epiglottitis is a potentially life-threatening condition characterized by inflammation and
swelling of the epiglottis, which is the flap of cartilage located at the base of the tongue. It is
primarily caused by a bacterial infection, most commonly Haemophilus influenzae type B
(Hib), although the incidence has significantly decreased due to routine immunization.
Epiglottitis is now relatively rare but remains a medical emergency.
Children with epiglottitis typically present with sudden onset of high fever, severe sore throat,
and difficulty swallowing. The hallmark sign is the presence of drooling and sitting in a
forward-leaning position, trying to maintain an open airway. Stridor is often prominent and
can be inspiratory or biphasic. Immediate medical attention is required for suspected
epiglottitis, as airway management and antibiotics are essential for treatment.

3. Congenital Anomalies:
Certain congenital anomalies can contribute to stridor in children. Examples include
laryngomalacia, tracheomalacia, and vocal cord paralysis.
- Laryngomalacia: Laryngomalacia is the most common cause of congenital stridor. It occurs
due to the immaturity or softness of the laryngeal cartilage, leading to collapse of the tissues
during inspiration. Stridor is typically present from birth or shortly afterward and may worsen
with feeding or in a supine position. Most cases of laryngomalacia resolve spontaneously by
the age of 12 to 18 months.
- Tracheomalacia: Tracheomalacia is characterized by weak or floppy tracheal cartilage,
resulting in collapse of the trachea during respiration. Stridor can be present during
inspiration, expiration, or both. Symptoms may be exacerbated by increased respiratory
effort, such as during coughing or crying. Severe cases may require surgical intervention.
- Vocal Cord Paralysis: Vocal cord paralysis occurs when one or both vocal cords are partially
or completely immobile. It can be congenital or acquired due to trauma or neurological
conditions. Stridor may be present at birth or develop later in infancy. The stridor is typically
inspiratory and may be associated with other signs of vocal cord dysfunction, such as
hoarseness and swallowing difficulties. Management depends on the underlying cause and
may include observation, voice therapy, or surgical intervention.

58. Vision in childhood (definition, classification, treatment)

Vision in childhood refers to the visual capabilities and development of children. It is crucial
for a child's overall growth, learning, and interaction with the environment. Here's an
overview of vision in childhood, including its definition, classification, and treatment:
1. Definition:
Vision refers to the ability to perceive and interpret visual stimuli, including the clarity of
images, depth perception, color vision, and visual acuity. In childhood, vision plays a critical
role in various aspects of a child's life, such as academic performance, social interactions, and
physical coordination.
2. Classification of Childhood Vision Disorders:
Several vision disorders can affect children. Here are some common classifications:
 a. Refractive Errors: Refractive errors, such as nearsightedness (myopia), farsightedness
(hyperopia), and astigmatism, occur when the shape of the eye prevents light from focusing
directly on the retina. Refractive errors can cause blurry vision and may require corrective
measures, such as eyeglasses or contact lenses.
b. Amblyopia (Lazy Eye): Amblyopia is a condition where the vision in one eye does not
develop properly, leading to reduced visual acuity. It is often caused by the brain favoring one
eye over the other due to a significant difference in refractive error, strabismus (misalignment
of the eyes), or other factors. Early detection and treatment, such as patching the stronger eye,
can help improve vision.
c. Strabismus (Crossed or Misaligned Eyes): Strabismus occurs when the eyes are not
aligned and do not work together to focus on an object. It can result in double vision, poor
depth perception, and visual confusion. Treatment options include corrective eyeglasses, eye
exercises, and in some cases, surgery.
d. Color Vision Deficiency: Color vision deficiency, commonly known as color blindness,
is a condition where individuals have difficulty distinguishing certain colors. It is typically
inherited and most commonly affects the perception of red and green colors. Although there
is no cure, color vision deficiency can be managed by adapting to color-related tasks and
using supportive aids.

3. Treatment and Management:

The treatment and management of childhood vision disorders depend on the specific
condition:
a. Vision Correction: Refractive errors can often be corrected with eyeglasses or contact
lenses. Regular eye exams are important to monitor and update prescriptions as needed.
b. Vision Therapy: Vision therapy involves a series of eye exercises and activities
prescribed by an optometrist or ophthalmologist. It aims to improve specific visual skills,
such as eye coordination, focusing ability, and visual perception. Vision therapy is often used
for conditions like amblyopia and certain types of strabismus.
c. Surgery: In cases where non-surgical interventions are insufficient, surgical procedures
may be recommended. Strabismus surgery can help align the eyes, while certain congenital
conditions or eye injuries may require surgical intervention.
d. Early Intervention and Regular Eye Exams: Early detection and intervention are crucial
for managing childhood vision disorders effectively. Regular eye exams, especially during
early childhood and school-age years, can help identify any vision problems and initiate
timely treatment.
59. Acute bronchitis, bronchiolitis
Acute bronchitis and bronchiolitis are respiratory conditions that primarily affect the
bronchial tubes, which are the airways that carry air to and from the lungs. While they share
similarities in terms of symptoms and location, there are important distinctions between the
two conditions. Let's explore each one in detail:
1. Acute Bronchitis:
Acute bronchitis is an inflammation of the bronchial tubes, typically caused by a viral
infection. It is characterized by the sudden onset of coughing, often accompanied by phlegm
production, chest discomfort, and shortness of breath. Acute bronchitis can also result from
bacterial infections, exposure to irritants (such as tobacco smoke or chemical fumes), or
underlying conditions like asthma.
Common symptoms of acute bronchitis include:
- Persistent cough, which may produce clear, white, yellow, or greenish phlegm
- Chest congestion and discomfort
- Fatigue and general malaise
- Sore throat and nasal congestion (if a respiratory virus is the cause)
- Low-grade fever in some cases

Treatment for acute bronchitis primarily focuses on relieving symptoms and supporting the
body's natural healing process. It typically includes:
- Rest and plenty of fluids to help loosen and expel mucus
- Over-the-counter cough suppressants or expectorants to relieve cough symptoms
- Pain relievers (such as acetaminophen or ibuprofen) to alleviate chest discomfort and fever
- Avoidance of irritants, including tobacco smoke and pollutants
- In most cases, antibiotics are not necessary unless there is a suspected bacterial infection or
complications arise.

Acute bronchitis usually resolves within a few weeks, although the cough may persist for a
longer period.
2. Bronchiolitis:
Bronchiolitis is a common respiratory condition that primarily affects infants and young
children. It is most commonly caused by respiratory syncytial virus (RSV), although other
viruses, such as adenovirus and influenza, can also be responsible. Bronchiolitis is
characterized by inflammation and swelling of the bronchioles, which are the smaller airways
within the lungs.
Common symptoms of bronchiolitis include:
- Runny or stuffy nose
- Cough, often with wheezing or crackling sounds
- Rapid or shallow breathing
- Fever
- Poor appetite and decreased activity levels
- In severe cases, signs of respiratory distress, such as retractions (visible inward movement
of the chest during breathing), nasal flaring, or bluish skin coloration

Treatment for bronchiolitis focuses on managing symptoms and providing supportive care, as
there is no specific antiviral treatment for RSV or other viruses causing bronchiolitis.
Treatment options include:

- Ensuring adequate hydration through increased fluid intake

- Frequent nasal suctioning to clear nasal secretions in infants who are unable to blow their
nose
- Use of a cool mist humidifier to help alleviate congestion
- Close monitoring of breathing and oxygen levels in severe cases that may require
hospitalization
- Administration of supplemental oxygen or inhaled bronchodilators in certain situations as
determined by a healthcare professional
Prevention measures, such as good hand hygiene, avoiding close contact with sick
individuals, and RSV vaccination (available for high-risk infants), can help reduce the risk of
bronchiolitis.
In summary, while acute bronchitis and bronchiolitis both involve inflammation in the
bronchial tubes, they differ in terms of their causes, age groups affected, and severity of
symptoms. Acute bronchitis commonly affects older children and adults, while bronchiolitis
primarily affects infants and young children. Treatment for both conditions focuses on
managing symptoms and providing supportive care, but specific antiviral treatment is

60. Children's asthma

Children's asthma is a chronic respiratory condition that affects the airways, causing
inflammation and constriction, leading to breathing difficulties. It is one of the most common
chronic conditions in children and can vary in severity from mild to severe. Here's an
explanation of children's asthma, including its causes, symptoms, diagnosis, and
management:
Causes:
The exact cause of asthma in children is not fully understood. It is believed to result from a
combination of genetic and environmental factors. Common triggers for asthma symptoms in
children include respiratory infections (such as the common cold), exposure to allergens
(such as pollen, dust mites, or pet dander), irritants (such as tobacco smoke or air pollution),
exercise, and emotional stress.
Symptoms:
The symptoms of asthma in children can vary, but the most common ones include:
1. Wheezing: A high-pitched whistling sound during breathing, particularly during exhaling.
2. Coughing: Frequent coughing, especially at night or during physical activity. The cough
may be persistent and worsen when the child is exposed to triggers.
3. Shortness of breath: Difficulty breathing, rapid breathing, or feeling out of breath.
4. Chest tightness: Discomfort or a squeezing sensation in the chest.
5. Fatigue: Tiredness or lack of energy due to the increased effort required to breathe.

Diagnosis:
Diagnosing asthma in children involves a combination of medical history, physical
examination, and lung function tests. The healthcare provider will assess the child's
symptoms, frequency of symptoms, family history of asthma or allergies, and response to
asthma medications. Lung function tests, such as spirometry or peak flow measurements,
may be performed to assess the child's lung function and airway responsiveness.

Management:
The management of children's asthma aims to control symptoms, prevent exacerbations, and
maintain normal activity levels. Treatment approaches typically include:
1. Long-term controller medications: These medications are taken regularly to prevent and
control asthma symptoms. They include inhaled corticosteroids, leukotriene modifiers, long-
acting beta-agonists, and immunomodulators. The specific medications and dosages are
determined by the child's healthcare provider based on the severity and control of the asthma.
2. Quick-relief medications: Also known as rescue or reliever medications, these are used to
provide immediate relief during asthma attacks or when symptoms worsen. Short-acting
bronchodilators, such as albuterol, are commonly used for quick relief of symptoms.
3. Trigger avoidance: Identifying and avoiding triggers that worsen asthma symptoms is
important. This may involve reducing exposure to allergens, improving indoor air quality,
avoiding tobacco smoke, and taking preventive measures during exercise.
4. Asthma action plan: Creating an asthma action plan in collaboration with the child's
healthcare provider helps parents and children understand and manage asthma effectively. It
includes instructions on daily medication use, recognizing and responding to worsening
symptoms, and emergency protocols.
5. Regular follow-up visits: Children with asthma require regular check-ups to assess asthma
control, adjust medications if needed, and provide education and support for the child and
their family.
It's important for parents, caregivers, and schools to be aware of a child's asthma diagnosis,
triggers, and management plan. Collaboration between healthcare providers, parents, and the
child's school can help create a supportive environment and ensure appropriate care during
school hours.
With proper management and adherence to treatment plans, many children with asthma can
lead active and healthy lives.

61. Status asthmaticus: clinical picture and treatment

Status asthmaticus is a severe and life-threatening form of asthma exacerbation that does not
respond to standard treatment measures. It is characterized by persistent and worsening
asthma symptoms despite the use of bronchodilators and other asthma medications. Status
asthmaticus is a medical emergency that requires immediate intervention.
Clinical Picture:
The clinical picture of status asthmaticus involves severe and prolonged asthma symptoms
that may include:
1. Extreme breathlessness: The individual experiences severe difficulty in breathing, with
increased respiratory rate and effort. They may adopt a hunched or forward-leaning posture to
try to maximize airflow.
2. Wheezing: Continuous or noisier wheezing sounds during breathing, indicating significant
airway constriction.
3. Persistent cough: Coughing that is relentless and unrelieved by usual asthma medications.
4. Cyanosis: Bluish discoloration of the lips, face, or extremities due to inadequate
oxygenation.
5. Inability to speak in full sentences: The individual may struggle to form complete
sentences due to breathlessness.
6. Decreased peak flow readings: Peak flow measurements, used to monitor lung function in
asthma, may be significantly reduced.
7. Signs of respiratory distress: These may include retractions (visible sinking in of the chest
muscles during breathing), nasal flaring, and an increased heart rate.
8. Altered mental status: In severe cases, the individual may appear agitated, confused, or
lethargic due to oxygen deprivation.

Treatment:
Prompt and aggressive treatment is crucial in managing status asthmaticus. The goals of
treatment are to relieve bronchospasm, improve oxygenation, and prevent complications. The
following interventions are typically implemented:

1. Oxygen therapy: Administration of supplemental oxygen to maintain adequate oxygen

saturation levels.
2. High-dose inhaled bronchodilators: Short-acting beta-agonists, such as albuterol, are
administered via a nebulizer or inhaler with a spacer to help open the airways. In severe
cases, continuous nebulization or intravenous administration of bronchodilators may be
necessary.
3. Systemic corticosteroids: Oral or intravenous corticosteroids are given to reduce airway
inflammation and improve symptoms. These medications help in reducing airway swelling
and mucus production.
4. Intravenous fluids: Hydration is important to help thin mucus secretions and prevent
dehydration.
5. Monitoring and support: Close monitoring of vital signs, oxygen saturation, and respiratory
status is essential. In severe cases, continuous monitoring and support in an intensive care
setting may be required.
6. Additional medications: Other medications, such as ipratropium bromide (an
anticholinergic bronchodilator), magnesium sulfate (which can help relax bronchial smooth
muscles), and heliox (a gas mixture of helium and oxygen), may be considered in refractory
cases.
7. Mechanical ventilation: In extreme cases where respiratory failure persists despite medical
treatment, mechanical ventilation may be necessary to provide respiratory support.
It is important to note that the treatment of status asthmaticus should be individualized based
on the severity of symptoms, response to treatment, and guidance from healthcare
professionals. Regular communication with a healthcare provider is crucial to ensure
appropriate management and follow-up care.
Prevention of status asthmaticus involves adherence to prescribed asthma medications,
identifying and avoiding triggers, and maintaining good asthma control through regular
check-ups and asthma action plans.
62. Pneumonia in children (out-of-hospital and in-hospital)

Pneumonia is an infection that causes inflammation in the lungs, resulting in respiratory

symptoms. It can affect children of all ages, from infants to teenagers. Pneumonia in children
can be classified into two categories: out-of-hospital pneumonia (community-acquired
pneumonia) and in-hospital pneumonia (hospital-acquired pneumonia). Here's an explanation
of each:

1. Out-of-Hospital Pneumonia (Community-Acquired Pneumonia):

Out-of-hospital pneumonia refers to cases where a child develops pneumonia outside of a
healthcare setting. It is typically caused by viruses or bacteria, with viral infections being
more common, especially in younger children. Common pathogens that cause community-
acquired pneumonia in children include respiratory syncytial virus (RSV), influenza virus,
adenovirus, and Streptococcus pneumoniae.

Clinical Picture:
The clinical presentation of out-of-hospital pneumonia in children can vary, but typical
symptoms include:
1. Cough: A persistent cough that may produce phlegm or mucus.
2. Rapid or difficult breathing: Increased respiratory rate, shortness of breath, or chest
retractions (visible sinking in of the chest muscles during breathing).
3. Fever: Often accompanied by chills and body aches.
4. Chest pain: Discomfort or sharp pain in the chest, especially during coughing or breathing
deeply.
5. Fatigue and general malaise: Children may feel tired, weak, or less active than usual.
6. Decreased appetite: A reduced desire to eat or drink.

Diagnosis and Treatment:

The diagnosis of out-of-hospital pneumonia in children involves a combination of medical
history, physical examination, and additional investigations. These may include chest X-ray,
blood tests, and occasionally a respiratory sample (such as a throat swab or sputum culture) to
identify the causative organism.

The treatment of out-of-hospital pneumonia depends on the suspected or confirmed pathogen

and the severity of symptoms. It may involve:
- Antibiotics: If a bacterial infection is suspected, antibiotics are prescribed. The choice of
antibiotic depends on the child's age, local resistance patterns, and the severity of illness.

- Antiviral medications: If a viral infection is diagnosed, antiviral medications may be used

for specific viral pathogens such as influenza.

- Supportive care: This includes ensuring proper hydration, managing fever and pain with
appropriate medications, and providing supplemental oxygen if needed.

2. In-Hospital Pneumonia (Hospital-Acquired Pneumonia):

In-hospital pneumonia refers to pneumonia that develops during a hospital stay for another
condition. It is usually caused by different pathogens than community-acquired pneumonia
and is associated with increased morbidity and mortality.

Risk factors for hospital-acquired pneumonia in children include prolonged hospitalization,

underlying medical conditions, invasive medical procedures, and exposure to healthcare-
associated pathogens.

Diagnosis and Treatment:

Diagnosing and treating in-hospital pneumonia follows a similar approach to community-
acquired pneumonia, but with additional attention to potential healthcare-associated
pathogens. Treatment often involves broad-spectrum antibiotics tailored to cover a range of
possible pathogens until specific microbiological results are available.
Prevention:
Preventing pneumonia in children involves various measures, including:
- Vaccination: Ensuring that children receive recommended vaccinations, such as the
pneumococcal conjugate vaccine and influenza vaccine, which can protect against common
pneumonia-causing pathogens.
- Hand hygiene: Promoting regular hand washing and sanitizing practices for both children
and caregivers.
- Avoiding exposure to tobacco smoke: Reducing exposure to secondhand smoke, as it
increases the risk of pneumonia and respiratory infections.
- Proper nutrition and breastfeeding: Ensuring that children receive adequate nutrition and, in
infants, promoting exclusive breastfeeding, as it helps build immunity.
- Maintaining a healthy environment:
63. Bronchiectasis
Bronchiectasis is a chronic respiratory condition characterized by permanent and abnormal
widening of the bronchial tubes in the lungs. This widening occurs due to damage to the
airways, leading to the accumulation of mucus, impaired clearance of secretions, and
recurrent respiratory infections. Over time, bronchiectasis can cause progressive lung damage
and respiratory complications. Here's a comprehensive explanation of bronchiectasis,
including its causes, symptoms, diagnosis, and treatment:
Causes:
Bronchiectasis can have various underlying causes, including:
1. Primary bronchiectasis: This refers to cases where the cause is idiopathic (unknown) or
genetic factors play a role. Genetic conditions like cystic fibrosis and primary ciliary
dyskinesia are associated with primary bronchiectasis.
2. Secondary bronchiectasis: This occurs as a result of other underlying conditions or factors,
including:
- Respiratory infections: Severe or recurrent respiratory infections, such as pneumonia or
tuberculosis, can damage the bronchial tubes and lead to bronchiectasis.
- Obstruction: Blockage or obstruction of the airways by a foreign body, tumor, or enlarged
lymph nodes can cause bronchiectasis.
- Autoimmune diseases: Conditions like rheumatoid arthritis or inflammatory bowel disease
can be associated with bronchiectasis.
- Immunodeficiency disorders: Inherited or acquired immune deficiencies can increase the
risk of recurrent respiratory infections and bronchiectasis.
- Inhalation of toxic substances: Prolonged exposure to toxic fumes, chemicals, or
pollutants can damage the airways and lead to bronchiectasis.

Symptoms:
The symptoms of bronchiectasis can vary among individuals but commonly include:
- Chronic cough: Persistent cough that produces large amounts of thick or purulent (pus-
filled) sputum.
- Recurrent respiratory infections: Frequent episodes of respiratory infections, such as
bronchitis or pneumonia.
- Shortness of breath: Difficulty breathing, especially with exertion.
- Chest pain or discomfort.
- Fatigue and general malaise.
- Wheezing or noisy breathing.
- Hemoptysis: Coughing up blood or blood-streaked sputum (less common).
Diagnosis:
The diagnosis of bronchiectasis involves a combination of clinical evaluation, medical
history, imaging studies, and lung function tests. The following diagnostic procedures may be
used:
- Chest X-ray: To visualize the lungs and identify any abnormalities.
- High-resolution computed tomography (HRCT) scan: The most sensitive imaging technique
for detecting bronchiectasis, providing detailed images of the airways.
- Sputum culture: To identify any underlying infection and determine appropriate antibiotic
treatment.
- Pulmonary function tests: To assess lung function and identify any obstructive or restrictive
patterns.
- Bronchoscopy: In some cases, a thin, flexible tube with a camera (bronchoscope) is inserted
into the airways to directly visualize and obtain samples from the lungs.

Treatment:
The treatment of bronchiectasis aims to control symptoms, prevent complications, and
improve overall lung function. It typically involves:
- Chest physiotherapy: Techniques such as postural drainage, percussion, and breathing
exercises are used to help clear mucus from the airways.
- Medications:
- Bronchodilators: Inhaled bronchodilators may be prescribed to relieve bronchial spasms
and improve airflow.
- Mucolytics: Medications that help thin and loosen mucus, making it easier to cough up.
- Antibiotics: Antibiotics are used to treat bacterial infections and prevent exacerbations.
- Immunizations: Annual influenza vaccination and pneumococcal vaccination are
recommended to prevent respiratory infections.
64. Pleurisy and pneumothorax

Pleurisy:

 Inflammation of the membranes that surround the lungs and line the chest cavity (pleurae).
 Aetiology
o Viral infections (most common cause) – adenovirus, coxsackieviruses, CMV, EBV,
influenza virus, parainfluenza virus, RSV.
o Bacterial infections – pneumonia (parapneumonic pleuritis), tuberculosis (TB
pleuritis).
o Inflammatory conditions – systemic lupus erythematosus
 Clinical features – pleuritic chest pain (sharp retrosternal pain aggravated by coughing,
swallowing, deep breathing) and pleural friction rub on auscultation, plus those of the
underlying disease e.g., dry cough, dyspnoea, fever.
 Diagnosis is made by history and physical examination. Chest X-ray may show signs of
underlying pathology e.g., pneumonia or pleural effusion.
 Treatment – NSAIDs for symptomatic relief. Treat underlying cause accordingly.

Pneumothorax:

 A collection of air within the pleural space between the lung (visceral pleura) and the chest
wall (parietal pleura) that can lead to partial or complete pulmonary collapse.
o Primary spontaneous pneumothorax – occurs without apparent underlying cause.
 Rupture of pulmonary blebs → air moves into pleural space with increasing
positive pressure → ipsilateral lung is compressed and collapses.
o Secondary spontaneous pneumothorax – complication of underlying lung disease
o Recurrent pneumothorax – a second episode of spontaneous pneumothorax
(ipsilateral or contralateral).
o Traumatic pneumothorax – air enters through hole in lung in closed pneumothorax
(e.g., blunt trauma) or through a lesion in chest wall in open pneumothorax (e.g.,
penetrating trauma).
o Tension pneumothorax – a life-threating variant characterised by progressively
increasing pressure within the chest and cardiorespiratory compromise. Most are
caused by traumatic chest injury or mechanical ventilation.
 Disrupted visceral/parietal pleura or tracheobronchial tree → one-way valve
mechanism. Air enters pleural space but cannot exit → increasing pressure
and collapse of ipsilateral lung with compression of contralateral lung,
trachea, heart, superior vena cava → haemodynamic instability.
 Primary spontaneous pneumothorax is most common among 16–25-year-olds and 6 times
more likely in males, especially those with asthenic body habitus (tall, slim stature).
 Clinical features
o Sudden, severe, ipsilateral pleuritic chest pain (sharp retrosternal pain aggravated by
coughing, swallowing, deep breathing) and dyspnoea.
o Reduced or absent breath sounds, hyper-resonant percussion, decreased fremitus on
ipsilateral side.
o In tension pneumothorax there may be severe acute respiratory distress, distended
neck veins and haemodynamic instability (tachycardia and hypotension).
 Diagnosis is confirmed by X-ray.
o Ipsilateral pleural line with reduced lung markings (increased transparency).
 o Deep sulcus sign – decreased radiodensity and deep costophrenic angle on the
ipsilateral side.
o Hemidiaphragm elevation on the ipsilateral side.
 Treatment
o Provide respiratory support and treat dyspnoea.
o Evaluate size and type of pneumothorax.
o Stable spontaneous pneumothorax – depends on risk of progression and recurrence.
Conservative management if low risk. Chest drain placement if high risk.
o Traumatic pneumothorax – most will require chest drain placement.
o Tension pneumothorax – immediate chest decompression and treat obstructive
shock if present.

65. Tuberculosis

 Caused by Mycobacterium tuberculosis (acid-fast bacilli). Transmitted via respiratory

droplets.
 Often initially asymptomatic and dormant due to intact innate and cellular immune
responses. Becomes active if immune system is compromised.
 Active TB – fever, weight loss, night sweats and a productive cough (with or without
haemoptysis) that does not respond to conventional antibiotics.
 Infection may spread haematologically to any organ, causing extrapulmonary TB.
 BCG vaccine (live attenuated strain of Mycobacterium bovis).
 Diagnosis of active TB
o Microbiological studies
 Ziehl-Neelsen staining for inexpensive, rapid detection.
 Polymerase chain reaction (PCR).
 Culture on Löwenstein–Jensen medium.
o Antibiotic susceptibility testing – may take several weeks for result.
o Chest X-ray
 Consolidation, hilar lymphadenopathy, Ghon complex (granuloma), pleural
effusion.
 Treatment
o Rifampin plus isoniazid.
o Pyridoxine to prevent Vitamin B6 deficiency from isoniazid use.
 Screening for latent TB
o Mantoux test (tuberculin skin test) – intradermal injection of tuberculin. Positive if
an induration of > 5 mm forms after 2-3 days, regardless of BCG vaccination history.
o Interferon gamma release assay (IGRA) test – based on detecting the response of
white blood cells to TB antigens. Rapid result and less likely to give false positives.
 Other forms:
o Miliary tuberculosis – widespread haematogenous dissemination to multiple organs.
Fever, malaise, weight loss, lymphadenopathy, night sweats, hepatosplenomegaly.
o Tuberculous meningitis – typically occurs in children under 5 or those who are
immunocompromised.
o Skeletal tuberculosis
o Congenital tuberculosis – can mimic neonatal sepsis.
66. Congenital heart defects without communication between systemic and pulmonary blood flow

Obstructive lesions:

 Blood flow is obstructed, causing a pressure gradient across the obstruction. The resulting
pressure overload proximal to the obstruction may cause ventricular hypertrophy and heart
failure. The most obvious manifestations is a heart murmur, which results from the turbulent
blood flow through the obstructed (stenotic) point.
 Includes aortic stenosis, pulmonic stenosis and coarctation of the aorta.

Congenital aortic stenosis:

 Valvular, subvalvular, or supravalvular aortic stenosis represents approximately 5% of

congenital heart diseases.
 Clinical manifestations
o Asymptomatic in mild to moderate obstructions.
o More severe stenosis – easy fatigability, exertional chest pain and syncope.
o Infants with critical aortic stenosis may present with symptoms of heart failure.
o A Systolic ejection murmur is heard at the right second intercostal space along the
sternum and radiating into the neck. With valvular stenosis, a systolic ejection click is
often heard, and a thrill may be present at the right upper sternal border or in the
suprasternal notch.
 Imaging studies
o ECG and chest x-ray findings are normal with mild degrees of stenosis.
o Left ventricular hypertrophy develops with moderate to severe stenosis and is
detected on both ECG and X-ray. Echocardiography shows the site of stenosis, valve
morphology and the presence of left ventricular hypertrophy, and it allows an
estimate of the pressure gradient.
 Treatment – degree of aortic stenosis frequently progresses with growth and age. Balloon
valvuloplasty is usually the first interventional procedure for significant stenosis. Surgical
management is necessary if this is unsuccessful.

Congenital pulmonic stenosis:

 Accounts for ~10% of all congenital heart disease and can be valvular, subvalvular or
supravalvular.
 Clinical manifestations
o Mild is pulmonary stenosis is asymptomatic. Moderate to severe results in exertional
dyspnoea and easy fatigability.
o Systolic ejection murmur at the second left intercostal space which radiates to the
back. A thrill may be present.
 Imaging
o Normal ECG and X-ray findings in mild stenosis.
o Moderate to severe stenosis results in right axis deviation and right ventricular
hypertrophy. Heart size is usually normal on chest x-ray, although dilation of the
main pulmonary artery may be seen.
 o Echocardiography can be used to determine site of stenosis, degree of hypertrophy,
valve morphology, as well as an estimate of the pressure gradient.
 Treatment – Balloon valvuloplasty is often successful in reducing the gradient to acceptable
levels for more significant or symptomatic stenosis. Surgical repair is required when this is
unsuccessful or subvalvular (muscular) stenosis is present.

Coarctation of the aorta:

 Occurs in approximately 10% of all congenital heart defects. It is almost always juxtaductal in
position. During development of the aortic arch, the area near the insertion of the ductus
arteriosus fails to develop correctly, resulting in a narrowing of the aortic lumen.
 Clinical manifestations
o Timing of presentation depends on the severity of obstruction and associated
cardiac defects. Infants presenting with the condition will frequently also have a
hypoplastic aortic arch, abnormal aortic valves, and VSDs. They may be dependent
on a patent ductus arteriosus to provide descending aortic flow and may present
with a differential oxygen saturation between the right arm and leg on newborn
screening. Symptoms develop when the aortic ampulla of the ductus closes with
classic age of presentation at 2 weeks of age. Less severe obstruction causes no
symptoms in infancy.
o Symptoms include poor feeding, respiratory distress, and shock may develop before
2 weeks of age.
o Radiofemoral delay
 Imaging studies
o ECG and X-ray show evidence of right ventricular hypertrophy in infantile coarctation
with marked cardiomegaly and pulmonary oedema.
o In older children, the ECG and chest X-ray usually show left ventricular hypertrophy
and a mildly enlarged heart. Rib notching may also be seen in older children (> 8
years of age) with large collaterals.
o Echocardiography shows the site and degree of coarctation, the presence of left
ventricular hypertrophy, and the aortic valve morphology and function.
 Treatment
o Presentation with cardiac decompensation will usually involve IV infusion of
prostaglandin E1 (chemically opens the ductus arteriosus), inotropic agents and
other supportive care.
o Surgical repair of the coarctation is also commonly performed.

67. Congenital heart defects with left-right shunt

 Oxygenated blood from the lungs is shunted back into the pulmonary circulation via an atrial
septal defect (ASD), ventricular septal defect (VSD), or patent ductus arteriosus (PDA).
 These result in pulmonary hypertension.
 Right ventricular pressure overload → right-sided heart hypertrophy (cardiomegaly on x-ray)
and heart failure but no cyanosis.
  Eisenmenger syndrome is a potential complication of all 3 – reversal of left-to-right shunt and
development of a cyanotic heart defect due to right ventricular pressure exceeding left
ventricular pressure. May require heart-lung transplantation.

Atrial septal defect:

 More common in females. 2nd most common congenital heart defect (CHD).
 Causes – Down syndrome (trisomy 21), fetal alcohol syndrome, Holt-Oram syndrome (also
termed hand-heart syndrome due to upper limb and congenital cardiac septal defects)
 Impaired growth or excessive resorption of the atrial septa in utero.
 ASD → oxygenated blood shunting from LA to RA → increased oxygen saturation in the RA →
increased oxygen saturation in the RV and pulmonary artery.
 Small defects are usually asymptomatic. Larger defects can vary from asymptomatic to heart
failure. Symptoms typically manifest with advancing age.
 Diagnostics – Echocardiography, ECG (signs of RV hypertrophy – right axis deviation, PR
prolongation, RBBB), X-ray (enlarged RA, ventricle and pulmonary arch).
 Systolic ejection murmur over second left intercostal space along sternal border. Widely split
second heart sound over second left ICS that does not change with respiration.
 Treatment – spontaneous closure may occur. Patch repair for symptomatic children with
significant left-to-right shunt.

Ventricular septal defect:

 Abnormal communication between left and right ventricle. Typically located in the
membranous part of the ventricular septum. It is the most common CHD.
 Causes – Down syndrome (trisomy 21), Edward syndrome (trisomy 18), Patau syndrome
(trisomy 13) or intrauterine infections (e.g., TORCH).
 Excessive pulmonary blood flow → increased pulmonary artery pressure → pulmonary
hypertension. Cardiac output reduced.
 Small defects usually asymptomatic. Medium-sized ones can lead to heart failure by age 2-3
months.
 Harsh holocystolic murmur over left lower sternal border. Mid-diastolic murmur over cardiac
apex.
 Treatment – may heal spontaneously if small defect. Surgical patch repair if larger defect

Patent ductus arteriosus:

 Failure of the ductus arteriosus to completely close postnatally (should close in first 48
hours).
 More common in females.
 Causes – prematurity, respiratory distress syndrome, trisomies (e.g., Down syndrome), or
maternal exposure (Rubella infection, alcohol consumption, phenytoin use, prostaglandin
use).
 Pathophysiology
o Ductus arteriosus enables the underdeveloped lungs to be bypassed by the fetal
circulation (normal right-to-left shunt) and remains patent in utero via prostaglandin
E and low O2 tension.
 o After birth, pulmonary vascular resistance decreases and thus allows for the reversal
of the shunt from right-to-left to left-to-right.
o Failure of the ductus arteriosus to close after birth → persistent communication
between the aorta and the pulmonary artery → left-to-right shunt → volume
overload of the pulmonary vessels → continuous RV (and/or LV) strain → heart
failure.
 Clinical features
o Small PDA – asymptomatic.
o Large PDA – failure to thrive and symptoms of heart failure in infancy. Machinery
murmur (loud continuous murmur) on auscultation.
 Diagnostics – echocardiogram, ECG (left axis deviation due to LVH in large PDA), X-ray
(prominent pulmonary artery).
 Treatment
o Elective ductal closure if symptomatic or left heart enlargement
o Pharmacological closure in preterm infants – infusion of indomethacin or ibuprofen.
Inhibits prostaglandin synthesis and induces closure of the ductus.

68. Congenital heart defects with right-left shunt

 Blood flows from the right to the left heart via a shunt → deoxygenated blood entering the
systemic circulation → cyanosis.
 Occurs when there is a passage between atria, ventricles and/or great vessels and the right
heart pressure is higher than left heart pressure and/or the shunt has a one-way valvular
opening.
 Causes – persistent truncus arteriosus (failure to divide into pulmonary trunk and aorta –
mixed blood provided to coronary + pulmonary arteries and systemic circulation),
transposition of great vessels, tricuspid atresia (its complete absence), tetralogy of Fallot.
 Most common cause is tetralogy of Fallot (4 co-existing heart defects). Associated with
DiGeorge and Down syndromes:
o Pulmonary stenosis – narrowing of pulmonary valve and outflow tract, obstructing
blood flow from RV to pulmonary artery.
o Right ventricular hypertrophy
o Ventricular septal defect
o Overriding aorta (aorta is displaced above the ventricular septal defect)
 Symptoms – early cyanosis due to decreased blood flow through the pulmonary system.
Hypoxaemia manifests as cyanosis.
 Eisenmenger syndrome - An uncorrected left-to-right shunt can progress to a right-to-left
shunt; this process is termed Eisenmenger syndrome. This is seen in Ventricular septal
defect, Atrial septal defect, and patent ductus arteriosus, and can manifest as late as adult
life. This switch in blood flow direction is precipitated by pulmonary hypertension due to
increased pulmonary blood flow in a left-to-right shunt. The right ventricle hypertrophies to
compensate for this pulmonary hypertension, so the right ventricular pressure becomes
higher than the pressure in the left ventricle. Because of this switch in the pressure gradient,
blood starts flowing right to left, forming a right-to-left shunt. As with any right-to-left shunt,
there is decreased blood flow to the lungs, resulting in decreased oxygenation of blood and
cyanosis.
69. Rhythm disorders in childhood

Atrial dysrhythmias:

 Supraventricular tachycardias (most common dysrhythmia in the paediatric population)

o SVT refers to any tachydysrhythmia arising from above the level of the Bundle of His,
and encompasses regular atrial, irregular atrial, and regular atrioventricular
tachycardias.
o Rapid, regular rate with a narrow QRS complex. In infants, heart rate may be 280-300
bpm with slower rates for older children and adolescents. In a child with a
structurally normal heart, most episodes are relatively asymptomatic other than a
pounding heartbeat. If there is structural heart disease or the episode is > 12 hours,
symptoms of heart failure can develop.
o Of children presenting with SVT half will have no underlying heart disease, a quarter
will have Wolff-Parkinson-White syndrome, and a quarter will have congenital heart
disease.
o Wolff-Parkinson-White syndrome
 Congenital condition characterised by intermittent tachycardias involving an
accessory pathway (bundle of Kent) and ventricular pre-excitation.
 ECG features - sinus rhythm with pre-excitation pattern, delta wave, wide
QRS complex.
 Treatment options include antiarrhythmics and catheter ablation (using radio
frequency electric current to destroy pathologic tissue).
 Premature atrial contractions
o Common prenatally and in infants. Premature P wave, usually with an abnormal axis
consistent with its ectopic origin. Premature atrial activity may be blocked (no QRS
after), conducted normally (normal QRS), or conducted aberrantly (widened, altered
QRS).
o Usually benign and, if present around the time of delivery, usually disappear during
the first few weeks of life.

Ventricular dysrhythmias:

 Premature ventricular contractions (PVCs)

o Less common that premature atrial contractions in infancy but more common in
older children and adolescents.
o The premature beat is not preceded by a P wave and the QRS complex is wide and
abnormal. Usually benign if they occur as a singleton and disappear with increased
heart rate.
 Ventricular tachycardia
 Three or more consecutive PVCs. Rare in paediatric patients. Sign of serious cardiac
dysfunction. Results in decreased cardiac output and cardiovascular instability. Treated with
synchronised cardioversion.
  Long QT syndrome (LQTS)
o QT interval (ventricular depolarization and repolarization) is prolonged. > 440 ms in
males, > 460 ms in females.
o Usually asymptomatic but may present with seizures, syncope, or even life-
threatening arrhythmias and sudden death.
o Congenital LQTS arises from mutations in genes that code for ion channels within
myocytes e.g., KCNE1 gene located on chromosome 11p.
o Treatment – beta blockers and implantable cardioverter defibrillator (ICD).

Heart block:

 First-degree heart block

o Presence of a prolonged PR interval. Asymptomatic and when present in otherwise
normal children it requires no intervention.
 Second-degree heart block
o When some, but not all P waves are followed by a QRS complex.
 Mobitz type I (Wenckebach) – progressive prolongation of PR interval until a
QRS complex is dropped. Doesn’t require treatment in normal children.
 Mobitz type II – PR interval is unchanged but a QRS is intermittently
dropped. May progress to complete heart block and require a pacemaker.
 Third-degree heart block
o No relationship between atrial and ventricular activity. Ventricular rate is much
slower than atrial rate.
 Congenital complete heart block
o Associated with maternal collagen vascular disease (e.g., systemic lupus
erythematosus or Sjogren syndrome) or congenital heart disease. Likely requires a
pacemaker.
70. Infective endocarditis

 Infection of the endocardium that typically affects one or more heart valves. Usually results
from bacteraemia which can be caused by dental procedures, surgery, distant primary
infections, and non-sterile injections.
 Acute bacterial endocarditis is usually caused by Staphylococcus aureus and typically affects
healthy valves, leading to rapid destruction of endocardial tissue. Often fatal within 6 weeks
if left untreated.
 Subacute bacterial endocarditis is typically caused by viridans streptococci. Generally affects
those with pre-existing damage to heart valves, structural heart defects, or prosthetic valves.
The principal cause of IE in children with congenital heart diseases without previous surgery.
 Risk factors
o Acquired valvular disease
 Rheumatic heart disease
 Scarring following Group A streptococcal infection (rheumatic fever).
Most common in children aged 5-15.
 Aortic stenosis
o Prosthetic heart valves
o Congenital heart defects
 Ventricular septal defect
 Most common congenital heart defect. Left-right shunt. Often seen
Down/Edward/Patau syndromes or following intrauterine infections
(e.g., TORCH).
 Pathophysiology
o 1. Damaged valvular endothelium → exposure of subendothelial layer → adherence
of platelets and fibrin → sterile vegetation.
o 2. Bacteraemia → colonisation of vegetation → formation of fibrin clots encasing the
vegetation → valve destruction with loss of function (valve regurgitation).
 Clinical features
o Constitutional symptoms – Fever, tachycardia, malaise, weight loss, night sweats,
Dyspnoea, cough, pleuritic chest pain, arthralgias, or myalgias.
o Cardiac manifestations may include:
 Tricuspid valve regurgitation – holosystolic murmur that is loudest at left
sternal border.
 Aortic valve regurgitation – early diastolic murmur (loudest at 3rd and 4th
intercostal spaces and along left sternal border).
 Mitral valve regurgitation – holosystolic murmur (loudest at heart’s apex and
radiates to the left axilla).
o Extracardiac manifestations
 Petechiae, especially splinter haemorrhages under fingernails
 Janeway lesions (non-tender erythematous macules on palms and soles)
 Osler nodes – painful nodules on pads of fingers and toes due to immune
complex deposition.
 Roth spots – round retinal haemorrhages with pale centres.
 Renal impairment
 Neurological – meningitis, encephalitis
 Treatment
o Severely ill patients must be stabilised with supportive therapy for cardiac failure,
pulmonary oedema, and low cardiac output. Empirical antibiotic therapy may be
started in these cases.
o With subacute disease, awaiting results of blood cultures to confirm diagnosis and
antibiotic susceptibility is recommended before starting antibiotic therapy. This is
typically for 4-6 weeks because the antibiotics must reach the organisms through
passive diffusion through the fibrin mesh.
 Prevention – emphasise importance of good oral hygiene in those at risk of IE. In certain
high-risk patients (previous IE, prosthetic cardiac valve, congenital heart disease…),
prophylactic antibiotics should be considered before certain dental or other invasive
procedures of the respiratory tract.
71. Myocarditis

Myocarditis is acute or chronic inflammation of the myocardium, which can affect people of all ages,
including children. It is characterised by:

1) Inflammatory cells infiltrates in myocardium

2) Myocyte degeneration or necrosis

In paediatrics, the most common cause of myocarditis is a viral infection e.g. coxsackie B and EBV,
although it can also be caused by bacterial or fungal infections, medications like adriamycin, or
autoimmune disorders e.g. SLE, rheumatoid arthritis, rheumatic fever, sarcoidosis .

Sign and Symptoms

Manifestations of myocarditis range from asymptomatic or nonspecific generalised illness to acute

cardiogenic shock and sudden death

Infants and young children more often have a fulminant presentation with:

- Fever

- Respiratory distress

- Tachycardia, hypotension, gallop rhythm, and cardiac murmur

- Associated findings may include a rash or evidence of end organ involvement such as
hepatitis or aseptic meningitis

If inflammation is severe, it can lead to heart failure.

If inflammation resolves, heart contraction can return to normal

Occasionally if inflammation is really severe, it can cause fibrosis(scar tissue)

Diagnosis:

1) ECG: ECG changes are nonspecific and may include sinus tachycardia, atrial or ventricular
arrhythmias, heart block, diminished QRS voltages, and nonspecific ST and T-wave changes.

2) Chest X ray – reveals cardiomegaly, pulmonary vascular prominence, pulmonary edema, or

pleural effusions.

3) Echocardiography: Mostly shows diminished ventricular systolic function, cardiac chamber

enlargement, mitral insufficiency, and occasionally pericardial effusion.

4) Endomyocardial biopsy: May be useful in identifying inflammatory cell infiltrates or myocyte

damage.

5) MRI

The treatment of myocarditis in pediatrics depends on the underlying cause and the severity of the
symptoms. In some cases, the condition may resolve on its own with supportive care, such as rest
and careful monitoring of heart function. In more severe cases, hospitalization may be necessary for
treatment with medications to control inflammation and prevent heart failure. In rare cases, surgery
or heart transplant may be needed.
Prevention of myocarditis in pediatrics includes proper hygiene practices to prevent the spread of
viral infections, such as washing hands frequently and avoiding close contact with people who are
sick. Vaccinations against viral infections that can cause myocarditis, such as the flu and the measles,
mumps, and rubella (MMR) vaccine, are also recommended.

The prognosis of symptomatic myocarditis:

- In new borns is poor and 75% mortality. Better for children and adolescents

72. Cardiomyopathies

Cardiomyopathies are a group of heart conditions that affect the structure and function of the heart
muscle. In pediatrics, there are three main types of cardiomyopathy: dilated, hypertrophic, and
restrictive.

Dilated(congestive) cardiomyopathy is the most common type in pediatrics and occurs when the
heart muscle becomes weakened and enlarged, which can lead to heart failure. It may be caused by
genetic factors, viral infections, or exposure to toxins.

Hypertrophic cardiomyopathy is less common but can be more serious, as it causes the heart muscle
to thicken and stiffen, making it harder for the heart to pump blood. It is often inherited and can
lead to sudden cardiac arrest.

Restrictive cardiomyopathy is rare and occurs when the heart muscle becomes stiff and less elastic,
making it difficult for the ventricular filling with blood. It may be caused by genetic factors,
connective tissue disorders, or radiation therapy. It is sometimes seen in the Löffl er
hypereosinophilic syndrome (multisystem disorder of skin, lungs, nervous system, and liver) and
results in endocardial fi brosis of the AV valves and the ventricles. Prognosis is poor and cardiac
transplantation often required.

Symptoms of cardiomyopathy in pediatrics may include fatigue, weakness, shortness of breath,

chest pain, palpitations, and fainting. Diagnosis may involve a physical exam, electrocardiogram
(ECG), echocardiogram (ultrasound of the heart), or cardiac MRI. In some cases, a biopsy of heart
tissue may be needed.

Treatment of cardiomyopathy in pediatrics depends on the type and severity of the condition. It may
include medications to improve heart function, such as beta-blockers or ACE inhibitors, as well as
lifestyle changes, such as reducing salt intake or avoiding strenuous activity. In some cases, surgery
or heart transplant may be necessary.

Prevention of cardiomyopathy in pediatrics includes identifying and treating any underlying

conditions or risk factors, such as genetic disorders or viral infections. Regular check-ups with a
pediatrician or cardiologist can also help detect and monitor any changes in heart function.

73. Heart failure

Heart failure in pediatrics is a condition in which the heart is unable to pump enough blood to meet
the body's needs. May be manifested by symptoms of poor tissue perfusion alone (e.g. fatigue, poor
exercise tolerance, confusion) and/or by symptoms of congestion of circulation (e.g. dyspnea,
pleural effusion, pulmonary edema, hepatomegaly, peripheral oedema), without evoking
compensatory mechanisms.
The underlying pathophysiology mechanisms that lead to compromise of cardiac stroke volume,
cardiac decompensation, and heart failure include:

o Increased afterload(pressure work)

o Increased preload(volume work)

o Myocardial abnormalities

o Tachyarrhythmias

Causes: In children the most common cause of heart failure is congenital structural defects of the
heart.

-Large left to right shunt

-Endocarditis
-Tachyarrhythmias: supraventricular tachycardia
-Acute hypertension
-Left-sided obstructive lesions- coarctation of aorta
-Cardiomyopathy: hypertrophic; dilated; restrictive

Other causes: viral infections

The symptoms of heart failure in pediatrics may include fatigue, shortness of breath,lung
crepitations, coughing, and swelling in the legs, ankles, or feet. Infants may also have difficulty
feeding or sweating during feeding. Hepatomegaly, cardiomegaly, tachycardia/’gallop’ heart rhythm

Diagnosis of heart failure in pediatrics typically involves:

- a physical exam,

- Chest radiograph:
Cardiac enlargement
Lungs- oligaemic/edema
- echocardiogram: congenital heart defects

- Serum electrolytes: hyponatremia due to water retention

- Electrocardiogram (ECG).

- Blood tests may also be performed to check for signs of infection or inflammation.

Treatment for heart failure in pediatrics typically involves a combination of medications and lifestyle
changes. Medications may include diuretics to help reduce fluid buildup in the body, angiotensin-
converting enzyme (ACE) inhibitors to improve heart function, and beta-blockers to slow the heart
rate. In some cases, surgery or a heart transplant may be necessary.

Prevention of heart failure in pediatrics includes identifying and treating any underlying conditions,
such as congenital heart defects, as early as possible. Good prenatal care, including regular check-
ups and monitoring, can also help prevent complications that may lead to heart failure later in life. It
is important for parents to be aware of the signs and symptoms of heart failure in pediatrics, and to
seek medical attention promptly if they suspect their child may be experiencing any symptoms.
74. Pericarditis

Pericarditis in pediatrics is a condition in which the pericardium becomes inflamed. It may be 1˚ or a

manifestation of more generalised illness. The principal causes of pericardial inflammation are:
-Infections:
o Viral e.g. coxsackie B, EBV
o Bacterial e.g. streptococcus, mycoplasma
o TB
o Fungal e.g. histoplasmosis
o Parasitic e.g. toxoplasmosis
-Connective tissue:
o Rheumatoid arthritis
o Rheumatic fever
o SLE
o Sarcoidosis
-Metabolic
o Hyperuricaemia
o Hypothyroidism
-Malignancy
-Radiotherapy

Clinical features: The predominant symptom is precordial pain that is typically sharp, exacerbated
and exaggerated by lying down, and relieved by sitting or leaning forward. The pain is often referred
to the left shoulder. Other symptoms: cough, dyspnea and fever. In infants, symptoms may include
irritability, poor feeding, dyspnea

The accumulation of sufficient fluid to cause cardiac tamponade and heart failure is rare

Examination:
Specific diagnostic findings will relate to the amount of fluid within the pericardial sac, including
pulsus paradoxus, pericardial rub, quiet/distant heart sounds.

Investigation:
Diagnosis of pericarditis in pediatrics typically involves a physical exam, chest X-ray, ECG(typical low
voltage QRS complexes), and echocardiogram. Blood tests may also be performed to check for signs
of infection or inflammation.

Other investigations should be directed at identifying the underlying cause of the pericarditis and
will include: pericardiocentesis, bacterial/viral culture and biochemical analysis; blood serology for
viral studies, ASOT, and connective tissue disease.

Treatment:

In pediatrics typically involves medications to reduce inflammation and relieve symptoms.

Nonsteroidal anti-inflammatory drugs (NSAIDs) or corticosteroids may be prescribed to reduce
inflammation and relieve pain. If the pericarditis is caused by a bacterial infection, antibiotics may be
prescribed. In severe cases, pericardial drainage (pericardiocentesis) may be necessary.

Constrictive pericarditis
Previous pericardial inflammation may predispose to this condition. However, most cases of
constrictive pericarditis occur in the absence of any preceding illness or generalised systemic
disease. The fibrosed restrictive pericardium impairs cardiac contractility.

Clinical features heart failure, hepatomegaly, neck and vein distention. On auscultation heart sounds
are distant and a characteristic pericardial ‘knock’ is often heard. CXR may reveal calcification of the
pericardium.

Treatment requires pericardiectomy

Prevention of pericarditis in pediatrics includes practicing good hygiene to reduce the risk of viral
and bacterial infections. Be aware of the signs and symptoms of pericarditis in pediatrics, and to
seek medical attention if pericarditis suspected.

75. Proteinuria and hematuria

Proteinuria is the presence of excess protein in a child's urine. Normally, only a small amount of
protein is excreted in the urine, but when the kidneys are not functioning properly, larger amounts
of protein can be lost in the urine.

Proteinuria in pediatrics can be a sign of an underlying medical condition, such as a kidney infection,
glomerulonephritis, or nephrotic. It can also be a side effect of certain medications, such as
nonsteroidal anti-inflammatory drugs (NSAIDs).

Causes:

Proteinuria may be due to benign or pathological causes

Non-pathological proteinuria

- Transient

- Fever

- Exercise

- UTI

- Orthostatic proteinuria(postural proteinuria). There is usually no history of significance and a

normal examination. Investigations reveal a normal UP:UCr ratio in early morning urine with
elevated level in afternoon specimen (may require two 12 hour collections). Requires no
treatment

Pathological(persistent) proteinuria

This may be seen in a number or renal disorders including:

-Nephrotic syndrome
-Glomerulonephritis
-CKD
-Tubular interstitial nephritis
Symptoms of proteinuria in pediatrics may include foamy urine, swelling of the face or other parts
of the body, fatigue, and loss of appetite. In some cases, there may be no symptoms at all.

Diagnosis of proteinuria in pediatrics involves:

- urinalysis(involves dipstick test ) to detect albumin in the urine. It is less sensitive for some
forms of proteinuria

- Urinary protein: creatinine ratio (UP:UCr)- collection of an early morning urine specimen for
measurement of the urinary protein to creatinine ratio.Normal < 20mg/mmol

- 24h urinary protein excretion: Requires a 24hr collection of urine to estimate urinary protein
excretion.

 Normal:< 30mg/24hr

 Microalbuminuria: 30-300mg/24hr

 Proteinuria:>300mg/24hr

If proteinuria is detected, further tests may be ordered to determine the underlying cause.

Treatment of proteinuria in pediatrics depends on the underlying cause. In cases where proteinuria
is caused by a kidney infection, antibiotics may be prescribed. In cases of glomerulonephritis or
nephrotic syndrome, medications may be prescribed to reduce inflammation and decrease protein
loss in the urine. In some cases, dietary changes may also be recommended.

Early detection and treatment can help prevent complications and improve outcomes.

Hematuria in pediatrics refers to the presence of red blood cells in a child's urine, which can give the
urine a pink, red, or brown color. It may be visible to naked eye or be microscopic and detected only
by dipstick testing or by microscopy.

Causes:

-Urinary tract infections:

o Bacterial
o Viral e.g. adenovirus
o Schistosomiasis
o Tuberculosis
-Glomerular:
o Post-infectious glomerulonephritis
o Henoch-schonlein purpura IgA nephropathy, SLE
o Hereditary- thin basement membrane- Alport’s syndrome
-Urinary tract stones
-Trauma
-Drugs

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
 - Hemoglobinura/myoglobinura

- Foods- colouring (e.g. beetroot)

- Drugs (e.g. rifampicin)

- External source (e.g.menstrual blood losses)

- Urate crystals (in young infants, usually pink nappies)

- Fictitious (consider if no cause found)

In some cases, hematuria in pediatrics may be accompanied by other symptoms, such as pain or
discomfort during urination, abdominal pain, or fever. However, in many cases, hematuria may be
asymptomatic and only detected through a urine test.

Diagnosis of hematuria in pediatrics involves a urine test to measure the amount of red blood cells
in the urine. If hematuria is detected, further tests may be ordered to determine the underlying
cause, such as blood tests, imaging tests (such as an ultrasound or CT scan), or a kidney biopsy.

Treatment of hematuria in pediatrics depends on the underlying cause. In cases where hematuria is
caused by an infection, antibiotics may be prescribed. In cases of kidney stones or other
obstructions, procedures may be required to remove the obstruction. In some cases, no treatment
may be necessary if the hematuria is caused by a benign condition that resolves on its own.

It is important for parents to be aware of the signs and symptoms of hematuria in pediatrics, and to
seek medical attention if they suspect their child may be experiencing any symptoms. Early detection
and treatment can help prevent complications and improve outcomes.

76. Infections of the urinary tract

Urinary tract infections (UTIs) are common infections in pediatrics, and they occur when bacteria
enter the urinary tract and cause an infection. UTIs can occur in any part of the urinary system,
including the bladder, kidneys, ureters, and urethra.

Urinary tract infections (UTIs) in pediatrics can be categorized into two main types:

- Lower UTI: This type of UTI involves the bladder and urethra and is also known as cystitis.
Children with lower UTI often experience symptoms such as painful and frequent urination,
foul-smelling urine, and abdominal pain. In younger children, symptoms may include fever,
vomiting, and irritability.

- Upper UTI: This type of UTI involves the kidneys and is also known as pyelonephritis.
Children with upper UTI may experience symptoms such as high fever, back pain, vomiting,
and general malaise. They may also have symptoms similar to those of a lower UTI, such as
painful and frequent urination.

UTIs in pediatrics can also be classified as complicated or uncomplicated, depending on whether the
child has any underlying medical conditions or anatomical abnormalities that may affect the course
of the infection and the choice of treatment. Additionally, UTIs in pediatrics can be classified as
recurrent if a child experiences two or more UTIs within a six-month period or three or more UTIs
within a year.
In pediatrics, UTIs are more common in girls than in boys, and they can occur at any age. Symptoms
of UTIs in pediatrics may include:

 Pain or burning during urination

 Frequent urination

 Urgent need to urinate

 Bedwetting in a child who has previously been dry at night

 Foul-smelling or cloudy urine

 Abdominal or lower back pain

 Fever

Diagnosis of UTIs in pediatrics involves a physical exam, urine tests, and sometimes imaging tests to
determine the location and extent of the infection.

Treatment of UTIs in pediatrics typically involves antibiotics, and the length and type of treatment
will depend on the child's age, the location and severity of the infection, and the type of bacteria
causing the infection.

Prevention of UTIs in pediatrics can be achieved through good hygiene practices, such as wiping
from front to back after using the toilet, encouraging frequent urination, drinking plenty of fluids,
and avoiding tight-fitting pants or underwear. It is important for parents and caregivers to be aware
of the signs and symptoms of UTIs in pediatrics and to seek medical attention if they suspect their
child may have a UTI.

77. Nephrotic syndrome

This is defined as a combination of:

- Heavy proteinuria

- Hypoalbuminemia

- Oedema

- Hyperlipidemia

Primary

-congenital

-infantile

Secondary

-Minimal change disease(MCD)

-Focal segmental glomerulosclerosis(FSGS)

 -Membranoproliferative glomerulonephritis(MPGN)

-Membranous glomerulonephritis(MGN)

Classification

Nephrotic syndrome can be clinically classified as being either steroid-sensitive(SS), steroid

dependent or steroid resistant(SR). The majority of MCD is SS.

-MCD(SS)>95%
-FSGS(SS) 20%
-MPGN (SS) 55%

Symptoms

Most children present with insidious onset of edema, which is initially periorbital but becoming
generalised with pitting edema. Periorbital edema is most noticeable in morning on rising. Ascites
and pleural effusions may develop.

Decreased urine output, fatigue, and loss of appetite. In severe cases, the child may also experience
difficulty breathing and excessive fluid buildup in the lungs.

The diagnosis of nephrotic syndrome involves several steps.

The first step is usually a physical examination, which may reveal signs of fluid retention, such as
swelling in the legs, ankles, and feet. The doctor may also listen to the patient's heart and lungs to
check for any signs of fluid buildup in those areas.

The next step is to perform some laboratory tests, including a urinalysis to check for the presence of
protein in the urine. In nephrotic syndrome, there is typically a significant amount of protein in the
urine, which may be visible as foamy or frothy urine.

Blood tests may also be done to check for low levels of protein in the blood and elevated levels of
cholesterol and triglycerides. If the initial tests suggest that the patient may have nephrotic
syndrome, the doctor may perform a kidney biopsy to confirm the diagnosis.

During a kidney biopsy, a small sample of kidney tissue is removed and examined under a
microscope to look for any signs of damage or disease. In some cases, additional tests may be
necessary to determine the underlying cause of the nephrotic syndrome. These may include blood
tests to check for autoimmune disorders or infections, imaging tests to look for signs of kidney
damage or abnormalities, or genetic testing to identify any inherited conditions that may be causing
the condition.

Treatment of nephrotic syndrome in children may include medications, such as corticosteroids, to

reduce inflammation and prevent further damage to the kidneys. Other medications, such as
diuretics, may be used to reduce swelling and increase urine output. In some cases,
immunosuppressive drugs may be necessary to treat the underlying cause of the condition.

In addition to medical treatment, children with nephrotic syndrome may need to follow a low-salt
diet, restrict fluid intake, and avoid contact with others who have infections, as they may be more
susceptible to infection due to the weakened immune system. Regular monitoring of kidney function
and protein levels in the urine may also be necessary to manage the condition.
78. HEMOLYTIC UREMIC SYNDROME
Hemolytic-uremic syndrome consists of the triad of microangiopathic haemolytic anaemia,
thrombocytopenia, and acute renal failure.
Pathophysiology
STEC-HUS is usually preceded by a colitis caused by Shiga toxin–producing Escherichia
coli (STEC). Subsequent inflammation of the colon facilitates systemic absorption of the Stx
and lipopolysaccharide from the GI tract. The major toxins that cause hemolytic-uremic
syndrome, Shiga toxin 1 (Stx1) and Shiga toxin 2 (Stx2), are similar in structure to the classic
Stx. These toxins bind to globotriaosylceramide (Gb3), a glycolipid receptor molecule on the
surface of endothelial cells in the gut, kidney, and, occasionally, other organs. Differential
expression of Gb3 on glomerular capillaries compared with other endothelial cells may
explain the predominance of renal injury. Damaged endothelial cells of the glomerular
capillaries release vasoactive and platelet-aggregating substances. The endothelial cells
swell, and fibrin is deposited on the injured vessel walls.
Swelling and microthrombi formation within the glomerular capillaries produce a localized
intravascular coagulopathy. The glomerular filtration rate is reduced, and renal insufficiency
ensues. Erythrocytes are damaged and fragmented as they traverse the narrowed
glomerular capillaries. This leads to the characteristic microangiopathic hemolytic anemia.
Hemolysis may also be a result of lipid peroxidation.
Thrombocytopenia is believed to result from a combination of platelet destruction,
increased consumption, sequestration in the liver and spleen, and intrarenal aggregation.
Platelets are damaged as they pass through the affected glomerular capillaries. Remaining
platelets circulate in a degranulated form and show impaired aggregation. Stx also binds to
activated platelets.
Etiology
STEC-HUS
GI tract infection with Stx–producing E coli (STEC) precedes most cases of STEC-HUS. Stx1 is
identical to the Stx produced by Shigella dysenteriae. They injure the gut and lead to
hemorrhagic colitis.
Other causes of hemolytic-uremic syndrome include infection by the following:
 S dysenteriae (established as an etiologic agent)
 Salmonella typhi (established as an etiologic agent)
 Campylobacter jejuni (established as an etiologic agent)
 Yersinia species
 Pseudomonas species
 Bacteroides species
  Entamoeba histolytica
 Aeromonas hydrophilia
 Organisms of the class Microtatobiotes
aHUS (atypical hemolytic uremic syndrome)
Causes of aHUS include the following:
 Inherited (e.g., mutations in the gene for factor H, a complement regulatory protein)
 S pneumoniae (neuraminidase-associated)
 Portillo virus
 Coxsackie virus
 Influenza virus
 Epstein-Barr virus
 Pregnancy: Hemolytic-uremic syndrome or thrombotic thrombocytopenic purpura
(TTP) are associated with pregnancy; preeclampsia and HELLP syndrome also have
features in common and should be part of the differential diagnosis.
 Drugs (e.g., chemotherapy, oral contraceptives, cyclosporine, tacrolimus)
 Bone marrow or hematopoietic stem cell transplantation
 Malignancy
 Idiopathic
 Systemic lupus erythematosus (SLE)
 Glomerulonephritis, especially membranoproliferative glomerulonephritis
 Malignant hypertension
History
Patients with Shiga toxin–producing E coli hemolytic-uremic syndrome (STEC-HUS) typically
experience

 several days of diarrhea, with or without vomiting,

 followed by sudden onset of symptoms such as irritability and pallor.
 In more than 80% of patients, the diarrhea is visibly bloody.
Other symptoms include;

 Restlessness
 Oliguria
 Edema
 macroscopic hematuria.
In some patients, the prodrome may improve as hemolytic-uremic syndrome symptoms
begin. The clinical picture may mimic that of an acute abdomen.
The history should include inquiry about possible recent exposure to E coli, such as
consuming undercooked meat, encounters with livestock or petting zoos, contacts with
other persons with diarrhea, and attendance at day-care or school. However, most cases of
STEC-HUS are sporadic, with no clearly identifiable source of infection, even when stool
culture yields a toxigenic organism. Outbreaks involving multiple persons more commonly
lead to a source.
Physical Examination
Blood pressure may be elevated unless the patient is volume depleted (e.g., from diarrhea).
The child appears ill and pale. Abdominal pain and tenderness may be present, possibly
severe. Peripheral edema may be present. Petechiae, purpura, or oozing from venipuncture
sites may be present.
Workup


WBC differential may reveal a left shift (ie, immature WBCs, including bands,
myelocytes, metamyelocytes). Patients with Shiga toxin–producing E coli hemolytic-
uremic syndrome (STEC-HUS) may have extremely high WBC counts, in the range of
50,000-60,000/µL.
 Coombs test results are negative, except with S pneumoniae –associated hemolytic-
uremic syndrome.
 Reticulocyte count is elevated.
 Levels of serum haptoglobin, which binds hemoglobin, are decreased.
 Prothrombin time (PT) and activated partial thromboplastin time (aPTT) are normal.
 Fibrin degradation products are increased.
 Fibrinogen levels are increased or within reference range.
 Serum chemistry testing; BUN( blood urea nitrogen) and creatinine levels are
elevated.
Various electrolyte and ion derangements may be present because of vomiting, diarrhea,
dehydration, and renal failure; these may include;
o Hyponatremia
o Hyperkalemia
o Hyperphosphatemia
o Hypocalcemia
o Acidosis
o Phosphorus concentration is elevated.
Uric acid level may be increased because of acute renal failure, dehydration, and cell
breakdown.
Protein (see Serum Protein Electrophoresis) and albumin levels may be mildly decreased.
Bilirubin and aminotransferase (see Alanine Aminotransferase and Aspartate
Aminotransferase) levels are typically elevated.
Lactate dehydrogenase (LDH) level is elevated. Serial measurements of LDH help track the
approximate level of hemolytic activity.
Urinalysis
Urinalysis should be performed to assess the following:
 Protein
 Heme
 Bilirubin
 RBCs (dysmorphic)
 WBCs
 Casts - Cellular, granular, pigmented, hyaline
Stool testing
Usually, culture yield is low after 7 days of diarrhea. The standard method used to detect
and isolate STEC involves sorbitol MacConkey (SMAC) agar plates that enable identification
of characteristic sorbitol nonfermenting colonies of STEC
Imaging Studies
 Consider performing chest radiography to evaluate for pulmonary congestion or
edema, if clinically indicated.
 Renal ultrasound typically reveals nonspecific findings (eg, increased echogenicity)
and is of limited use.
 Ultrasonography may be helpful if the diagnosis is uncertain or if one needs
evaluation of blood flow in the large renal vessels.
 Abdominal ultrasonography or CT scanning may help if clinical findings raise
suspicion of intestinal obstruction or perforation.
 Non-contrast CT scanning or MRI of the head is indicated in patients with CNS
symptoms or acute mental status changes.
 Avoid iodinated contrast or gadolinium in patients with decreased renal function.
Management
Management includes good control of volume status, electrolyte abnormalities,
hypertension, and anemia. Correct identification of the subtype of HUS is critical to selecting
appropriate treatment. Supportive medical care is the mainstay of treatment of hemolytic-
uremic syndrome.
79. IgA NEPHRITIS/NEPHROPATHY
Immunoglobulin A (IgA) nephropathy is characterized by predominant IgA deposition in the
glomerular mesangium. It is one of the most common causes of glomerulonephritis in the
world.
Pathologically, a spectrum of glomerular lesions can be seen, but mesangial proliferation
with prominent IgA deposition is observed in almost all biopsies.
Although IgA nephropathy is a limited non-systemic renal disease, many systemic illnesses
are sporadically associated with mesangial IgA deposition. Henoch-Schönlein purpura (HSP),
a systemic illness, has been closely linked to IgA nephropathy. Other systemic diseases in
which mesangial deposits of IgA are regularly observed include systemic lupus
erythematosus, hepatitis, dermatitis herpetiformis, and ankylosing spondylitis.
Pathophysiology
IgA nephropathy appears to result from an ordered sequence of events, starting with
galactose-deficient IgA1, which contains less than a full complement of galactose residues
on the O-glycans in the hinge region of the heavy chains. These may act as auto-antigens
that trigger the production of glycan-specific autoantibodies and the formation of circulating
immune complexes that are deposited in renal mesangium. These then induce glomerular
injury through pro-inflammatory cytokine release, chemokine secretion, and the resultant
migration of macrophages into the kidney. Immune complexes formed by IgG or IgA
antibodies with galactose-deficient IgA lead to deposition in the glomerulus.
History
Patients with IgA nephropathy may be asymptomatic, with persistent microscopic
hematuria and proteinuria and often hypertension. This presentation occurs mostly in
adults. Impairment of renal function can occur in such cases, and remission is uncommon.
Symptomatic presentations in patients with IgA nephropathy include the following:
 Episodic gross hematuria
 Rapidly progressive glomerulonephritis – This is sometimes seen as a late
presentation; these patients may progress to needing renal replacement therapy
rapidly.
 Proteinuria- less than 3 gms/day. (More common)
 Nephrotic syndrome – More than 3.5 gms of proteinuria with edema,
hypoalbuminemia, hypertension, and hyperlipidaemia.
 Chronic renal failure
Episodic gross hematuria from IgA nephropathy has the following features:
 Eighty percent of these episodes are associated with upper respiratory tract
infections, mainly acute pharyngotonsillitis; this synchronous association of
pharyngitis and macroscopic hematuria has been dubbed synpharyngitic nephritis.
  Gross hematuria usually appears simultaneously or within the first 48-72 hours after
the infection begins; persists less than 3 days; and, in about a third of patients, is
accompanied by loin pain, presumably due to renal capsular swelling
 Seen mostly in children and young adults
 These patients have a high likelihood of remission.
Physical
Physical examination findings in patients with IgA nephropathy are usually unremarkable. A
minority of patients present with hypertension. More commonly, however, hypertension
manifests later in the course of the disease or when patients develop chronic kidney disease
and end-stage renal disease (ESRD). Nephrotic syndrome could manifest as edema in lower
extremities.
Causes
Most cases of IgA nephropathy are idiopathic, but the onset or exacerbation of the disease
is often preceded by a respiratory tract infection. Association with some bacteria, such as
Haemophilus parainfluenzae, has been reported.
Diagnosis
The first step in confirming the diagnosis is a careful urinalysis of a first-void urine sample
performed by an experienced urine analyst. Direct examination of the urine sediment is
required to identify red blood cells (RBCs) and RBC casts, both of which indicate glomerular
injury.
Proteinuria testing can be accomplished quantitatively by a 24-hour measurement of urinary
protein or semi quantitatively by measuring a urine protein/creatinine ratio. A normal ratio
should be less than approximately 0.1. Also, adults older than 50 years with proteinuria
should have a urine protein electrophoresis performed to exclude monoclonal light chains
as a cause of proteinuria.
Assess renal function in patients with proteinuria or hematuria by a 24-hour creatinine
clearance test. Alternatively, the glomerular filtration rate (GFR) can be estimated using the
Modification of Diet in Renal Disease (MDRD) formula or CKD-EPI.
Although the serum IgA level is elevated in up to half of patients, this finding is insensitive,
nonspecific, and of no clinical utility
Diagnosis of IgA nephropathy should be confirmed by renal biopsy.
Management
The treatment of IgA nephropathy in any individual patient should be tailored to that
patient's presentation, given the conflicting results of many studies of this disease. All
patients should be given supportive therapy to control hypertension and proteinuria,
including renin-angiotensin system blockade and dietary sodium restriction. Tonsillectomy is
appropriate only for patients with recurrent tonsillar infections.
General recommendations include the following:
 In patients with isolated hematuria (ie, without proteinuria or hypertension) monitor
with urinalysis, renal function testing, and blood pressure measurement.
 Treat hypertension early and aggressively with renin-angiotensin blockade; a
reasonable goal is a blood pressure of 130/80 mm Hg if proteinuria is < 1g/day. If
proteinuria is > 1 g/day, then 125/75 mm Hg should be the goal.
 Steroids are most beneficial if more than 1 g of proteinuria is present in a 24-hour
urine specimen.
 If UPCR (urinary protein to creatinine ratio) is persistently 0.75-1.5 g/day, the short-
term benefits of steroid use remain uncertain.
 The presence of crescents on biopsy in a sample with more than 10 glomeruli is an
indication for treatment with cyclophosphamide.

80. ACUTE POST-STREPTOCOCCAL GLOMERULONEPHRITIS

Acute glomerulonephritis is a disease characterized by the sudden appearance of edema,
hematuria, proteinuria, and hypertension. It is a representative disease of acute nephritic
syndrome in which inflammation of the glomerulus is manifested by proliferation of cellular
elements secondary to an immunologic mechanism.
Acute poststreptococcal glomerulonephritis (APSGN) results from an antecedent infection of
the skin (impetigo) or throat (pharyngitis) caused by nephritogenic strains of group A beta-
hemolytic streptococci.
Acute poststreptococcal glomerulonephritis occurs predominantly in males and often
completely heals, whereas patients with rheumatic fever often experience relapsing attacks.
The exact mechanism by which APSGN occurs remains to be determined. The 2 most widely
proposed theories include (1) glomerular trapping of circulating immune complexes and (2)
in situ immune antigen-antibody complex formation resulting from antibodies reacting with
either streptococcal components deposited in the glomerulus or with components of the
glomerulus itself, which has been termed “molecular mimicry.”
Typically, an acute nephritic syndrome develops 1-2 weeks after an antecedent
streptococcal pharyngitis, whereas a lapse of 3-6 weeks is common before a nephritic
syndrome develops following streptococcal pyoderma.
Asymptomatic versus symptomatic presentation
At one extreme is the asymptomatic child whose disease is discovered only by examination
of the urine. Based on surveillance studies of the siblings and/or household contacts of
children affected with acute poststreptococcal glomerulonephritis (APSGN), at least 50% of
persons with laboratory evidence of nephritis (ie, abnormal urinalysis) appear to have no
symptoms or signs of clinical illness.
At the other extreme is the child who presents with severe disease manifested by oliguria,
edema, hypertension, and azotemia and with proteinuria, hematuria, and urinary casts
(cylindruria).
Diagnosis

 Erythropoiesis may decline in the aftermath of acute glomerulonephritis, particularly

in individuals with severe cases. A mild anemia (normocytic, normochromic) is
common in persons in the early phase of acute glomerulonephritis; its degree tends
to parallel the degree of extracellular fluid (ECF) volume expansion.
 White blood cell (WBC) and platelet counts are usually normal, although an
occasional patient exhibits a leukocytosis;
 rarely, a mild thrombocytopenia may be present.
 A few patients have hypoproteinemia and hyperlipidemia.
 A nephrotic picture has been reported in approximately 5% of hospitalized patients
with poststreptococcal acute glomerulonephritis (APSGN)
 Urine output is most often reduced in acute glomerulonephritis, and the urine is
concentrated and acidic.
 Glucosuria occurs occasionally
 proteinuria is commonly present.
 Proteinuria rarely exceeds 3+ by dipstick, corresponding to fewer than 2 g/m2/d
when assessed quantitatively. Approximately 2-5% of children with acute
poststreptococcal glomerulonephritis (APSGN) have massive proteinuria and a
nephrotic picture.
 Hematuria is the most consistent urinary abnormality, although histologic findings
consistent with acute poststreptococcal glomerulonephritis (APSGN) have been
reported in children who had no or minimal urinary abnormalities.
 Polymorphonuclear leukocytes and renal epithelial cells are common in the urine of
patients with poststreptococcal acute glomerulonephritis, particularly during the
early phase of the disease. In addition, hyaline and/or cellular casts are almost
always present.
 Red blood cell casts have been found in 60-85% of hospitalized children with APSGN.
These casts, although characteristic of a glomerular lesion, are often not detected,
because the urine is not fresh or is examined by an inexperienced person.
 Look for evidence of streptococcal infection in all patients. Cultures from either the
pharynx or skin may be positive; however, high streptococcal antibody titers are
more compelling. Numerous laboratory tests can be used to measure antibodies to
various streptococcal antigens (eg, antistreptolysin O [ASO], antihyaluronidase [AH],
anti-DNase B) or to combinations of antigens (eg, streptozyme test). Whichever test
is used, a rise in the titer of the antibody, measured at an interval of 2-3 weeks, is
more meaningful than a single measurement. An ASO titer of 250 U or higher is
highly suggestive of recent streptococcal infection.
 Total hemolytic complement and some of its components are low during acute
poststreptococcal glomerulonephritis (APSGN). The concentration of C3 has been
 found to be decreased in more than 90% of patients with this disease when
measured serially during the first 2 weeks of the illness. Total hemolytic complement
values are also depressed. These tests help to differentiate poststreptococcal from
other postinfectious forms of acute glomerulonephritis. The complement levels
generally return to normal by 6-8 weeks after onset.
Management
By the time the child with acute poststreptococcal glomerulonephritis (APSGN) presents
with symptoms, the glomerular injury has already occurred, and the healing process has
begun. Thus, influencing the ultimate course of the disease by any specific therapy directed
at the cause of the nephritis is not possible. Conversely, morbidity and early mortality are
influenced considerably by appropriate medical therapy. Even then, treatment is usually
supportive and directed toward the potential complications.
Only a small percentage of patients with acute glomerulonephritis require initial
hospitalization, and most of those are ready for discharge in 2-4 days. As soon as the blood
pressure (BP) is under relatively good control and diuresis has begun, most children can be
discharged and monitored as outpatients.
A low-sodium, low-protein diet should be prescribed during the acute phase, when edema
and hypertension are in evidence; however, prolonged dietary restrictions are not
warranted. Limitation of fluid and salt intake is recommended in the child who has either
oliguria or edema. Curtailment of fluid to amounts consistent with insensible losses helps to
minimize vascular overload and hypertension. In patients with oliguric acute kidney injury,
potassium intake should be restricted to prevent hyperkalemia.
Limited activity is probably indicated during the early phase of the disease, particularly if
hypertension is present. Bedrest may lessen the degree and duration of gross hematuria if
present; however, longer periods of bedrest do not appear to influence the course or long-
term prognosis; therefore, they are generally not recommended.

81. ARTERIAL HYPERTENSION IN CHILDREN

Blood pressure (BP) is determined by the balance between cardiac output and vascular
resistance. A rise in either of these variables, in the absence of a compensatory decrease in
the other, increases mean BP, which is the driving pressure.
Factors that affect cardiac output include the following:
 Baroreceptors
 Extracellular volume
 Effective circulating volume - Atrial natriuretic hormones, mineralocorticoids,
angiotensin
 Sympathetic nervous syndrome
Factors that affect vascular resistance include the following:
  Pressors - Angiotensin II, calcium (intracellular), catecholamines, sympathetic
nervous system, vasopressin
 Depressors - Atrial natriuretic hormones, endothelial relaxing factors, kinins,
prostaglandin E2, prostaglandin I2

Etiology
 Hypertension can be primary (ie, essential) or secondary. In general, the younger the
child and the higher the blood pressure (BP), the greater the likelihood that
hypertension is secondary to an identifiable cause (see Table 2 below). A secondary
cause of hypertension is most likely to be found before puberty; after puberty,
hypertension is likely to be essential.
 Table 2. Common Causes of Hypertension by Age
Children
Infants Adolescents
1-6 y 7-12 y

 Thrombosis of  Renal artery  Renal  Essential

renal artery or stenosis parenchymal hypertensi
vein  Renal disease on
 Congenital renal parenchymal  Renovascular  Renal
anomalies disease abnormalities parenchy
 Coarctation of  Wilms tumour  Endocrine mal
aorta  Neuroblastoma causes disease
 Bronchopulmon  Coarctation of  Essential  Endocrine
ary dysplasia aorta hypertension causes

 A review of the literature revealed that most of the young patients with secondary
hypertension had a renal parenchymal abnormality; in the remaining patients, the
causes of hypertension (in order of frequency) were renal artery stenosis,
coarctation of the aorta, pheochromocytoma, and a variety of other conditions.

History
A well-taken history provides clues about the cause of hypertension and guides the
selection and sequencing of ensuing investigations. Presenting symptoms and signs are not
specific in neonates and are absent in most older children unless the hypertension is severe.
Relevant information includes the following:
 Prematurity
 Bronchopulmonary dysplasia
 History of umbilical artery catheterization
 Failure to thrive
 History of head or abdominal trauma
 Family history of heritable diseases (eg, neurofibromatosis, hypertension)
  Medications (eg, pressor substances, steroids, tricyclic antidepressants, cold
remedies, medications for attention deficit hyperactivity disorder [ADHD])
 Episodes of pyelonephritis (perhaps suggested by unexplained fevers) that may
result in renal scarring
 Dietary history, including caffeine, liquorice, and salt consumption
 Sleep history, especially snoring history
 Habits, such as smoking, drinking alcohol, and ingesting illicit substances
Signs and symptoms that should alert the physician to the possibility of hypertension in
neonates include the following:
 Seizure
 Irritability or lethargy
 Respiratory distress
 Congestive heart failure
Signs and symptoms that should alert the physician to the possibility of hypertension in
older children include all of the above, as well as the following:
 Headache
 Fatigue
 Blurred vision
 Epistaxis
 Bell palsy

Physical Examination
A primary objective of the physical examination is to identify signs of secondary
hypertension. The following should be evaluated to assess for potential causes of the
hypertension:
 Body mass index may lead to an evaluation for metabolic syndrome
 Tachycardia may indicate hyperthyroidism, pheochromocytoma, and neuroblastoma
 Growth retardation may suggest chronic renal failure
 Café au lait spots may point to neurofibromatosis
 An abdominal mass may lead to an evaluation for Wilms tumor and polycystic kidney
disease
 Epigastric or abdominal bruit may lead to the diagnosis of coarctation of the
abdominal aorta or renal artery stenosis
  BP difference between the upper and lower extremities indicates coarctation of the
thoracic aorta
 Thyromegaly may suggest hyperthyroidism
 Virilization or ambiguity may suggest adrenal hyperplasia
 Stigmata of Bardet-Biedl, von Hippel-Lindau, Williams, or Turner syndromes
 Acanthosis nigricans may indicate metabolic syndrome

Diagnosis
Laboratory Studies
In patients with hypertension, proceed from simple tests that can be performed in an
ambulatory setting to complex non-invasive tests and finally to invasive tests. Findings from
the patient’s history and physical examination dictate the appropriate choice of tests.

 The complete blood cell (CBC) count may indicate anemia due to chronic renal
disease. Blood chemistry studies may be helpful. An increased
serum creatinine concentration indicates renal disease. Hypokalemia suggests
hyperaldosteronism (see potassium).
 Blood hormone levels may be measured. High plasma renin activity indicates renal
vascular hypertension, including coarctation of the aorta, whereas low activity
indicates glucocorticoid-remediable aldosteronism, Liddle syndrome, or apparent
mineralocorticoid excess. A high plasma aldosterone concentration is diagnostic of
hyperaldosteronism. High values of catecholamines (eg, epinephrine,
norepinephrine, or dopamine) are diagnostic of pheochromocytoma or
neuroblastoma.
 On urine dipstick testing (see urinalysis), a positive result for blood or protein
indicates renal disease. Urine cultures are used to evaluate the patient for chronic
pyelonephritis. High urinary excretion of catecholamines and catecholamine
metabolites (metanephrine) indicates pheochromocytoma or neuroblastoma. Urine
sodium levels reflect dietary sodium intake and may be used as a marker to follow a
patient after dietary changes are attempted.
 Fasting lipid panels and oral glucose-tolerance tests are performed to evaluate
metabolic syndrome in obese children. Drug screening is performed to identify
substances that might cause hypertension.
Echocardiography and Ultrasonography

 Left ventricular hypertrophy (LVH) results from chronic hypertension. The finding of
LVH on echocardiography confirms the chronicity of the hypertension and is an
absolute indication for starting or intensifying treatment. LVH is symmetric,
consisting of equivalent increases in in thickness for both the left ventricular portion
of the ventricular septum and the left ventricular posterior wall. Left ventricular
function must also be assessed.
  Echocardiography is essential in the evaluation of suspected aortic coarctation. The
aortic arch and its branches must be examined in precise anatomic detail. Doppler
sonographic interrogation of the aortic arch should include pulse Doppler sampling
from various portions of the aortic arch and continuous wave Doppler of the
descending aorta. These data are useful in quantitating the severity of aortic
obstruction.

 Abdominal ultrasonography may reveal tumors or structural anomalies of the

kidneys or renal vasculature. Renal scarring suggests excessive renin release.
Asymmetry in renal size suggests renal dysplasia or renal artery stenosis. Renal or
extrarenal masses suggest a Wilms tumor or neuroblastoma, respectively.

 On Doppler studies, asymmetry in renal artery blood flow suggests renal artery
stenosis.

Angiography
Angiography may reveal differences in the structure (diameter) of the renal vessels.
Sampling of blood from renal arteries, renal veins, and aorta may reveal differences in renin
secretion between the kidneys. A renin activity ratio of 3:1 between the kidneys is
considered diagnostic of renal vascular hypertension.
On digital subtraction arteriography, asymmetry between the 2 renal arteries indicates renal
artery stenosis.
Treatment and Management
To the extent possible, treatment of hypertension (see the image below) should address the
cause and correct it. It is essential to recognize remediable causes of hypertension,
especially coarctation of the aorta in a symptomatic infant. Reserve the therapeutic
modalities described below for those children who have irremediable causes of
hypertension or essential hypertension.
Management algorithm. AMC = Apparent mineralocorticoid excess; GRA = Glucocorticoid
remedial aldosteronism; VMA = Vanillylmandelic acid.
Nonpharmacologic measures are important in the treatment of all patients with
hypertension, regardless of its etiology or severity. Pharmacologic treatment is indicated in
some cases. Interventional cardiac catheterization procedures have been employed as well.
Surgery may be required for children with severe renal vascular hypertension, renal
segmental hypoplasia, coarctation of the aorta, Wilms tumor, or pheochromocytoma.
Nonpharmacologic Therapy
In children with mild or moderate hypertension, nonpharmacologic therapy may suffice to
lower blood pressure (BP) to within normal limits. This approach avoids the need for drugs
that have adverse effects and that require a degree of compliance difficult to achieve in
children.
 Weight reduction should be a goal in all overweight children with hypertension,
regardless of etiology. Obesity and hypertension are closely correlated, particularly
in adolescents.
 Aerobic and isotonic exercises have a direct beneficial effect on BP. They help in
reducing excess weight or maintaining appropriate body weight. Encourage
participation in sports. Only patients with severe uncontrolled hypertension or
cardiac abnormalities that require exercise restriction are exempt from aerobic and
isotonic exercises.
 Potassium supplementation can decrease BP and reduce ventricular hypertrophy in
adults. How potassium supplementation affects children with hypertension remains
to be determined. However, avoiding potassium depletion (eg, from diuretic
 therapy) and prescribing a potassium-rich diet in patients without renal insufficiency
appear reasonable.
 A low-fat diet is recommended for all patients with a high BP; a low-salt diet is also
recommended for all such patients, though it may yield only a 4% reduction of the
elevated pressure (see Dietary Measures). Stress-reducing activities (eg, meditation,
yoga, biofeedback) can reduce BP when performed on a regular basis. However, this
effect is lost when the activity is discontinued.
 When sleep-disordered breathing is discovered, weight loss, tonsillectomy and
adenoidectomy, or use of continuous positive airway pressure may improve the
patient’s sleep and secondarily improve BP.
Pharmacologic Therapy
Many of the antihypertensive agents available for adult use may also be used to manage
hypertensive children and adolescents, even though only limited data are available to
support this practice. Angiotensin-converting enzyme (ACE) inhibitors, angiotensin II
receptor blockers (ARBs), and calcium-channel blockers have the strongest data to support
their use in paediatric patients. Nevertheless, there is a need for more trials in paediatric
populations, especially comparative trials of different agents.
Indications for pharmacologic treatment include symptomatic hypertension, secondary
hypertension, hypertensive target-organ damage, diabetes, and hypertension that persists
despite nonpharmacologic measures.
Management of Hypertensive Crisis
Hypertensive crises occur as a result of an acute illness (eg, postinfectious
glomerulonephritis or acute renal failure), excessive ingestion of drugs or psychogenic
substances, or exacerbated moderate hypertension.
The clinical manifestations may be those of cerebral edema, seizures, heart failure,
pulmonary edema, or renal failure. Accurate assessment of blood pressure (BP) in every
patient presenting with a seizure is essential, particularly when no seizure disorder has been
established in that patient.
Anticonvulsant drugs are usually ineffective in treatment of a seizure due to a hypertensive
crisis. Seizures due to severe hypertension must be treated with a fast-acting
antihypertensive drug.
The following drugs are currently used in the treatment of hypertensive emergencies:
 Labetalol, 0.2-1 mg/kg/dose up to 40 mg/dose as an intravenous (IV) bolus or 0.25-3
mg/kg/h IV infusion
 Nicardipine, 1-3 µg/kg/min IV infusion
 Sodium nitroprusside, 0.53-10 µg/kg/min IV infusion to start
Sublingual nifedipine is no longer recommended for the treatment of acute hypertension,
because of reports of death from hypotension in the adult population.
Additional drug recommendations for patients aged 1-17 years may be found in The Fourth
Report on the Diagnosis, Evaluation, and Treatment of High Blood Pressure in Children and
Adolescents. For neonatal doses, see Neonatal Hypertension.
The goal of therapy is to lower BP to normal. Clinicians should be familiar with the
therapeutic effects and adverse effects of these drugs. Patients must be supervised closely
to avoid an excessively rapid decrease in BP, which may result in under perfusion of vital
organs.

#82. RENAL TUBULAR ACIDOSIS

Renal tubular acidosis (RTA) occurs when the kidneys do not remove acids from the blood into
the urine as they should. The acid level in the blood then becomes too high, a condition
called acidosis. Some acid in the blood is normal, but too much acid can disturb many bodily
functions.

There are three main types of RTA.

 Type 1 RTA, or distal RTA, occurs when there is a problem at the end or distal part of
the tubules.

 Type 2 RTA, or proximal RTA, occurs when there is a problem in the beginning or proximal
part of the tubules.

 Type 4 RTA, or hyperkalemic RTA, occurs when the tubules are unable to remove
enough potassium, which also interferes with the kidney’s ability to remove acid from the
blood.

Type 3 RTA is rarely used as a classification now because it is thought to be a combination of type 1
and type 2 RTA.

Structures in the kidney called nephrons filter your blood and remove wastes, such as acids, which
go to your bladder and leave the body in your urine.
 An overview of types 1, 2, and 4 is presented below (type 3 is usually excluded from modern
classifications):

Type Type 1 Type 2 Type 4

Collecting
Proximal
Location Tubules, Adrenal
tubules
distal tubules

Yes (very
Acidemia Yes Mild when present
severe)

Potassium Hypokalaemia Hypokalemia Hyperkalemia

Failure of α Failure
intercalated of proximal
cells to tubular Deficiency of aldosterone, or a resistance to its effects,
Pathophysiology
secrete cells to (hypoaldosteronism or pseudohypoaldosteronism)
H+ and reabsorb HCO −

reclaim K+ 3

Prevalence of Autosomal
46 per 1 dominant: 1
Prevalence/Incidence
million family
people[3] described[4]

Because potassium helps regulate your nerve and muscle health and heart rate, low potassium
levels can cause

 extreme weakness

 irregular heartbeat

 paralysis

 death

The major signs of type 4 RTA are high potassium and low bicarbonate levels in the blood. Symptoms
of type 4 RTA include9

 abdominal pain

 fatigue that does not go away

 weak muscles

 not feeling hungry

 weight change

Treatment and Management

Type 1 Renal Tubular Acidosis
Administration of an alkali is the mainstay of treatment for type 1 renal tubular acidosis
(RTA). Adult patients should be given the amount required to buffer the daily acid load from
the diet. This is usually approximately 1-3 mEq/kg/d and can be administered in any form,
although the preferred form is as potassium citrate. Correction of acidosis usually corrects
the hypokalemia, but K+ supplements may be necessary.
Type 2 Renal Tubular Acidosis
Correcting this form of acidosis with alkali is difficult because a substantial proportion of the
administered HCO3- is excreted in the urine, and large amounts are needed to correct the
acidosis (10-30 mEq/kg/d). Potassium is also required when administering HCO 3-. Correction
is essential in children for normal growth, while in adults aggressive correction to a normal
level may not be required. Thiazide diuretics can be administered to induce diuresis and
mild volume depletion, which, in turn, raises the proximal tubule threshold for
HCO3- wasting.
Patients with type 2 RTA typically have hypokalemia and increased urinary K + wasting.
Administration of alkali in those patients leads to more HCO3- wasting and can worsen
hypokalemia unless K+ is replaced simultaneously.
Type 4 Renal Tubular Acidosis
Because hyperkalemia is central to the etiology of this disorder, a major treatment goal is to
lower the serum K+ level. This can be achieved by placing the patient on a low-K+ diet (1
mEq/kg K+/d) and by withdrawal of drugs that can cause hyperkalemia (eg, angiotensin-
converting enzyme [ACE] inhibitors, nonsteroidal anti-inflammatory drugs). Loop diuretics
can be helpful in reducing serum potassium levels as long as the patient is not hypovolemic.
In resistant cases, fludrocortisone, a synthetic mineralocorticoid, can be used to increase
K+ secretion, but this may increase Na+ retention. Alkali therapy is not usually required,
because, in many patients, the mild degree of acidosis is corrected by achieving
normokalemia. Hyperkalemia and acidosis worsen as kidney function declines further;
eventually, the patient develops a high anion gap renal acidosis. Renal replacement therapy
should be considered once the measures described fail to control hyperkalemia or acidosis.
Chronic Kidney Disease
Treatment of chronic metabolic acidosis in persons with chronic kidney disease (CKD) is
indicated because it can help to prevent bone loss that can progress to osteopenia or
osteoporosis. In children, growth retardation can occur. In addition, treatment slows the
progression of hyperparathyroidism and helps to reduce the high-protein catabolic state
associated with uremic acidosis, which leads to loss of muscle mass and malnutrition.
Alkali treatment is suggested when the serum bicarbonate concentration falls below 22
mEq/L, as treatment may decrease muscle wasting, improve bone disease, and slow the
progression of CKD. In patients with stages 3b and 4 CKD, treatment
of metabolic acidosis with sodium bicarbonate has also been shown to significantly improve
vascular endothelial function. The target serum bicarbonate concentration is unclear,
however; concentrations above 24 mEq/L have been tentatively linked with worsening of
cardiovascular disease, which complicates treatment decisions.
NaHCO3 is the most frequently used agent. It is administered in an amount necessary to
keep the serum HCO3- level greater than 20 mEq/L. The average requirement is
approximately 1-2 mEq/kg/d. Sodium citrate should be avoided if the patient is taking
aluminium as a phosphate binder, because citrate increases aluminium absorption and,
hence, the risk for aluminium toxicity.
Medication Summary
Sodium bicarbonate (NaHCO3) is the agent most commonly used to correct metabolic
acidosis. However, the role of alkali therapy is controversial in the treatment of lactic
acidosis, with some evidence suggesting that HCO3- therapy produces only a transient
increase in the serum HCO3- level and that this can lead to intracellular acidosis and
worsening of lactic acidosis. Other agents may be indicated in patients with metabolic
acidosis due to certain underlying disease processes (eg, carbonic anhydrase inhibitors in
salicylate toxicity, insulin in diabetic ketoacidosis).

83. VESICOURETERAL REFLUX(VUR) AND REFLEX NEPHROPATHY

Primary vesicoureteral reflux (VUR) is the commonest congenital urinary tract abnormalities
in childhood, which is diagnosed mostly after an episode of urinary tract infection (UTI). The
gold standard for its diagnosis is the voiding cystourethrogram (VCUG), which is graded I to
V, grade V being the most severe type. Reflux nephropathy (RN) is the renal scarring that is
diagnosed in patients with VUR, mostly in association with UTI (UTI). However, renal
scarring can occur with UTI in the absence of a VUR or with VUR in the absence of a UTI.
Congenital Versus Acquired Reflux Nephropathy (RN) in Children

Acquired RN Congenital RN

Time of Occurrence Postnatal Prenatal

UTI before diagnosis Common Uncommon

Age distribution All pediatric age Mostly in younger

groups children

Gender distribution Predominantly Predominantly males

females

Grade of VUR Mostly low-grade Mostly high-grade

Dysplastic features on renal No Yes

histopathology
The exact mechanism for renal scarring following UTI is not known, but is believed to be
mediated by immunological mechanisms, macromolecular trapping and mesangial
dysfunction, vascular alterations, hypertension and hemodynamic alterations 1. Renal
scarring due to intrarenal reflux occurs mostly at the renal poles because the presence of
extensively fused (compound) renal papillae, which are associated with reflux. 2. The
scarring may result from a single episode of pyelonephritis, especially in young children, also
called “big bang effect” or the process may take several years.
History
Most children with vesicoureteral reflux (VUR) present in two distinct groups, as follows:
 The first group presents with hydronephrosis, often identified antenatally via
ultrasonography (US); these children typically progress through evaluation and
treatment in the absence of clinical illness
 The second group presents with clinical urinary tract infection (UTI)
Even for experienced pediatricians, the diagnosis of UTI in children can be difficult. Children
often present with nonspecific signs and symptoms. Infection in infants can manifest as
failure to thrive, with or without fever. Other features include vomiting, diarrhea, anorexia,
and lethargy.

Physical Examination
As with the history, few findings on physical examination suggest VUR or UTI. Fever, flank or
abdominal tenderness, or an enlarged palpable kidney may be present. In the absence of
reliable historical or physical findings, diagnosis depends on laboratory testing and imaging,
as well as family history.
Diagnosis
Diagnosis of urinary tract infection (UTI) depends on obtaining accurate urine culture
findings. The criterion standard for obtaining urine specimens remains the suprapubic
aspiration. Any growth in such a sample should be considered significant. In practice,
however, this procedure is rarely done. Urethral catheterization provides substantially
better specificity; more than 1000 colony-forming units (CFU)/mL is considered significant
for these samples.
Imaging Studies
Imaging is the basis of diagnosis and management of vesicoureteral reflux (VUR). The
standard imaging tests include renal and bladder ultrasonography (US) and voiding
cystourethrography (VCUG), though numerous studies are available.
Treatment and Management
Febrile urinary tract infection (UTI) with signs of pyelonephritis in children with
vesicoureteral reflux (VUR) requires admission and also treatment with parenteral
antibiotics to prevent renal damage. This is particularly true in children who are dehydrated,
unable to retain oral intake, or in a toxic state.
The treatment of children with VUR aims to prevent kidney infection, kidney damage, and
the complications of kidney damage. Treatment options include surveillance, medical
therapy, and surgical therapy. Walker summarized the general principles of management in
children with known VUR as follows:
 Spontaneous resolution of VUR is common in young children but is less common as
puberty approaches
 Severe reflux is unlikely to resolve spontaneously
 Sterile reflux, in general, does not result in reflux nephropathy
 Long-term antibiotic prophylaxis in children is safe
 Surgery to correct VUR is highly successful in experienced hands
Treatment modalities include;
 Endoscopic injection therapy
 Medical treatment with antibiotics for prophylaxis of Kidney infection
 Surgical care
 Diet: Children with frequent UTIs often have concurrent problems with constipation
and poor bowel habits. Institution of a bowel program in these children can reduce
the frequency of infection. High-fiber diets combined with a stool softener, such as
docusate, can improve bowel function and reduce colonic and rectal dilation. For
severe cases, daily polyethylene glycol is often used.

84. CYSTIC KIDNEY DISEASES

Cystic kidney disease (CKD) describes a group of conditions that cause cysts (fluid-filled sacs)
to form in or around the kidneys. Kidney cysts can prevent the kidneys from filtering water
and waste out of your blood. Cystic kidney disease can lead to kidney failure.
Genetic cystic kidney diseases include:
 Polycystic kidney disease (PKD): Autosomal dominant polycystic kidney
disease (ADPKD) is the most common form of cystic kidney disease in adults. It’s
usually diagnosed between the ages of 30 and 50. Another type of PKD is autosomal
recessive polycystic kidney disease (ARPKD). It causes abnormal kidney development
in the uterus or soon after birth. ARPKD is rare.
  Glomerulocystic kidney disease (GCKD): GCKD causes cysts and enlargement of the
space in the kidneys near the urinary tract. It’s very uncommon but can affect infants
or adults.
 Medullary cystic kidney disease (MCKD): MCKD causes cysts to develop in the
corticomedullary (inner) part of the kidneys. It leads to inflammation and scarring of
the tubes that help the kidneys filter waste.
 Nephronophthisis: This condition is very similar to MCKD, but it affects infants,
children and teenagers. It usually leads to kidney failure before adulthood.
What causes cystic kidney disease?
Cystic kidney diseases can be the result of genetic mutations. Or they might develop over
time due to diseases, birth defects or age. The cysts themselves occur when pieces of the
renal tubes detach from the parent tube.
What are the symptoms of cystic kidney disease?
The various cystic kidney diseases have different symptoms. Some of the most common
among them include:
 Back or flank pain (pain in your back or sides).
 Burst or bleeding cysts.
 Difficulty urinating, or not producing much urine.
 Enlarged kidneys (more common in PKD) or kidney masses.
 Headaches.
 Hematuria (blood in the urine).
 High blood pressure.
 Kidney infections.
 Kidney stones.
What are the complications of cystic kidney disease?

Some of the more common complications of the various cystic kidney diseases include:

 Kidney failure.
 Heart valve problems (more common in PKD).
 Liver cysts and pancreatic cysts (more common in PKD).
 Problems with growth and development in infants.
How is cystic kidney disease diagnosed? Your healthcare provider evaluates your symptoms
and medical history. They may do one or more of the following imaging tests to check for
kidney cysts:

 Kidney ultrasound or prenatal ultrasound.

 CT scan.
 MRI.

Treatment and Management

Medical Care

Effective means of prevention or modulation of disease have not yet been identified.
Current treatment is aimed at symptom control. In general, therapy is reserved for pain,
hypertension, infection, renal salt wasting, and nephrolithiasis.

Surgical Care

Surgical indications in renal cystic disease vary with the underlying disorder.

Surgical treatment modalities include:

 Fine Needle Aspiration

 Kidney Replacement
 Laparoscopic cyst decortication
 Percutaneous endocystolysis is another technique described for treatment of
symptomatic cysts. The technique involves obtaining percutaneous access, dilating
the tract, and then introducing a resectoscope with rollerball electrode to cauterize
the internal surface of the cyst.
 Nephrectomy
 Renal Embolization
 Sclerosis
 Open resection
 Endoscopic marsupialization and fulguration
 Percutaneous resection
 Laparoscopic resection

85. Acute kidney injury (AKI)

It is a sudden loss of renal function with a subsequent rise in creatinine and blood
urea nitrogen (BUN)
Etiology
 Clinical features
 May be asymptomatic.
 Oliguria or anuria
 Signs of volume depletion (in prerenal AKI caused by volume loss)
o Orthostatic or frank hypotension and tachycardia
o Reduced skin turgor
 Signs of fluid overload (from Na and H O retention)
+
2

o Peripheral and pulmonary edema

o Hypertension
o Heart failure
o Shortness of breath
 Signs of uremia
o Anorexia, nausea
o Encephalopathy, asterixis
o Pericarditis
o Platelet dysfunction
 Signs of renal obstruction (in postrenal AKI)
o Distended bladder
o Incomplete voiding
o Pain over the bladder or flanks
 Fatigue, confusion, and lethargy
 In severe cases: seizures or coma
 Affected individuals have a higher risk of secondary infection throughout all phases (most common
reason for fatalities
 Diagnostics
Laboratory studies
 Serum creatinine and BUN
 Serum electrolytes: sodium, potassium, magnesium, calcium, and phosphate
 CBC
 Blood gases: ABG or VBG
 Urinalysis with urine sediment microscopy
 Urine sodium, urea, creatinine, and osmolality
 Calculate excretion fractions: may help to differentiate prerenal AKI from intrinsic AKI [10]

o Fractional excretion of sodium (FENa)

o Fractional excretion of urea (FEUrea)

The investigative and nursing measures, that are essential in the proper management of acute renal
failure
Additional evaluation
Imaging of the kidneys and urinary tract is not necessary to establish a
diagnosis of AKI but may be needed to determine the etiology.(Ultrasound,
Noncontrast CT, Renal Biopsy)

Management
 The sheet-anchor of management is the control of fluid and electrolyte balance. A strict intake and
output chart is required to be maintained.
 In a child with complete anuria, daily intake of fluids should be restricted to losses through
perspiration, vomiting, stools and breathing. This may be given by mouth or intravenously.
 If IV isotonic saline or Ringer lactate is to be given, 20 to 30 ml/ kg of body weight in one hour is the
recommendation. Excessive intake of fluids is risky.
 If the underlying cause of anuria is excessive blood loss or burns, a blood transfusion (10 to 20 ml/kg)
is indicated.

 In case oliguria/anuria continues, a rapid infusion of mannitol may be given. The recommended dose of
mannitol is 0.2 to 0.5 g/kg of a 20% aqueous solution, administered intravenously during a 3 to 5
minutes interval.
 If a satisfactory response occurs (excretion of 6 to 10 ml/kg of urine in next 1 to 4 hours), a second
dose of mannitol may be repeated. An important prerequisite for administration of mannitol is that the
patient must be adequately hydrated before its infusion.
 The response to mannitol is poor, a diuretic like frusemide may prove of value.

In case of hyperkalemia, any further administration of potassium should be avoided. To reduce the
potassium level, the following measures may be helpful:
1. Administration of a cation-exchange resin in the sodium form. Resonium A in a dose of 1 mg/ kg/ day (in 2
divided doses) lowers serum potassium by 1 mEq/L

2. For rapid control of fulminant hyperkalemia, administration of glucose-calcium gluconate-insulin infusion is

indicated. Alternatively, hypertonic sodium lactate or bicarbonate solution,3 mEq/ kg, is a useful measure for
transitory relief.

3. Peritoneal dialysis or hemodialysis is needed in case of persistent hyperkalemia not responding to the above
treatment.

The additional indications of dialysis are progressive metabolic acidosis, rise in blood urea at a rate exceeding
100 mg% per 24 hours, congestive cardiac failure and further aggravation in clinical condition of the child

 Remember that dialysis must be initiated slowly. Or, else the patient may develop symptoms ranging
from nausea and vomiting to severe headache and convulsions.
 In case of hypocalcaemia, 4 to 8 g/kg by mouth or smaller amounts intravenously of calcium gluconate
should be administered. In order that this therapy proves effective, aluminium hydroxide gel, 1 to 2
teaspoonful 3 to 4 times daily, should be given. Also, care should be exercised to restrict phosphate-rich
foods like milk. It is difficult to bring up serum calcium in the presence of hyperphosphatemia. If
remarkable acidosis coexists, it should be corrected with sodium lactate or bicarbonate.
 Diet should be primarily in the form of carbohydrates and fat, providing at least 50-60 kcal/ kg.
Proteins should be restricted to 0.8-1 g in infants and 0.6-0.8 g/kg in children to cut down endogenous
catabolism. The latter predisposes to hyperkalemia and azotemia. It is important to provide
supplements of micronutrients. In case anemia, hypertension and congestive cardiac failure (CCF) are
coexisting, these should be adequately controlled. While patient’s acute problems are being tackled,
efforts should also be directed at finding the etiologic factor responsible for the shutdown. In order to
minimize catabolism and azotemia, some authorities recommend anabolic steroid therapy. In our
experience, such a therapy should be restricted to cases of renal shutdown of long-standing duration

86.CHRONIC RENAL FAILURE (CRF)

The term, chronic renal failure, refers to permanent, irreversible and gross deterioration in renal
function, finally leading to end-stage renal disease

Etiology
 Diabetic nephropathy (38%)
 Hypertensive nephropathy (26%)
 Glomerulonephritis (16%)
 Other causes (15%, e.g., polycystic kidney disease, analgesic misuse, amyloidosis)
 Idiopathic (5%)

Clinical Features
 Manifestations include increased thirst, frequent passage of urine, progressive anemia,
hypertension, growth retardation, rickets, and bone pains.
 In late stage, acidotic breathing, anorexia, nausea, vomiting, muscular weakness, peripheral
neuropathy, itching, purpura, cardiomyopathy and pericarditis are present. Superadded
infection, as a result of defective granulocytic function and impaired cellular immune function,
is frequent, and often contributes to terminal renal failure and mortality

Diagnostic criteria

Parameters of renal function

 Serum markers: ↑ creatinine and BUN (alternatively, ↑ cystatin C)
 Glomerular filtration rate: ↓ eGFR

 Criteria for chronic kidney disease (CKD) include the persistence of eGFR < 60
mL/min/1.73 m2 (≥ G3a) and/or of any of the following markers of kidney damage for > 3
months:
o Albuminuria: e.g., urine albumin-to-creatinine ratio (UACR) > 30 mg/g (≥ A2)
o Urine sediment abnormalities: e.g., hematuria
o Abnormalities due to tubulointerstitial dysfunction, e.g.:
 Electrolyte and acid-base imbalances
 Retention of nitrogenous wastes
 Reduced production of erythropoietin, 1,25-dihydroxyvitamin D, and/or renin
o Histological abnormalities on biopsy
o Imaging showing structural abnormalities: e.g., polycystic kidney disease
o History of renal transplant
 CKD progression is the presence of either of the following:
o A decline in renal function, leading to a change in eGFR category
o A sustained decline in eGFR of > 5 mL/min/1.73 m2 per year
[10]
 End-stage renal disease (ESRD)
o Irreversible kidney dysfunction with eGFR < 15 mL/min/1.73 m2
o AND manifestations of uremia requiring chronic renal replacement therapy with either
dialysis (hemofiltration or hemodiafiltration) or renal transplantation
Treatment
 Diet in CRF needs particular attention. The protein intake needs to be at least 1.5 g/kg/day
(100 percent of RDA). It should be of highest biologic value, e.g. eggs, milk, meat, fish and
fowl. Limiting protein intake to a very low level not only fails to stop progression of renal
failure but also causes growth failure. Calorie intake should be 80-100 percent (or more in
the event of existing growth deficit) of RDA.
 Low phosphate milk should be preferred. High potassium foods and excessive intake of
sodium should be avoided.
 Supplementary vitamins (water soluble), calcium and zinc may be administered. Water intake
should be liberal, ensuring that dehydration is prevented at all costs. Else, the subject runs
the risk of going into enhanced azotemia. Acidosis with serum bicarbonate falling below 20
mEq/L occurs when GFR falls below 50 percent of normal needs to be treated with sodium
bicarbonate tablets (2-3 mEq/kg/day, may be increased as required) to raise the serum
bicarbonate level above 18-20 mEq/L.
 Anemia with hemoglobin falling below 6 g/dl needs a packed red cell transfusion (10 ml/kg)
cautiously. The new modality, recombinant human erythropoietin or synthetic erythropoietin
has eliminated the need for repeated transfusions, thereby preventing such complications as
iron overload, cytotoxic antibodies and superimposed infections.
 By maintaining hemoglobin level, it improves fitness of the subject. Erythropoietin is,
however, very expensive and not yet freely available in developing countries . Its indication is
a hematocrit under 0.27 or transfusion dependence.
 The dose is 50 units/kg/week (SC) in single or two divided doses. If response is inadequate,
dose is increased by 25 units/kg/week. Once target (hemoglobin 11 g/dl) is reached, dose is
reduced by 12.5-25 units/kg/week. Most common side effect of erythropoietin is
hypertension followed by painful injection site, hyperphosphatemia, vasculare access
thrombosis and influenza-like symptoms.
 Most frequent cause of unresponsiveness of the subject to it is iron-deficiency anemia
followed by infection, aluminium toxicity, severe hypoparathyroidism, hemolysis and bone
marrow dysplasia. Hypertension needs to be appropriately treated to maintain diastolic
values under 80 mm Hg. Acute hypertensive emergency is best handled with sublingual
nifedipine or IV diazoxide, at times with frusemide.
 Therapy of sustained hypertension revolves round frusemide, propranolol, and hydralazine.
Minoxidil and captopril should be reserved for resistant cases only. Renal osteodystrophy
needs to be managed with low phosphate diet supported by an antacid, calcium carbo-nsate.
 The latter not only binds phosphate in the GIT but also enhances its fecal excretion.
Aluminium antacid must be avoided to safeguard against risk of aluminium poisoning.
Supplementation with calcium corrects hypocalcemia which is usual in CRF.
  Large amounts of vitamin D3, 25,000 to 100,000 IU/day or calcitriol (1,25-
dihydroxycholecalciferol), 15 ng/kg/day in two divided doses or 0.5-1.0 mcg thrice a day,
which is many times more potent than vitamin D3 are initially indicated in:
1. Persistent hypocalcemia despite appropriate corrective measures,
2. Osteodystrophy as confirmed by high serum alkaline phosphatase level and radiologic
evidence of rickets. Following occurrence of healing of rickets, dose of vitamin D3 is reduced.
3. Serum PTH over 2-3 times the normal . Symptomatic therapy with antihistaminics is
justified in the presence of itching, anorexia and vomiting in advanced CRF. Infections,
especially urinary tract infection, must be energetically treated with appropriate
chemotherapy. Else, further deterioration in the patient’s condition is bound to occur.
Drug dosage needs careful monitoring since, when given in normal recommended doses, these may
cause toxicity in CRF. Renal transplant becomes the final remedial therapy in end-stage renal
disease/failure

87. Congenital hypothyroidism

Etiology
 Sporadic (∼ 85% of cases)
o Thyroid hypoplasia, dysplasia, or ectopy
o Thyroid aplasia (athyroidism)
o Transplacental transmission of maternal antithyroid antibodies
 Hereditary (∼ 15% of cases)
o Dyshormonogenetic goiter: Defects in thyroid hormone synthesis (most commonly
in thyroid peroxidase) lead to thyroid hyperplasia and goiter.
o Peripheral resistance to thyroid hormones
 Fetal iodine deficiency syndrome: Congenital hypothyroidism caused by iodine
deficiency in utero (rare in iodine-sufficient areas).

Clinical features
Children with congenital hypothyroidism may have general signs and symptoms of
hypothyroidism in addition to those seen in neonates.

 Onset
 o Usually little to no features are present at birth as maternal T4 can cross the placenta.
o Features can develop over weeks to months if screening is not performed.
o Features can be apparent at birth in fetal iodine deficiency syndrome.
 Possible neonatal features
o Abdominal distention
o Delayed passage of meconium
o Umbilical hernia
o Prolonged neonatal jaundice
 Most commonly, unconjugated hyperbilirubinemia
 Less commonly, conjugated hyperbilirubinemia
o Hypotonia
o Decreased activity, poor feeding, and adipsia
o Hoarse cry, macroglossia
o Hypothermia
o Failure to thrive (length affected more than weight)
 Cretinism: a complication of severe, untreated congenital hypothyroidism that leads to
impaired development of the brain and skeleton, resulting in skeletal abnormalities
(e.g., short stature and delayed fontanelle closure) and permanent intellectual disabilities

Diagnostics
 Neonatal screening to measure TSH levels 24–48 hours after birth is required by law.
 Increased TSH levels indicate congenital hypothyroidism.

Treatment
 Lifelong hormone replacement is necessary.
 Normalization of thyroid hormone levels within 2–3 weeks is vital to prevent brain
damage and developmental disorders

88. Chronic autoimmune thyroiditis Hashimoto in childhood

Hashimoto thyroiditis (autoimmune thyroiditis, lymphocytic thyroiditis). It is said to be the most
common cause of childhood goiter in nonendemic areas. It is more often seen in girls and may, at
times, be familial. Some patients with this goiter may progress to hypothyroid state. Treatment, if
any, is thyroxine. Iodine therapy is more or less contraindicated.

 Early-stage
o Primarily asymptomatic
o Goiter: nontender or painless, rubbery thyroid with moderate and symmetrical
enlargement [2]
 o Hashitoxicosis may occur: transient hyperthyroidism due to follicular rupture
of hormone-containing thyroid tissue that manifests with, e.g., irritability, heat
intolerance, diarrhea.
 Late-stage
o Thyroid may be normal-sized or small if extensive fibrosis has occurred.
o Hypothyroidism (e.g., cold intolerance, constipation, fatigue)
Diagnostics
 Thyroid metabolism [5]
o Early-stage: transient hyperthyroidism possible (↓ thyroid stimulating hormone (TSH), ↑
free triiodothyronine (FT3), and ↑ free thyroxine (FT4))
o Progression: subclinical hypothyroidism (↑ TSH; FT3 and FT4 normal)
o Late-stage: overt hypothyroidism (↑ TSH; ↓ FT4 and ↓ FT3)
 Antibody detection
o Anti-TPO antibody positive (↑ anti-microsomal antibodies)
o Anti-Tg antibody positive
o See “Thyroid antibodies.”
 Other laboratory tests
o Lipid profile: ↑ LDL and ↓ HDL
o CBC: ↓ Hb
 Ultrasound
o Indications: to assess thyroid size, echotexture, and to exclude thyroid nodules
o Results depend on the form of Hashimoto thyroiditis.
 Atrophic phenotype: reduction in thyroid size (mainly observed)
 Goitrous phenotype: heterogeneous enlargement
 Fine-needle aspiration: to exclude malignancy or lymphoma, especially in cases of
rapid goiter growth [6]
 Radioactive iodine uptake test (RIUT): Radioactive iodine uptake is variable, often
patchy and irregular with either an increase or decrease in 99mTc uptake. There is ↓
absorption of radioactive technetium (↓ 99mTc uptake) in the thyroid during
transient hyperthyroidism

Treatment
 Levothyroxine (T4) replacement therapy
o Life-long oral administration of L-thyroxine (T4)
o Commence at a lower and more slow-acting dose with increasing severity
of hypothyroidism because of the risk of cardiac side effects.
 Life-long monitoring
o Due to decline in T4 production with increasing age
 o Life-long monitoring of thyroid parameters (primarily TSH) is necessary to adjust
treatment accordingly and avoid hyperthyroidism

Complications
 Permanent hypothyroidism [2]
 Myxedema coma
 Thyroid lymphoma

89. HYPERTHYROIDISM (Juvenile Graves Disease)

Etiology
This rare disorder of excessive secretion of thyroid hormone, though rare in pediatric practice, may
occur in fetal life, in neonates with history of maternal thyrotoxicosis. Usually, subjects are
preadolescent or adolescents, with predominance of girls. Familial occurrence is on record

Clinical Features Manifestations

include hyperexcitability, excessive irritability, motor hyperactivity, emotional disturbances, weight
loss despite voracious appetite, palpitations, unusually tall stature and exophthalmos. Progressive
cardiomegaly and cardiac insufficiency may incapacitate the patient

Transient neonatal thyrotoxicosis may occur following transplacental transfer of maternal thyroid
stimulating immunoglobulin.

Diagnosis
Investigations include radiologic examination for bone age which is usually advanced for age, high
serum T4 and free T4 and T3 and free T3, oversuppressed TSH, and increased uptake of radioactive
iodine.

Treatment
Recommended antithyroid measures are propylthiouracil (PTU), methimazole, neomercazole
(carbimazole), radioactive iodine, and surgery (subtotal or total thyroidectomy).

What are possible complications of Graves disease in a child?

Some people with Graves disease develop an eye condition known as Graves ophthalmopathy. This is
when the immune system attacks muscles and tissues around the eyes.

Side effects from the medicines used to treat Graves disease can also occur.

90. Parathyroid glands and disorders of calcium homeostasis, hypoparathyroidism

 These glands produce a hormone called parathormone which is responsible for maintenance
of calcium metabolism. It mobilizes calcium and phosphorus from bone.
  Secondly, it reduces serum phosphate by inhibiting renal tubular reabsorption of phosphate.
 Thirdly, it boosts reabsorption of calcium. Fourthly, it increases reabsorption of calcium from
bones.
 Fifthly, it increases absorption of calcium from gut.
 Hypoparathyroidism may result from congenital absence (aplasia) of parathyroids.
 When in association with aplasia of thymus, congenital defects of CNS, CVS and eye, it is
termed DiGeorge syndrome.
 Transient hypoparathyroidism may occur in newborns with hypocalcemia as a result of intake
of milk of high phosphate/calcium ratio, low birth-weight infants, babies of diabetic mothers
and babies born to mothers with functioning adenoma of parathyroids.
 The baby with transient hypoparathyroidism may have latent or overt tetany and even
convulsions. Serum calcium is low.
 Autoimmune hypoparathyroidism is usually seen in association with Addison disease,
pernicious anemia, lymphocytic thyroiditis, persistent moniliasis, alopecia areata and
steatorrhea.
 Pseudohypoparathyroidism is, on the contrary, an error of end-organ response. Parathyroid
secretion is good enough. These patients are mentally retarded and have poor bone growth
with short fingers and toes.
 Hyperparathyroidism is a very uncommon disorder. It is characterized by hypercalcemia,
hypophosphatemia and hypercalciuria. Extensive demineralization of bones is evident in X-
rays. Another important cause of hypercalcemia is vitamin D intoxication

91. Insufficiency of the cortex of the adrenal glands, primary and secondary

Adrenal insufficiency can be primary or secondary:

 Primary adrenal insufficiency. This is known as Addison's disease. It occurs when

the adrenal glands are damaged. They don’t make enough of the hormones cortisol
and aldosterone. This condition is rare. It may occur at any age.
 Secondary adrenal insufficiency. This starts when the pituitary gland doesn’t make
enough of the hormone ACTH (adrenocorticotropin). As a result the adrenal glands
don’t make enough cortisol.
Causes of adrenal insufficiency.
PRIMARY

(i) Congenital adrenal hyperplasia

(ii) Congenital adrenal hypoplasia due to gene mutations (e.g. DAX-1, SF1 mutations)

(iii) Peroxisome defects (adrenoleukodystrophy [childhood or neonatal], Zellweger syndrome)

(iv) Bilateral adrenal hemorrhage of the newborn

 (v) Adrenal hemorrhage of acute infection (Waterhouse-Friderichsen syndrome)

(vi) Autoimmune adrenalitis (isolated or part of autoimmune polyglandular syndrome type 1 and 2)

(vii) Infection (e.g. tuberculosis, fungal infection, human immunodeficiency virus, cytomegalovirus)

(viii) Triple A syndrome or Allgrove syndrome (alacrimia, achalasia, adrenal insufficiency)

(ix) Adrenal unresponsiveness to ACTH due to gene mutations

(x) Familial glucocorticoid deficiency

(xi) Drug effects (mitotane, ketoconazole, aminoglutethimide, metyrapone, megestrol, rifampin)

SECONDARY (CENTRAL)

(i) Congenital

(a) Septo-optic dysplasia

(b) Pituitary aplasia/hypoplasia

(c) Agenesis of corticotrophs

(d) POMC

(ii) Acquired

(a) Trauma

(b) Brain tumor (craniopharyngioma)

(c) Lymphocytic hypophysitis

(d) Surgery

(e) Cranial irradiation

(f) Infiltrative disease (hemochromatosis, sarcoidosis, Langerhans cell histiocytosis)

(g) Steroid withdrawal after prolonged administration

Investigations

 Synacthen test
 Cortisol/ACTH
 Insulin tolerance test
 Glucose
 U+Es
 Urine Steroid profile
 Aldosterone/ renin

Management
 1. Adequate fluid resuscitation if presenting in crisis with associated hypovolaemia and
hypotension together with IM hydrocortisone
2. Steroid replacement usually hydrocortisone. Fludrocortisone for any
mineralocorticoid deficiency
3. In the 1st year of life some babies require NaCl supplements.
4. Sick day rules: increasing usual steroid dose to try and prevent addisonian crisis
5. All patient need to carry emergency hydrocortisone as an intramuscular injection and
display and medical alert bracelet to identify the condition in case of emergency.

Complications

 Addisonian crisis: a medical emergency which can develop in anyone who is dependent
on steroids or unable to produce sufficient themselves. Can occur with intercurrent illness or
stress as they are unable to increase the amount of steroid themselves in response.
Presents with hypotension, collapse, confusion.
 Associated arrhythmias due to electrolyte disturbances, for example VF in very severe
hyperkalemia
 In the neonatal period look out of disorders of sexual development.
 As a baby collapse and seizures, due to low glucose and hyponatraemia can be life
threatening.
99. Developmental anomalies of the CNS
Developmental anomalies of the central nervous system (CNS) are structural abnormalities that
occur during the formation of the brain and spinal cord in paediatric patients. These anomalies can
result from genetic factors, environmental exposures, or a combination of both. Some common
developmental anomalies of the CNS seen in paediatrics include neural tube defects (such as spina
bifida and anencephaly), hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain),
cerebral palsy (a group of movement and posture disorders), and congenital brain malformations
(such as agenesis of the corpus callosum or holoprosencephaly). The treatment and management of
developmental anomalies of the CNS depend on the specific condition and its severity. It may involve
surgical interventions, medications to manage symptoms, physical therapy, occupational therapy, and
supportive care to address developmental delays. Early detection, timely intervention, and
comprehensive multidisciplinary care are crucial in optimising the outcomes and quality of life for
children with developmental anomalies of the CNS.

Spina bifida is the most common NTD, characterised by an incomplete closure of the spinal column.
It can lead to a range of complications, such as paralysis, muscle weakness, bladder and bowel
problems, and hydrocephalus (excessive fluid in the brain). Anencephaly is a severe NTD where a
major portion of the brain and skull fails to develop, resulting in a baby born without parts of the
brain and skull. Unfortunately, babies with anencephaly do not survive for long after birth.
Encephalocele is another NTD in which a sac-like protrusion containing brain tissue forms outside the
skull.

Surgical interventions are often required to repair the spinal defect in spina bifida and correct the
protrusion in encephalocele. Preconception folic acid supplementation and prenatal screening play a
crucial role in the prevention and early detection of NTDs, allowing for timely interventions and
improved outcomes.

100. Purulent Meningitis

Purulent meningitis in paediatrics refers to an infection and inflammation of the meninges, the
protective membranes surrounding the brain and spinal cord, caused by bacteria. The most common
bacteria responsible for purulent meningitis in children include Streptococcus pneumoniae, Neisseria
meningitidis, and Haemophilus influenzae type B.

Paediatric patients with purulent meningitis often present with symptoms such as high fever, severe
headache, stiff neck, irritability, poor feeding, vomiting, and altered mental status. In infants,
symptoms may include bulging fontanelle (soft spot on the baby's head), poor feeding, and excessive
sleepiness. Prompt diagnosis is crucial, and a lumbar puncture is performed to obtain cerebrospinal
fluid for analysis, including culture and sensitivity testing.

Treatment of purulent meningitis involves hospitalisation and administration of intravenous

antibiotics to target the specific bacteria causing the infection. Empiric antibiotic therapy is initiated
initially, followed by adjustment based on culture results and sensitivities. Supportive care, including
pain management, hydration, and monitoring for complications such as seizures, is also provided.

Prevention of purulent meningitis involves routine childhood vaccinations, such as the pneumococcal
conjugate vaccine, Haemophilus influenzae type B vaccine, and meningococcal vaccines. Vaccination
is highly effective in reducing the incidence of bacterial meningitis in children.

101. Viral Meningitis

Viral meningitis in paediatrics is an infection and inflammation of the meninges, the protective
membranes surrounding the brain and spinal cord, caused by viral pathogens. It is a relatively
common condition, especially in children, and is typically less severe than bacterial meningitis. The
most common viruses associated with viral meningitis in paediatrics include enteroviruses, herpes
simplex virus, and varicella-zoster virus.
Paediatric patients with viral meningitis often present with symptoms such as fever, headache, neck
stiffness, irritability, photophobia (sensitivity to light), and nausea. Unlike bacterial meningitis, viral
meningitis typically has a milder course and a better prognosis. However, it still requires medical
evaluation and appropriate management.

Diagnosis of viral meningitis involves a lumbar puncture to obtain cerebrospinal fluid for analysis.
Laboratory tests, including polymerase chain reaction (PCR), are performed to detect viral genetic
material and identify the specific virus causing the infection.

Treatment of viral meningitis is primarily supportive, as there is no specific antiviral therapy for most
viral infections causing meningitis. Medical care focuses on managing symptoms, such as fever and
pain, and ensuring hydration and rest. Most cases of viral meningitis in children resolve on their own
with time and supportive care.

Prevention of viral meningitis involves practising good hygiene, such as frequent handwashing, and
taking appropriate precautions to prevent the spread of viral infections. Vaccination against certain
viruses, such as varicella-zoster virus (chickenpox) and measles, mumps, and rubella (MMR), can also
help reduce the risk of viral meningitis.

102. Coma in childhood and urgent measures to stabilise vital functions

Coma in childhood refers to a state of unconsciousness where a child is unresponsive and unable to
wake up or exhibit purposeful movements. It is a serious medical emergency requiring immediate
attention and stabilisation of vital functions. Urgent measures to stabilise vital functions in a child
with coma include the following:

Airway Management: Ensuring a patent airway is crucial to maintain oxygenation and ventilation.
The child's airway should be assessed and any obstruction, such as a foreign body or tongue blocking
the airway, should be addressed. If necessary, interventions like head tilt-chin lift or jaw thrust should
be performed, and advanced airway management may be needed, including endotracheal
intubation.

Breathing Support: Assisting or providing artificial ventilation may be necessary if the child is not
breathing adequately. Supplemental oxygen should be administered to maintain adequate oxygen
saturation levels.

Circulation Support: Establishing intravenous access allows for administration of fluids, medications,
and monitoring of vital signs. Fluid resuscitation may be required to maintain blood pressure and
perfusion. In cases of cardiac arrest or severe circulatory compromise, cardiopulmonary resuscitation
(CPR) should be initiated promptly.

Neurological Assessment: A comprehensive neurological examination should be conducted to

determine the cause and severity of coma. This includes assessing pupillary responses, motor
responses, and evaluating for signs of raised intracranial pressure.

The Glasgow coma scale is only applicable to children >4 years old; for those younger than this, the
children’s coma scale is used.This is identical to the Glasgow coma scale, other than the verbal
response.
Smiles, orientated to sounds, follows objects, interacts – 5

Fewer than usual words, spontaneous irritable cry but settles — 4

Cries continuously, inconsolable — 3

Moans to pain — 2

No response to pain — 1

Diagnostic Investigations: Urgent laboratory tests, such as blood glucose, electrolytes, complete
blood count, and toxicology screens, should be obtained to identify potential reversible causes of
coma. Imaging studies, such as a head CT scan, may be necessary to evaluate for structural
abnormalities or acute brain injury.

Treat Underlying Cause: Depending on the identified cause of coma, specific interventions or
treatments may be needed. This may involve administration of antidotes for drug overdose, seizure
control with antiepileptic medications, or initiation of therapeutic hypothermia in certain cases of
brain injury.

Transfer to a Pediatric Intensive Care Unit (PICU): Children with coma require close monitoring and
specialised care. Urgent transfer to a PICU or a facility with paediatric critical care expertise should be
arranged promptly to provide ongoing management and evaluation.

103. Anaemias in childhood

Childhood anemias encompass a range of conditions characterised by a decreased number of red

blood cells or a deficiency in haemoglobin, the oxygen-carrying protein. The pathology of childhood
anemias can be diverse and include causes such as nutritional deficiencies (iron, vitamin B12, or folic
acid), inherited disorders (such as sickle cell anaemia or thalassemia), chronic diseases, bone marrow
disorders, and autoimmune conditions. The presentation of childhood anemias can vary depending
on the underlying cause and the severity of the condition. Common symptoms include fatigue,
weakness, pale skin, shortness of breath, dizziness, poor appetite, and growth and developmental
delays. The treatment of childhood anemias aims to address the underlying cause and restore
normal levels of red blood cells and haemoglobin. This may involve nutritional supplements, such as
iron, vitamin B12, or folic acid, or specific treatments targeted at inherited or chronic diseases. In
severe cases, blood transfusions may be necessary to quickly replenish red blood cells and improve
symptoms. Management also involves regular monitoring of blood counts and appropriate follow-up
with healthcare providers to ensure effective treatment and long-term management of childhood
anemias.

104. Hypochromic anaemia

Hypochromic anaemia is a type of anaemia characterised by a decreased amount of haemoglobin in
red blood cells, leading to a pale appearance. In children, it commonly arises due to iron deficiency,
which can result from insufficient dietary intake, inadequate absorption, or increased iron
requirements during periods of rapid growth. The presentation of hypochromic anaemia in children
typically includes fatigue, weakness, pale skin, shortness of breath, and poor concentration. In severe
cases, children may experience delayed growth and development. Treatment of hypochromic
anaemia involves addressing the underlying cause, primarily focusing on iron supplementation and
dietary modifications. Iron supplements are administered orally or, in severe cases, through
intravenous infusion. Additionally, dietary changes involving iron-rich foods such as lean meats, dark
leafy greens, and fortified cereals can help replenish iron stores and support recovery. Regular
monitoring of iron levels and follow-up with healthcare providers are essential to ensure appropriate
management and resolution of hypochromic anaemia in children, in cases where it is left untreated
the condition can progress into microcytic anaemia.

105. Megaloblastic anaemia

Megaloblastic anaemia is a type of anaemia characterised by the presence of abnormally large and
immature red blood cells called megaloblasts. In children, megaloblastic anaemia is most commonly
caused by a deficiency of vitamin B12 or folic acid. Vitamin B12 deficiency can arise due to poor
dietary intake, malabsorption disorders, or in rare cases, inherited metabolic disorders. Folic acid
deficiency often occurs due to inadequate dietary intake or conditions that increase folic acid
requirements, such as rapid growth or certain medical conditions. The presentation of megaloblastic
anaemia in children includes fatigue, weakness, pale skin, shortness of breath, poor appetite, and
developmental delays. Neurological symptoms, such as numbness, tingling, and difficulty with
coordination, may also be present in severe cases. Treatment of megaloblastic anaemia involves
identifying and addressing the underlying cause. Vitamin B12 or folic acid supplements are
administered orally or, in severe cases, through intramuscular injections. Dietary modifications to
include foods rich in vitamin B12 and folic acid, such as meat, fish, dairy products, and green leafy
vegetables, are also recommended. Regular follow-up with healthcare providers and monitoring of
blood counts and vitamin levels are crucial to ensure appropriate management and resolution of
megaloblastic anaemia in children.

106. Haemoglobinopathies and thalassemias

Hemoglobinopathies

Definition:

Hemoglobinopathies are a group of inherited disorders characterized by abnormal or deficient

production of hemoglobin, the protein responsible for carrying oxygen in red blood cells. These
disorders primarily affect pediatric populations and can lead to a range of clinical manifestations,
including anemia, organ damage, and chronic health complications.

Types of Hemoglobinopathies:

1. Sickle Cell Disease (SCD): SCD is the most common hemoglobinopathy, characterized by the
presence of abnormal hemoglobin S (HbS) instead of normal hemoglobin A (HbA). It results in the
formation of rigid, crescent-shaped red blood cells that can cause vaso-occlusive crises, anemia, and
organ damage.

2. Thalassemias: Thalassemias are a group of disorders characterized by reduced production of one

or more of the globin chains that make up hemoglobin. The severity of thalassemias varies
depending on the extent of globin chain deficiency. The two main types are alpha thalassemia and
beta thalassemia.

Clinical Presentation and Complications:

1. Anemia: Hemoglobinopathies can lead to chronic hemolytic anemia, where red blood cells are
destroyed at a faster rate than they can be replaced. This results in fatigue, pale skin, shortness of
breath, and delayed growth and development.

2. Vaso-occlusive events: In SCD, the abnormal sickle-shaped red blood cells can block blood vessels,
causing pain crises, organ damage, and increased susceptibility to infections.

3. Organ damage: Hemoglobinopathies can affect various organs, including the spleen, liver, kidneys,
heart, lungs, and brain. Complications such as splenic sequestration, gallstones, stroke, acute chest
syndrome, and pulmonary hypertension may arise.

4. Delayed growth and development: Chronic anemia and the need for frequent medical
interventions can impact a child's growth, development, and educational attainment.

5. Infections: Children with hemoglobinopathies may have a higher risk of infections due to
compromised immune function, functional asplenia, or repeated blood transfusions.

Diagnosis and Management:

1. Newborn screening: Many countries include hemoglobinopathy screening as part of their newborn
screening programs to identify affected infants early, allowing for timely intervention and
management.

2. Hemoglobin electrophoresis: This laboratory test helps identify the specific type of
hemoglobinopathy and provides information on the types and quantities of different hemoglobin
variants present.

3. Genetic testing: Genetic testing can be performed to confirm the diagnosis and determine the
specific genetic mutations responsible for the hemoglobinopathy.

4. Supportive care: Management involves providing supportive measures such as blood transfusions
to alleviate anemia, administering medications to control symptoms and prevent complications, and
ensuring adequate nutrition and hydration.

5. Hydroxyurea therapy: In SCD, hydroxyurea is often prescribed to increase fetal hemoglobin

production and reduce the frequency of pain crises.

6. Regular monitoring: Close monitoring of growth, development, blood counts, organ function, and
vaccination status is essential to identify and manage complications promptly.

7. Blood transfusions: Regular blood transfusions may be necessary to manage severe anemia or
prevent complications such as stroke in certain hemoglobinopathies.

8. Hematopoietic stem cell transplantation (HSCT): HSCT can be curative for some children with
severe hemoglobinopathies, providing them with a healthy source of hematopoietic stem cells to
produce normal red blood cells.
- Thalassemias

Definition:

Thalassemias are a group of inherited blood disorders characterized by reduced or absent synthesis
of the alpha or beta chains of hemoglobin. The severity of thalassemias depends on the extent of the
globin chain deficiency and can range from mild to life-threatening.

Types of Thalassemias:

1. Alpha Thalassemia: Alpha thalassemia results from the reduction or absence of alpha globin chain
production. There are four types of alpha thalassemia, depending on the number of affected alpha
globin genes.

2. Beta Thalassemia: Beta thalassemia results from the reduction or absence of beta globin chain
production. It is classified into two types: beta thalassemia major (also known as Cooley's anemia)
and beta thalassemia intermedia.

Clinical Presentation and Complications:

1. Anemia: Thalassemias cause chronic hemolytic anemia, where red blood cells are destroyed at a
faster rate than they can be replaced. This results in fatigue, pale skin, shortness of breath, and
delayed growth and development.

2. Organ damage: Thalassemias can affect various organs, including the spleen, liver, kidneys, heart,
lungs, and brain. Complications such as splenic sequestration, gallstones, heart failure, pulmonary
hypertension, and skeletal deformities may arise.

3. Delayed growth and development: Chronic anemia and the need for frequent medical
interventions can impact a child's growth, development, and educational attainment.

4. Infections: Children with thalassemias may have a higher risk of infections due to compromised
immune function, functional asplenia, or repeated blood transfusions.

Diagnosis and Management:

1. Newborn screening: Many countries include thalassemia screening as part of their newborn
screening programs to identify affected infants early, allowing for timely intervention and
management.

2. Hemoglobin electrophoresis: This laboratory test helps identify the specific type of thalassemia
and provides information on the types and quantities of different hemoglobin variants present.

3. Genetic testing: Genetic testing can be performed to confirm the diagnosis and determine the
specific genetic mutations responsible for thalassemia.

4. Supportive care: Management involves providing supportive measures such as blood transfusions
to alleviate anemia, administering medications to control symptoms and prevent complications, and
ensuring adequate nutrition and hydration.

5. Iron chelation therapy: Patients with thalassemias often require regular blood transfusions, which
can lead to iron overload. Iron chelation therapy is used to remove excess iron from the body to
prevent organ damage.
6. Hematopoietic stem cell transplantation (HSCT): HSCT can be curative for some children with
severe thalassemias, providing them with a healthy source of hematopoietic stem cells to produce
normal red blood cells.

107. Hemolytic anaemias

Definition:

Hemolytic anemias are a group of inherited or acquired blood disorders characterized by the
premature destruction of red blood cells, resulting in anemia. The severity of hemolytic anemias
depends on the extent of red blood cell destruction and the ability of the body to replace them.

Types of Hemolytic Anemias:

1. Hereditary spherocytosis: This is an inherited disorder that causes the red blood cells to be
abnormally shaped and fragile, leading to their destruction and anemia.

2. G6PD deficiency: This is an inherited enzyme deficiency that causes the red blood cells to be more
vulnerable to oxidative stress, leading to their destruction and anemia.

3. Sickle cell disease: This is an inherited disorder that causes the red blood cells to be crescent-
shaped and rigid, leading to their destruction and anemia.

4. Thalassemias: As mentioned earlier, thalassemias also cause hemolytic anemia.

Clinical Presentation and Complications:

1. Anemia: Hemolytic anemias cause chronic anemia, leading to fatigue, pallor, shortness of breath,
and other symptoms associated with reduced oxygen-carrying capacity of the blood.

2. Jaundice: The breakdown of red blood cells produces bilirubin, a yellow pigment that accumulates
in the blood, leading to yellowing of the skin and eyes (jaundice).

3. Gallstones: Excessive bilirubin production can also lead to the formation of gallstones.

4. Enlarged spleen: The spleen plays a critical role in removing damaged or abnormal red blood cells
from circulation, leading to its enlargement in hemolytic anemias.

5. Infections: Patients with hemolytic anemias may be at increased risk of infections, particularly
those caused by encapsulated bacteria, due to functional asplenia (absence of spleen function).

Diagnosis and Management:

1. Blood tests: Hemolytic anemias are typically diagnosed through a combination of blood tests,
including complete blood count, reticulocyte count, and peripheral blood smear.

2. Genetic testing: Genetic testing can be performed to confirm the diagnosis and determine the
specific genetic mutations responsible for hemolytic anemias.

3. Supportive care: Management involves providing supportive measures such as blood transfusions
to alleviate anemia, administering medications to control symptoms and prevent complications, and
ensuring adequate nutrition and hydration.

4. Specific treatment: Depending on the specific type of hemolytic anemia, specific treatments such
as folic acid supplementation for hereditary spherocytosis, avoiding triggers of oxidative stress for
G6PD deficiency, hydroxyurea therapy for sickle cell disease, and hematopoietic stem cell
transplantation for severe cases may be recommended.

108. Lymphadenopthy

Definition:

Lymphadenopathy refers to the enlargement or swelling of lymph nodes, which are small, bean-
shaped structures located throughout the body. It is a common clinical finding and can be indicative
of various underlying conditions, ranging from benign infections to malignancies.

Causes of Lymphadenopathy:

1. Infections: The most common cause of lymphadenopathy is an infection, such as viral, bacterial, or
fungal infections. Examples include upper respiratory infections, mononucleosis, tuberculosis, and
HIV/AIDS.

2. Inflammatory conditions: Autoimmune disorders, such as rheumatoid arthritis and lupus, can
cause generalized lymphadenopathy.

3. Malignancies: Lymphadenopathy can be a sign of lymphomas (Hodgkin's and non-Hodgkin's) or

metastatic cancer that has spread to the lymph nodes from a primary site.

4. Immune disorders: Certain immune disorders, such as sarcoidosis, can lead to the enlargement of
lymph nodes.

5. Medications and vaccinations: Lymphadenopathy can be an adverse reaction to certain

medications or vaccinations.

6. Systemic diseases: Diseases affecting various body systems, such as Kawasaki disease and systemic
lupus erythematosus, can present with lymphadenopathy.

7. Lymphoproliferative disorders: Conditions characterized by the overgrowth of lymphocytes, such

as leukemia or lymphomatoid granulomatosis, can cause lymphadenopathy.

Clinical Presentation and Evaluation:

1. Enlarged lymph nodes: Lymphadenopathy is characterized by the palpable enlargement of one or

more lymph nodes, which may be localized or generalized.

2. Other symptoms: Additional symptoms may be present, depending on the underlying cause, such
as fever, night sweats, fatigue, weight loss, or specific organ-related symptoms.

3. Physical examination: A thorough physical examination, including a detailed assessment of the

lymph nodes, is crucial to determine the location, size, consistency, tenderness, and mobility of the
enlarged lymph nodes.

4. Medical history and laboratory tests: Gathering a comprehensive medical history, including recent
infections, exposures, or medications, and conducting laboratory tests (such as complete blood
count, blood cultures, serology, or imaging studies) aid in identifying the underlying cause of
lymphadenopathy.

5. Biopsy: In some cases, a biopsy of the enlarged lymph node may be performed to determine the
specific cause, especially when malignancy or atypical features are suspected.
Management and Treatment:

1. Treatment of underlying cause: Management primarily focuses on treating the underlying

condition responsible for lymphadenopathy. This may involve antibiotics for bacterial infections,
antiviral medications for viral infections, or specific therapies for malignancies or autoimmune
disorders.

2. Supportive care: Symptomatic relief, such as pain management, rest, hydration, and over-the-
counter medications to reduce inflammation or fever, may be recommended.

3. Close monitoring: Follow-up visits and monitoring of lymph node size, symptoms, and response to
treatment are essential to ensure appropriate management.

109. Sepsis

Definition:

Sepsis is a life-threatening condition that occurs when the body's response to infection leads to
systemic inflammation and organ dysfunction. It is a medical emergency and requires immediate
recognition and intervention. Sepsis can affect children of all ages, from newborns to adolescents.

Causes and Risk Factors:

1. Infections: Sepsis typically arises from bacterial, viral, fungal, or parasitic infections. Common
sources of infection in children include respiratory tract infections, urinary tract infections,
bloodstream infections, and infections of the skin and soft tissues.

2. Immune compromise: Children with weakened immune systems, such as those with congenital
immunodeficiencies, malignancies, or chronic diseases, are at increased risk of developing sepsis.

3. Prematurity: Premature infants have an immature immune system, making them more susceptible
to infections and subsequent sepsis.

4. Invasive medical procedures: Invasive procedures, such as surgery or placement of indwelling

catheters, can introduce pathogens into the bloodstream and increase the risk of sepsis.

5. Chronic illnesses: Children with chronic diseases, such as diabetes, cystic fibrosis, or sickle cell
disease, have a higher risk of developing sepsis due to impaired immune function and increased
susceptibility to infections.

Clinical Presentation and Diagnosis:

1. Fever or hypothermia: Children with sepsis may present with either high fever or low body
temperature.

2. Rapid breathing and increased heart rate: Tachypnea (rapid breathing) and tachycardia (elevated
heart rate) are common signs of sepsis in children.

3. Altered mental status: Children with sepsis may appear irritable, lethargic, or confused.

4. Poor feeding or decreased urine output: Infants with sepsis may have difficulty feeding or show
signs of dehydration with reduced urine output.
5. Laboratory findings: Blood tests may reveal abnormal white blood cell count, elevated
inflammatory markers, abnormal liver or kidney function tests, or signs of coagulation abnormalities.

6. Blood cultures: Blood samples are collected for culture to identify the causative organism.

Management and Treatment:

1. Early recognition and rapid response: Immediate recognition of sepsis symptoms and timely
intervention are crucial. Healthcare providers should initiate appropriate management promptly.

2. Antibiotic therapy: Empiric broad-spectrum antibiotics are administered intravenously to cover the
likely pathogens causing the infection while awaiting culture results. Antibiotic selection is adjusted
based on culture and sensitivity results.

3. Fluid resuscitation: Intravenous fluids are administered to restore adequate circulation and
maintain blood pressure.

4. Oxygen therapy: Children with sepsis may require supplemental oxygen to maintain adequate
oxygenation.

5. Supportive care: Supportive measures include close monitoring of vital signs, oxygen saturation,
and urine output, as well as management of pain and other symptoms.

6. Treatment of the underlying infection: Once the causative organism is identified, targeted therapy
is initiated to eradicate the infection.

7. Pediatric intensive care: Children with severe sepsis or septic shock may require admission to a
pediatric intensive care unit for advanced monitoring and management, including vasopressor
support if needed.

110. Infections mononucleosis

Definition:

Infectious mononucleosis, also known as glandular fever or mono, is a viral infection most commonly
caused by the Epstein-Barr virus (EBV). It primarily affects adolescents and young adults, but can
occur in people of all ages. Infectious mononucleosis is typically self-limiting, but it can cause
significant fatigue and other symptoms that may require supportive care.

Epidemiology and Transmission:

1. Epstein-Barr virus (EBV): EBV is a member of the herpesvirus family and is highly prevalent
worldwide. It is primarily transmitted through saliva, hence its nickname "the kissing disease."
Transmission can also occur through close contact with infected individuals or contact with
contaminated objects, such as utensils or drinking glasses.

2. Adolescents and young adults: Infectious mononucleosis is most common in adolescents and
young adults, but it can affect people of all ages. The incidence decreases with age, as many
individuals acquire immunity to EBV during childhood.
Clinical Presentation and Diagnosis:

1. Fatigue: Profound and prolonged fatigue is a hallmark symptom of infectious mononucleosis. It can
persist for several weeks or even months.

2. Sore throat and swollen lymph nodes: Sore throat is a common initial symptom, often
accompanied by swollen and tender lymph nodes in the neck, armpits, or groin.

3. Fever and malaise: Fever, along with general malaise and body aches, is frequently present.

4. Enlarged spleen and liver: In some cases, the spleen and liver may become enlarged, leading to
abdominal pain or discomfort.

5. Rash: A small percentage of individuals may develop a rash, which is typically a result of an allergic
reaction to medications used to treat symptoms.

6. Laboratory tests: Blood tests can help diagnose infectious mononucleosis by detecting
characteristic changes, such as increased white blood cell count, atypical lymphocytes, and elevated
levels of certain antibodies.

Management and Treatment:

1. Supportive care: Infectious mononucleosis is primarily managed with supportive care to alleviate
symptoms and promote recovery. This includes:

- Rest: Encouraging adequate rest and sleep to combat fatigue.

- Hydration: Promoting fluid intake to prevent dehydration.

- Pain relief: Over-the-counter pain relievers can help reduce fever, sore throat, and body aches.
However, caution should be exercised due to the risk of developing a rash.

2. Avoidance of contact sports: Due to the risk of splenic rupture, individuals with infectious
mononucleosis should avoid contact sports or any activities that may put them at risk of abdominal
trauma.

3. Corticosteroids: In severe cases with significant throat swelling or airway compromise,

corticosteroids may be prescribed to reduce inflammation.

4. Antiviral medications: Antiviral medications are generally not recommended for routine cases of
infectious mononucleosis, as they do not significantly alter the course of the illness.

Complications and Prognosis:

1. Splenic rupture: Although rare, splenic rupture is a potentially life-threatening complication.

Individuals with infectious mononucleosis should avoid activities that increase the risk of abdominal
trauma until the spleen has returned to its normal size.

2. Secondary infections: Secondary bacterial infections, such as streptococcal tonsillitis or sinusitis,

can occur in individuals with infectious mononucleosis. Antibiotics may be necessary if a bacterial
infection is suspected.

3. Prolonged fatigue: Some individuals may experience prolonged fatigue, which can persist for
weeks to months after the acute phase of the illness.

4. Return to normal activities: Gradual return to normal activities should be based on the individual.
111. Childhood leukemias

Definition:

Childhood leukemias are a group of cancers that primarily affect the bone marrow and blood cells.
Leukemias are characterized by the abnormal proliferation of immature white blood cells, which
disrupts normal blood cell production and function. The two main types of childhood leukemias are
acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML).

Epidemiology and Risk Factors:

1. ALL: Acute lymphoblastic leukemia is the most common type of childhood leukemia, accounting
for approximately 75-80% of cases. It is more prevalent in children aged 2-5 years and occurs slightly
more frequently in males.

2. AML: Acute myeloid leukemia is less common in children but has a higher incidence in infants and
adolescents.

3. Genetic predisposition: Certain genetic syndromes, such as Down syndrome and Li-Fraumeni
syndrome, increase the risk of developing leukemia.

4. Environmental factors: Exposure to high doses of ionizing radiation, certain chemicals (e.g.,
benzene), and previous chemotherapy or radiation therapy for other cancers may increase the risk of
developing childhood leukemias.

Clinical Presentation and Diagnosis:

1. General symptoms: Children with leukemia often present with nonspecific symptoms, such as
fatigue, pallor, recurrent infections, fever, weight loss, and easy bruising or bleeding.

2. Bone marrow dysfunction: Leukemia cells replace normal bone marrow cells, leading to reduced
production of red blood cells (anemia), white blood cells (increasing the risk of infections), and
platelets (resulting in bleeding and bruising).

3. Enlarged lymph nodes and organs: Some children may have enlarged lymph nodes, liver, or spleen
due to the accumulation of leukemia cells.

4. Laboratory tests: Diagnosis involves a series of blood tests, including complete blood count, blood
smear examination, and flow cytometry, to identify abnormal cell populations and determine the
specific type of leukemia.

5. Bone marrow aspiration and biopsy: A bone marrow sample is obtained to confirm the diagnosis
and assess the extent of leukemia involvement.

Treatment and Management:

1. Chemotherapy: Chemotherapy is the mainstay of treatment for childhood leukemias. It involves

the use of medications to kill leukemia cells and induce remission. Treatment typically consists of
several phases, including induction, consolidation, and maintenance.

2. Radiation therapy: In some cases, radiation therapy may be used to target specific areas affected
by leukemia, such as the brain or testes.
3. Stem cell transplantation: For high-risk or relapsed cases, stem cell transplantation may be
recommended. It involves replacing diseased bone marrow with healthy stem cells obtained from a
matched donor (allogeneic transplantation) or the patient's own cells (autologous transplantation).

4. Supportive care: Supportive measures are essential to manage the side effects of treatment and
provide emotional and physical support to the child and their family. This includes medications to
prevent infections, transfusions to manage anemia or bleeding, and supportive counseling services.

5. Long-term follow-up: After completion of treatment, regular follow-up visits are necessary to
monitor for any potential late effects of treatment, manage complications, and assess the child's
overall health and well-being.

Prognosis:

1. ALL prognosis: The prognosis for childhood ALL has significantly improved over the years, with cure
rates exceeding 90% in many developed countries. Prognostic factors include age, white blood cell
count at diagnosis, certain genetic abnormalities, and response to initial treatment.

2. AML prognosis: Acute myeloid leukemia has a lower overall cure rate compared to ALL. Prognosis
depends on various factors, including age, genetic abnormalities, response to treatment.

112. Malignant lymphomas

Lymphomas comprise a diverse group of clonal (malignant) lymphoproliferative disorders,
classified by WHO based on lymphocytic origin (lymphoma)
o Hodgkin lymphomas arise from precursor B cells (Reed-Sternberg cells)
▪ Classic Hodgkin lymphoma - 95%
▪ Nodular lymphocyte predominant Hodgkin lymphoma
(NLPHL) - 5%
o Non-Hodgkin lymphomas arise from monoclonal expansion of
malignant B or T cells
▪ B cell lymphomas
▪ B cell acute lymphoblastic lymphoma (ALL)
▪ Chronic lymphocytic lymphoma / small lymphocytic
leukemia (CLL / SLL)
▪ Mantle cell lymphoma
▪ Follicular lymphoma
▪ Marginal zone B cell lymphoma
▪ Extranodal MALT type
▪ Hairy cell leukemia
▪ Plasmacytoma / plasma cell myeloma
 ▪ Diffuse large B cell lymphoma (DLBCL)
▪ Burkitt lymphoma
▪ T / NK cell lymphomas
▪ T cell acute lymphoblastic lymphoma (ALL)
▪ T cell CLL
▪ Mycosis fungoides / Sézary syndrome
▪ Peripheral T cell lymphoma
▪ Angioimmunoblastic T cell lymphoma
▪ Enteropathy associated intestinal T cell lymphoma
▪ Hepatosplenic T cell lymphoma
▪ Anaplastic large cell lymphoma (ALCL)
▪ Extranodal NK / T cell lymphoma, nasal type
Epidemiology

● GI tract is most common site of extranodal non-Hodgkin lymphoma (4 - 20%)

o Esophagus is least common site of GI involvement
▪ < 0.2% of all extranodal non-Hodgkin lymphoma
● Lymphomas comprise < 1% of all esophageal cancers
o Secondary lymphoma (contiguous spread from mediastinal or cervical
lymph nodes) >> primary esophageal disease
o Most originate from mature B cells
▪ Non-Hodgkin lymphoma >> Hodgkin lymphoma
▪ Mostly DLBCL and extranodal marginal zone B cell
lymphoma, MALT type
● Males > females
● Wide age range: 17 - 86 years but usually middle age to older adults
o Younger age of onset in HIV+ patients (40 vs. 60 years)
Sites

● Primary lymphoma:
o Arises in submucosal lymphoid patches
● Secondary lymphoma
o Proximal esophageal involvement may result from adjacent cervical
lymphadenopathy
 o Middle esophageal involvement may be due to mediastinal
lymphadenopathy
o Distal esophageal involvement often secondary to gastric disease
Risk factors

● Chronic immune suppression or dysregulation

o HIV infection
o Chronic hepatitis C infection
Clinical features

● Features of primary lymphoma (Dawson criteria):

o No palpable superficial lymphadenopathy
o Normal chest radiograph with no evidence of lymphadenopathy
o Normal peripheral white blood cell count
o Primary esophageal lesion with only regional adenopathy
o No liver or spleen involvement
● Insidious onset
o Dysphagia (most common)
o Odynophagia
o Chest / abdominal pain
o Weight loss
● Complications

o Hemorrhage
o Vocal cord paralysis / hoarseness
o Stricture / obstruction
o Perforation with esophagomediastinal or esophagotracheobronchial
fistula or mediastinitis
o Vocal cord paralysis
● Relatively poor prognosis
Diagnosis

● Biopsy with ancillary studies (immunohistochemistry, flow cytometry) to confirm

histologic type
Laboratory

● Complete blood count may show:

o Leukocytosis ± blasts (leukemic spread)
o Pancytopenia (bone marrow infiltration)
Radiology description

● Nonspecific radiographic features

 ● Local extension of gastric lymphoma may cause distal esophageal stricture
● Barium swallow / CT: stricture, polypoid or intramural mass
● PET useful for staging
Prognostic factors

● Stage at diagnosis
● Feasibility of surgery or chemotherapy
o Successful management depends on accurate diagnosis and appropriate
subsequent treatment
● Histologic type: MALT lymphoma and Hodgkin lymphoma have better prognoses
than DLBCL or T cell lymphomas
● HIV / AIDS associated with worse outcomes
o Median survival: 4 - 6 months
Treatment

● Primary esophageal lymphoma: local and systemic therapy

o Radiotherapy, chemotherapy
▪ Non-Hodgkin lymphoma: CHOP (cyclophosphamide,
vincristine, prednisone, doxorubicin), rituximab (anti-CD20
monoclonal antibody)
▪ Hodgkin lymphoma: ABVD (doxorubicin, bleomycin,
vinblastine, dacarbazine) or Stanford V (doxorubicin,
vinblastine, mechlorethamine, vincristine, bleomycin,
etoposide, prednisone)
o Surgical resection: diagnostic, curative or palliative
▪ Endoscopic resection for early lesions
● Secondary esophageal lymphoma: chemotherapy
Microscopic (histologic) description

● DLBCL: large centrocytes, centroblasts, immunoblasts and anaplastic large B cells

o Surface Ig+, CD20+, BCL6±, CD10±, CD43±, PAX5+
● Marginal zone B cell lymphoma, MALT type: small lymphocytes, marginal zone
B cells, plasma cells, reactive follicles, lymphoepithelial lesions
o Surface and cytoplasmic Ig+ (IgM > IgG or IgA), CD20+, CD5-, CD10-,
BCL6-, BCL2+, CD43±, cyclin D1-
● Mantle cell lymphoma: small to medium sized, slightly irregular cells with scant
cytoplasm
o Surface IgMD+, CD20+, CD5+, CD10-, CD43+, cyclin D1+
 ● Burkitt lymphoma: medium sized atypical lymphoid cells with round nuclei,
basophilic cytoplasm and tingible body macrophages (starry sky appearance)
o Cytoplasmic lipid droplets are Oil red O+
o Surface IgM+, CD20+, CD10+, BCL6+, BCL2-, Ki67 ~100%
● Follicular lymphoma: mixtures of centrocytes and centroblasts, follicular dendritic
cells
o Surface Ig+, CD20+, CD10+, BCL6+, BCL2+, CD5-, CD43-, cyclin D1-
● Classic Hodgkin lymphoma: Reed-Sternberg cells and variants in a reactive
background
o R-S cells: CD30+, CD15±, PAX5+, ALK-, CD45-, CD3-
● Nodular lymphocyte predominant Hodgkin lymphoma: vague nodules of small
B cells and interspersed large tumor cells (LP cells) with thin nuclear membranes,
fine chromatin and variable nucleoli
o LP cells: CD45+, CD20+, CD15-, CD30-
Positive stains

● CD45 (leucocyte common antigen): most hematopoietic neoplasms

o Notable exceptions: ALCL, classic Hodgkin lymphoma, plasma cell
myeloma
● CD2, CD3, CD4: most T cell neoplasms
● CD5: CLL / SLL, mantle cell lymphoma
● CD10: follicular lymphoma, Burkitt lymphoma, some DLBCL
● CD19, CD20, CD79a: most B cell neoplasms
● CD23: SLL / CLL
● CD30: ALCL, classic Hodgkin lymphoma
● Cyclin D1: mantle cell lymphoma
● EBV: classic Hodgkin lymphoma
● EMA: ALCL, plasmacytoma, LP cells in NLPHL, some T cell lymphomas
● MUM1: classic Hodgkin lymphoma, plasmablastic lymphoma
● PAX5: B cell marker, classic Hodgkin lymphoma
Negative stains

● Most cytokeratins
● Melanocytic markers (S100, HMB45, MelanA, MITF)
● Smooth muscle markers (desmin, caldesmon, smooth muscle actin)
 ● Neuroendocrine markers (chromogranin, synaptophysin, NSE)
Flow cytometry description

● Useful to determine surface and cytoplasmic CD markers

Molecular / cytogenetics description

● Common genetic features of mature B cell lymphomas

o Marginal zone B cell lymphoma, MALT type
▪ IGH clonally rearranged
▪ t(11;18)
o DLBCL
▪ IGH clonally rearranged
▪ t(8;14) c-myc-IGH
▪ t(14;18) IGH-BCL2
o Burkitt lymphoma
▪ IGH clonally rearranged
▪ t(8;14)
▪ t(2;8)
▪ t(8;22)
o Mantle cell lymphoma
▪ IGH clonally rearranged
▪ t(11;14) BCL1-IGH

113. Solid tumors in children

Solid tumors in children are abnormal growths of cells that form a mass or lump. They can
occur in many parts of the body, including the brain, bones, liver, kidneys, and muscles. Here
are some important things to know about solid tumors in children:
1. Types of solid tumors: There are many types of solid tumors that can occur in
children, including neuroblastoma, Wilms tumor, osteosarcoma, Ewing sarcoma,
rhabdomyosarcoma, and brain tumors. Each type of tumor has unique characteristics and
requires different treatment approaches.
2. Symptoms: The symptoms of solid tumors in children can vary depending on the
location of the tumor. Common symptoms include pain, swelling, a lump or mass, fever,
fatigue, and changes in appetite or weight loss. Some tumors may also cause neurological
symptoms, such as headaches, seizures, or difficulty walking.
3. Diagnosis: The diagnosis of solid tumors in children typically involves a combination
of imaging tests, such as X-rays, CT scans, or MRI scans, and biopsy to obtain a tissue sample
for examination. Additional tests, such as blood tests or bone marrow biopsy, may be
necessary to determine the extent of the cancer.
4. Treatment: Treatment for solid tumors in children typically involves a combination of
surgery, chemotherapy, and radiation therapy. The specific treatment plan will depend on
the type and stage of the cancer, as well as the age and overall health of the child. In some
cases, targeted therapy or immunotherapy may also be used to treat solid tumors.
5. Prognosis: The prognosis for solid tumors in children varies depending on the type
and stage of the cancer. Some tumors can be successfully treated, while others may be more
difficult to treat and have a poorer prognosis. Regular follow-up care and monitoring are
important for detecting any recurrence or complications.
Overall, solid tumors in children are a serious and potentially life-threatening condition. Early
detection and prompt treatment are key to improving outcomes for children with solid
tumors.

114. Immune thrombocytopenic purpura

Immune thrombocytopenic purpura (ITP) is a blood disorder characterized by a
decrease in the number of platelets in the blood.

● Thrombocytopenia means a decreased number of platelets in the blood.

● Purpura refers to the purple discoloring of the skin, as with a bruise.

There are two forms of ITP:

● Acute thrombocytopenic purpura. This usually affects young children, ages 2

to 6 years old. The symptoms may follow a viral illness, such as chickenpox.
Acute ITP usually starts suddenly and the symptoms usually disappear in less
than 6 months, often within a few weeks. Treatment is often not needed. The
disorder usually does not recur. Acute ITP is the most common form of the
disorder.
● Chronic thrombocytopenic purpura. The onset of the disorder can happen at
any age, and the symptoms can last a minimum of 6 months, several years, or a
 lifetime. Adults have this form more often than children do, but it does affect
adolescents. Females have it more often than males. Chronic ITP can recur often
and requires continual follow-up care with a blood specialist (hematologist).

What causes idiopathic thrombocytopenic purpura?

In ITP, the immune system is stimulated to attack your body's own platelets. Most often
this is a result of antibody production against platelets. This immune system error may
be a result of any of the following:

● Medications can cause an allergy that cross-reacts with platelets e.g NSAIDS,
Furosemide, Sulfonamides.
● Infections, typically viral infections, including the viruses that cause chicken pox,
hepatitis C, and AIDS, can prompt antibodies that cross-react with platelets.
● Pregnancy
● Immune disorders, such as rheumatoid arthritis and lupus
● Low-grade lymphomas and leukemias may produce abnormal antibodies
against platelet proteins.

What are the symptoms of idiopathic thrombocytopenic purpura?

Normal platelet count is in the range of 150,000 to 450,000. With ITP, the platelet count
is less than 100,000. By the time significant bleeding occurs, you may have a platelet
count of less than 10,000. The lower the platelet count, the greater the risk of bleeding.

Because platelets help stop bleeding, the symptoms of ITP are related to increased
bleeding. However, each person may experience symptoms differently. Symptoms may
include:

● The purple color of the skin after blood has "leaked" under it. A bruise is blood
under the skin. Persons with ITP may have large bruises from no known injury.
Bruises can appear at the joints of elbows and knees just from movement.
● Tiny red dots under the skin that are a result of very small bleeds.
● Nosebleeds
● Bleeding in the mouth and/or in and around the gums
● Heavy menstrual periods
● Blood in the vomit, urine, or stool
● Bleeding in the head. This is the most dangerous symptom of ITP. Any head
injury that occurs when there are not enough platelets to stop the bleeding can
be life threatening.

How is idiopathic thrombocytopenic purpura diagnosed?

In addition to a complete medical history and physical exam, you may have these tests:

● Complete blood count: Isolated thrombocytopenia is the hallmark.

● Additional blood and urine tests. These tests are done to measure bleeding
time and detect possible infections, including a special blood test called an
antiplatelet antibody test.
● Careful review of your medications
● Bone marrow biopsy

How is idiopathic thrombocytopenic purpura treated?

● Steroids. Steroids help prevent bleeding by reducing the rate of platelet

destruction. Steroids, if effective, will result in an increase in platelet counts seen
within 2 to 3 weeks. Side effects may include irritability, stomach irritation,
weight gain, high blood pressure, and acne.
● Intravenous gamma globulin (IVGG). Intravenous gamma globulin (IVGG) is a
protein that contains many antibodies and also slows the destruction of
platelets. IVGG works faster than steroids (within 24 to 48 hours).

IV Rho Immunoglobulin This medication temporarily stops the spleen from

destroying platelets. You must be Rh positive and have a spleen for this
medication to be effective.

● Medication changes. If it is a medication that is the suspected cause,

discontinuation or changing the medication may be necessary.
● Infection treatment. If infection is the cause for ITP, then treatment of the
infection may result in higher platelet counts.
● Splenectomy. In some cases, your spleen may need to be removed since this is the
most active site of antibody mediated platelet destruction. This is considered more
often in people with chronic ITP to decrease the rate of platelet destruction.
● Platelet transfusion. People with severe bleeding or about to go into surgery may
require platelet transfusion.
● Rituximab (Rituxan). This medication is an antibody produced in a lab against a
protein found on the blood cells that make antibodies. It slows the antiplatelet
antibody production.
● Romiplostim (N-plate) and eltrombopag (Promacta). These medications were
recently approved for the treatment of ITP that has failed other types of treatment.
They stimulate the bone marrow to produce more platelets.
115. Hereditary coagulopathies

Congenital bleeding conditions

Hemophilia A and B; Von Willebrand disease.
Congenital thrombophilic conditions
Leiden mutation ; Prothrombin mutation; Antithrombin deficiency; Protein C deficiency; Protein S
deficiency; Hyperhomocysteinemia; Lipoprotein.

Hemophilia A and B
Congenital deficiency of FVIII (A) and FIX (B); recessive, X-linked; Hemophilia A is 5x more
common than hemophilia B; the same clinical picture; FVIII/FIX deficiency leads to impaired
coagulase formation.

Clinical signs are severe bleeding according to the degree of deficiency (bleeding in case of serious
injury → spontaneous bleeding in joints, muscles, bleeding even in case of minimal injury –
intracranial bleeding in newborns, extensive cephalhematoma , bleeding from the navel); bleeding
into the joints → synovial hypertrophy, destruction of joint cartilage, pain, limitation of mobility
("hemophilic arthropathy"); there is no excessive bleeding from small cuts and abrasions ( primary
hemostasis is normal);

● laboratory examination: prolonged APTT; other parameters in the norm

● therapy: substitution of the missing factor with concentrates; in mild form of hemophilia A –
desmopressin acetate.
● do not use acetylsalicylic acid and nonsteroidal antirheumatic drugs.

Von Willebrand disease]

● Deficiency or dysfunction of the von Willebrand factor (vWF) - i.e. quantitative or qualitative
disorder;
● pathophysiology: vWF is formed in vascular endothelium and megakaryocytes; vWF is a
glycoprotein that binds to glycoprotein Ib and IIb/IIIa of blood platelets, thereby stimulating
their aggregation and adhesion to the damaged vessel wall; vWF is a carrier and stabilizer of
FVIII;
● clinical picture: variable bleeding manifestations; often asymptomatic; the most common
manifestations are epistaxis, noticeable formation of hematomas , bleeding after an injury in
the mouth; heavy menstrual bleeding;
● laboratory examination: APTT prolonged and normal; examination of the level of FVIII and
vWF, its antigen (vWF Ag) and functional activity (vWF RCo), examination of ristocetin-
induced platelet aggregation (RIPA) and analysis of vWF multimers; genetic tests;
● therapy: mild forms do not require treatment; severe bleeding – antifibrinolytics,
desmopressin acetate (increases the level of FVIII/vWF), substitution with plasma
concentrate; dispensary in hematology centers.
Congenital thrombophilic conditions

Leiden mutation

● The most common congenital thrombophilic condition (5% of carriers in our population);
● Leiden mutation in factor V gene → resistance to activated protein C;
● Autosomal Dominant inheritance; carriers are mostly asymptomatic (they will not experience
any thrombosis in their lifetime);
● Significantly increased risk of thrombosis in carriers using hormonal contraception. [1]

Prothrombin mutation

● Factor II mutation; in children, a higher frequency of thrombosis in the CNS area.

Antithrombin deficiency

● Tendency to the development of venous thrombosis, already in adolescents and in young

adulthood; homozygous form incompatible with life.

Protein C deficiency

● Heterozygotes – venous thrombosis in childhood; homozygotes – purpura fulminans;

treatment: protein C concentrate.

Protein S deficiency

● Venous and arterial thrombosis.

Hyperhomocysteinemia[

● Venous thrombosis and CNS thrombosis.

116. Acquired coagulopathy, DIC

Acquired coagulation disorders are caused by qualitative or quantitative changes in vasculatures,

platelets, or any of the soluble coagulation factors and inhibitors. Acquired coagulopathy can be
associated with either hemorrhagic or thrombotic tendency, and triggered by a variety of underlying
disease processes including traumatic injury, surgical procedures, liver failure, autoimmune disease,
chronic inflammation, and infections. The primary approaches to acquired coagulopathy are to treat
underlying disease(s), and to apply blood component transfusion, hemostatic, or antithrombotic
therapy as indicated.
Causes of acquired coagulopathies are:

- Vitamin K deficiency

- Liver diseases

- Fibrinolytic defects

- Disseminated intravascular coagulation (DIC)

- Antiphospholipid Syndrome (APS)

Antiphospholipid antibody syndrome (APS) is an autoimmune disease mostly affecting women

between ages 30 and 40. In APS, abnormal proteins (aPL) can cause the formation of clots in veins
and arteries.

In APS patients, the most common venous event is deep vein thrombosis of the lower extremities,
and the most common arterial event is stroke. In pregnant women affected by APS, there is an
increased risk of recurrent miscarriage, intrauterine growth restriction, and preterm birth.

Risk factors for developing antiphospholipid syndrome include:

● Genetic Markers: HLA-DR4, HLA-DR7, and HLA-DRw53

● Race: Blacks, Hispanics, Asians, and Native Americans

Antiphospholipid syndrome is diagnosed using either liquid-phase coagulation assays to detect lupus
anticoagulant or solid phase ELISA (enzyme-linked immunosorbent assay) to detect anti-cardiolipin
antibodies or anti-apolipoprotein antibodies.

Disseminated intravascular coagulation (DIC) is a condition in which blood clots form throughout the
body, blocking small blood vessels. Symptoms may include chest pain, shortness of breath, leg pain,
problems speaking, or problems moving parts of the body. As clotting factors and platelets are used
up, bleeding may occur. This may include blood in the urine, blood in the stool, or bleeding into the
skin. Complications may include organ failure.

Relatively common causes include sepsis, surgery, major trauma, cancer, and complications of
pregnancy. Less common causes include snake bites, frostbite, and burns. There are two main types:
acute (rapid onset) and chronic (slow onset). Diagnosis is typically based on blood tests. Findings may
include low platelets, low fibrinogen, high INR, or high D-dimer.

Treatment is mainly directed towards the underlying condition. Other measures may include giving
platelets, cryoprecipitate, or fresh frozen plasma.

117. Application of blood and blood derivatives in paediatrics

Blood and blood derivatives play an important role in pediatrics, as they are
often used to treat a variety of conditions and disorders. Here are some
common applications of blood and blood derivatives in pediatrics:
1. Anemia: Anemia is a condition characterized by a low level of red blood
cells or hemoglobin in the blood. Children with severe anemia may require
blood transfusions to replace the missing red blood cells. In addition, children
with sickle cell disease may require regular blood transfusions to prevent
complications.

2. Bleeding disorders: Children with bleeding disorders, such as hemophilia

or von Willebrand disease, may require clotting factor replacement therapy to
prevent or control bleeding episodes.

3. Cancer: Children with certain types of cancer, such as leukemia,

lymphoma, or neuroblastoma, may require blood or platelet transfusions as part of
their treatment.

4. Surgery: Children who undergo surgery may require blood transfusions if they
experience significant blood loss during the procedure.

5. Immunodeficiency: Children with certain types of primary immunodeficiency

disorders may require immunoglobulin replacement therapy to boost their immune
system.

6. Infections: Children with severe infections, such as sepsis, may require blood
transfusions to restore their blood volume and oxygen-carrying capacity.

7. Genetic disorders: Children with rare genetic disorders, such as Gaucher disease
or Fabry disease, may require enzyme replacement therapy using blood derivatives.

Overall, blood and blood derivatives are essential components of pediatric care and
can be life-saving in many cases.

118. Accidental poisonings of children and basic principles of treatment

Accidental poisoning is a common problem in young children, who are curious and often explore their
environment by putting things in their mouth. Here are some important things to know about
accidental poisoning in children:

1. Prevention is key: The best way to prevent accidental poisoning is to keep all potentially toxic
substances out of reach of children. This includes household cleaners, medications, pesticides,
and other chemicals. It is also important to keep these substances in their original containers
with child-resistant caps.
2. Recognize the signs of poisoning: The symptoms of poisoning can vary depending on the
substance ingested, but common signs include nausea, vomiting, diarrhea, dizziness,
confusion, seizures, and difficulty breathing.
3. Act quickly: If your child has ingested a toxic substance, do not wait for symptoms to appear
before seeking medical help.
4. Follow treatment guidelines: Treatment for accidental poisoning will depend on the substance
ingested and the severity of the symptoms. In some cases, activated charcoal or other
 medications may be used to absorb the toxin and prevent absorption into the bloodstream. In
severe cases, hospitalization and supportive care may be necessary.
5. Take steps to prevent future incidents: After a case of accidental poisoning, it is important to
take steps to prevent future incidents. This may include re-evaluating storage of toxic
substances, educating children about the dangers of ingesting non-food items, and keeping the
poison control hotline number in a visible location.

Introduction
● Unintentional poisoning is most common in the 12-to-36-month age group.
● Most small children will only take 2 to 3 tablets or one mouthful of substance.
● Serious sequelae are rare.
● Supportive care and observation are the mainstays of treatment.
● Beware of causing harm - a risk assessment is essential before considering decontamination
or treatment.
● Small ingestions of some substances can cause very serious injury in a small child.
One or two tablets that can be lethal to a 10kg toddler

● Calcium channel blockers (eg Diltiazem, Verapamil), especially high dose slow release (SR)
preparations
● Amphtetamines
● Dextropropoxyphene (in "Paradex")
● Tricyclic antidepressants
● Chloroquine
● Opioids
● Sulphonylureas
● Theophylline

Small volumes of non-pharmaceuticals than can result in severe toxicity

● Organophosphates
● Paraquat
● Camphor
● Naphthalene
● Hydrocarbons, Solvents, Eucalyptus oil, Kerosene

Poisoning should be considered in the child with unexplained abnormal vital signs, altered neurology
or metabolic disturbance.
Consider non accidental injury (NAI) in non-ambulatory children, older children or large ingestions.
Older children/adolescents may present with deliberate self harm (intentional poisoning).
Approach to Paediatric Toxicology
1. Resuscitation
2. Risk assessment
3. Supportive care
 4. Decontamination
5. Enhanced elimination
6. Antidotes
7. Disposition
Resuscitation
Resuscitation takes priority over decontamination and administration of antidotes (unless necessary
for resuscitation e.g. NaHCO₃)
Airway
Intubation likely to be indicated in the following situations:
● Cardio-respiratory arrest
● Airway injury
- Corrosive ingestion
- Decreased level of consciousness (GCS<8) or anticipated decrease in GCS
- Prolonged seizures
- Severe agitation or to facilitate treatment/investigations
Breathing
Oxygen/ventilation if required
Circulation
● Support perfusion as needed
- IV fluids (20ml/kg 0.9% NaCl if shocked)
- Inotropes
● Treatment of hypertension (see Hypertension guideline)
- Beta-blockers should be avoided in sympathomimetic toxicity
● Arrhythmia
- NaHCO3 (1mmol/kg repeated as necessary) if sodium channel blocker ingested (Suspect if
prolonged QRS, large R wave in aVR)
- Generally poor response to defibrillation in poisoning

Examples of sodium channel blockers

Tricyclic antidepressants Local anaesthetics

Propranolol - Cocaine
Class 1A and 1C antiarrhthmics - Bupivicaine
- Quinidine Propranolol
- Flecanide Dextropropoxyphene
First generation antihistamines Carbamazepine

Disability
● Sedation (benzodiazepines are the mainstay)
- Midazolam (0.1-0.2mg/kg) is most commonly used
● Seizure control (note - NOT conventional treatment)
- Repeat doses of Midazolam (0.15mg/kg IV)
- Phenobarbitone (20mg/kg IV) as second line
- Phenytoin should NOT be used - Prolongs sodium channel blockade
● Treatment of hypoglycaemia
● Maintain normothermia
- Management of hyperthermia
- Benzodiazepines
- Physical cooling
- May require intubation and paralysis
Risk assessment
Risk assessment is a distinct cognitive process through which the clinician attempts to predict the
likely clinical course and potential complications for the individual patient at that particular
presentation.
Risk assessment should be quantitative and take into account agent, dose, time of ingestion, current
clinical status and individual patient factors (for example, weight and co-morbidities).
The risk assessment is essential to determine the course of the poisoning and will guide treatment,
investigations, period of observation and disposition.
Attempt to elucidate and clearly document:
● What substance(s) have been ingested?
● How much of each substance has been ingested - including a calculation of amount of
substance per kg?
● What time the ingestion occurred?
● What clinical features have occurred thus far?
● What other relevant patient factors (patient weight, other medical problems etc) are
present?
Then discuss with senior staff and/or consult poisons information

If the ingestant is unknown:

Consider all possible medications or toxins accessible in the house
● All family members medications
● Non-pharmaceutical agents
● Drugs of abuse
Conduct tablet counts of missing medication
Consider the worst case scenario, including:
● That all the missing tablets were taken
● That the ingestion time is the latest time possible
● That there has not been significant spillage
● That one child has ingested all of the missing poison.
Focused clinical examination
● Especially important if ingestant is unknown
● Toxidromes
Screening tests
No tests are routine. These will be determined by risk assessment and may include:
● Blood sugar level
● ECG
● Paracetamol level should be requested in all children/young people following any intentional
ingestion
● Other screening tests should be guided by risk assessment
o Other drug levels
o Blood gases
 o Radiology
Supportive care
For most children the only treatment required is good supportive care:
● Observation
● Hydration
● Nutrition
● Sedation
● Treatment of
o Hypo/hyperthermia
o Hypo/hyperglycaemia
o Agitation
o Seizures
Decontamination
This is rarely required and must not distract from resuscitation and supportive care
Skin
Wash off with soapy water
Eyes
Irrigate with 0.9% NaCl until pH is <8.0
GI tract
● Dilution with milk/water is generally not recommended
● Emesis should never be induced
● Gastric lavage is not recommended as no demonstrated benefit compared to a single dose of
activated charcoal.
● Activated charcoal (AC) Is rarely indicated in paediatric poisoning. The use of AC carries a
risk of aspiration and subsequent chemical pneumonitis. Indicated only if ALL of the
following are true:
o Presentation within 1 hour of Ingestion
o Toxin is adsorbed by AC
o Patient is currently maintaining own airway and risk assessment determines that their
GCS will remain normal
o Otherwise only give if airway is protected
o The substance has significant toxicity and is not easily treatable
Dose = 1g/kg
Can be made more palatable by mixing with ice-cream

Toxins not adsorbed by activated charcoal

Acids/alkalis
Alcohols
Metals and ionic compounds (iron, potassium, lithium)
Hydrocarbons

● Whole bowel irrigation (WBI) is very rarely performed.

Indicated if:
o Ingestion of a slow release or extended release substance or a substance not bound to
AC and
o Presentation prior to symptom onset and
o Ingestion is likely to result in significant toxicity despite supportive care or antidote
therapy
 o Polyethylene glycol (Golytely) - 30ml/kg/h until effluent runs clear)

Possible indications for WBI

Iron (>60mg/kg elemental iron ingested)
Sustained release diltiazem/verapamil
Slow release potassium chloride

Enhanced Elimination
This is very rarely required and must not distract from resuscitation and supportive care
Multidose activated charcoal
● Can interrupt enterohepatic circulation and promote gut dialysis
● May be indicated with large ingestions of Carbemazepine, Dapsone, Phenobarbital, Quinine,
Theophylline
● 1g/kg activated charcoal q4h
Urinary alkalinisation
● Alkalinisation promotes ionization of highly acidic drugs, therefore prevents reabsorbtion
across tubule and increases renal excretion.
Indications
● Salicylates (however if severe toxicity this should not detract from urgent haemodialysis)
● Phenobarbitone
Administration
● 1-2 mmol/kg NaHCO3 stat then titrate (can infuse further doses over 1-2 hours)
● Aim for urinary pH >7.5
Extracorporeal elimination (haemodialysis)
● Haemodialysis is effective if toxin is water soluble, low molecular weight, not protein bound
and has a small volume of distribution - e.g. alcohols, lithium, chloral hydrate, amphetamine,
camphor, heavy metals, salicylates, theophylline, valproate or carbamazepine
● Indications are based on drug levels, biochemistry and clinical symptoms.
● Intensive care required
Antidotes
● Pharmacological antagonists and chelating agents
● Only useful in a small minority of poisonings
● Administered when the potential therapeutic effect outweighs the adverse effects
Examples of some available antidotes

POISON ANTIDOTE

Paracetamol N-acetylcysteine - see guideline

Opioids Naloxone

Benzodiazepines Flumazenil
Sodium channel blockers NaHCO3

Iron Desferroxamine

Glipizide Octreotide

Digoxin Digoxin fab-fragments (Digi-bind)

Organophosphates Pralidoxime, atropine

Beta blockers, Ca2+ channel blockers Insulin/dextrose euglycaemic therapy

For further information see Toxicology Handbook (Murray et al). Elsevier. 2007
Disposition
● Should be directed by risk assessment
● Some children can be safely discharged after brief or no observation.
● Others may require admission for ongoing observation and treatment
Unknown ingestant
● Assume worst case scenario - a potentially lethal ingestion
● Observe for a minimum of 12 hours
- Monitor cardio-respiratory status and neurology
- Cardiac monitoring if any evidence of abnormal vital signs
● IV access can be deferred unless evidence of toxicity present
● Investigations
- BSL at presentation and discharge
- ECG
● Discharge only in daylight hours
Other considerations
● Child safety and parental education
- Safe storage of toxins
- Supervision
- Social work review might be indicated
- Consider non-accidental injury
● Discharge instructions
Deliberate self harm
Psychiatric review is mandatory prior to discharge
Prevention
● The prevention of unintentional poisoning should be promoted throughout the community.
● Child resistant packaging and safe storage has been shown to decrease the incidence of
childhood poisoning.
● Other measures include:
- Smaller volume prescribing
- Child resistant lids
- Education about safe storage of medications, out of reach of children
- Store in cupboards with child resistant latches
- Home visits to target this advice

Toxidromes

Toxidrome Effects Examples

Anticholinergic Delirium + peripheral 1st generation

effects antihistamines
Tricyclic antidepressants
Mad as a hatter Antitussives
Confusion, Antipsychotics
hallucinations, seizures, Anticonvulsants
coma Antimuscularinics
Red as a beet - Atropine, Scopolamine,
Flushed skin Ipatroprium bromide
Blind as a bat Plants
Mydriasis - Some mushrooms,
Hot as a hare Datura
Hyperthermia
Dry as a bone
Dry skin, urinary
retention, ileus

Cholinergic D Diaphoresis Insecticides

Diarrhoea (& abdo - Organophosphates
cramps) - Carbamates
U Urination Chemical warfare
M Miosis (or agents
mydriasis) - Ricin, Tabun, Soman,
B Bronchospasm VX
Bronchorrhoea Alzheimer's
Bradycardia medication
Toxidrome Effects Examples

E Emesis - Donepezil
L Lacrimation Agents used for
S Salivation myasthenia gravis

Sympathomimetic Alpha Alpha

- Hypertension - Phenylephrine, OTC
- Bradycardia cold preps
- Mydriasis
Beta
Beta - Salbutamol,
- Hypotension Theophylline, Caffeine
- Tachycardia
- Miosis Alpha and beta
- Amphetamine,
Cocaine,
Pseudo/ephedrine,
OTC cold
preps,MDMA
(ecstasy)

Sedative/hypnotics Decreased LOC Benzodiazepines

Hypoventilation Barbiturates
Hypotension Alcohols
Bradycardia Opioids
Opioids and Anticonvulsants
barbiturates Antipsychotics
- Miosis
- Hypothermia

Serotonergic CNS Antidepressants

- Anxiety, agitation, - SSRIs, SSNRIs,
hallucinations, MAOIs, TCADs
seizures, coma Analgesics
Neuromuscular - Tramadol, Pethidine,
- Tremor Fentanyl
- Hyper-reflexia and Drugs of abuse
clonus (LL>UL) - Amphetamine,
- Myoclonus MDMA (ecstasy),
Toxidrome Effects Examples

- Rigidity LSD
Autonomic "Dietary supplements"
- Flushing/sweating - St John's Wort,
- Tachycardia Ginseng
- Hypertension
- Hyperthermia

Hallucinogenic Hallucinations - Amphetamine

Psychosis - Cannaboids
Panic - Cocaine
Fever - LSD
Mydriasis - PCP
Hypertension - Magic mushroom -
Psilocybin species