EPONYMS (Diseases with named after a person)

Addison's Disease
Addisonian Anemia
Aides tonic pupil

Albright's Syndrome

primary adrenocortical deficiency

pernicious anemia
LARGE pupil. rare, always benign. Fails to constrict to both
accommodation & light. After a prolonged attempt it eventually
constricts but sluggishly. Pupil redilates slowly (tonic).
pseudohypoparathyroidism
Resistance to PTH. Hypocalemia & hyperphosphatemia +
increased PTH (negative feedback).

Alport's Syndrome

Manifestations in the genetic type (Ia): Subcutaneous

ossifications, brachydactyly, obesity, round facies, and short
stature.
X-linked hereditary nephritis with nerve deafness

hematuria, family history of males progressing to end stage

renal disease. Details
progressive dementia. Details
Alzheimer's
small pupil. Loss of light reflex. Mnemonic
Argyll-Robertson Pupil
Arnold-Chiari Malformation herniation of the cerebellar tonsils
columnar metaplasia of the esophagus due to chronic reflux
Barrett's esophagus
esophagitis (precancerous)
hyperreninemia
Bartter's Syndrome
more benign than Duchenne muscular dystrophy
Becker's Muscular
(pseudohypertrophy), appears in the 20s and 30s, no skeletal or
Dystrophy
heart abnormalities (deficiency in dystrophin protein)
(Facial palsy)
Bell's Palsy

Berger's Disease
Berry Aneurysm
Broca's Aphasia
Brown-Sequard

Inflammatory swelling of the facial nerve in the facial canal of

the middle ear, leading in severe cases to an acute compression
neuropathy. Details
IgA nephropathy. Details
aneurysm of the circle of Willis (common cause of subarachnoid
hemorrhage)
Motor Aphasia
hemisection of spinal cord

contralateral loss of pain & temperature

ipsilateral LMN lesion & loss of sensation at the level of the
lesion.

Bruton's Disease
Budd-Chiari
Buerger's Disease

Burkitt's Lymphoma
Caisson Disease
Chagas' Disease

Conn's Syndrome
Creutzfeldt-Jakob

Crigler-Najjar Syndrome

ispilateral hemiplegia, deep sensory loss below the level of the

lesion.
X-linked agammaglobinemia
thrombosis of the hepatic veins. Details
acute inflammation of small, arteries & veins with perivascular
fibrosis which blends artery, vein & nerve into one mass. Occurs
in smokers 95% are males.
painful ischemia progressing to gangrene.
High grade non-Hodgkin's lymphoma. Common in children,
rare in adults. Endemic in Africa.
Gas emboli due rapid decompression (diving).
(American Trypansomiasis) infection with protozoan parasite
Trypanosoma cruzi. Leads to heart affection progressing to heart
failure, achlasia and megacolon. Details
primary hyperaldosteronism. Details
prion disease (Mad Cow disease in cows) is a slow virus
infection of the CNS leading to cerebral degeneration
(progressive dementia). Details
Congenital neonatal jaundice
Type I (Autosomal recessive - no glocuronyl transferase - leads
to kernicterus)
Type II (Autosomal dominant - diminished glocuronyl
transferase).

Crohn's disease

Unconjugated. Details
Inflammatory bowel disease:
Deep with lymphocytic infiltrate
Skip lesions hence cobble stone appearance

Curling's Ulcer

Most commonly found in the terminal ileum. Can affect any

area from mouth to anus. Details
Stress gastritis - associated with major trauma, burns, sepsis,

Cushing's Syndrome
Cushing's Ulcer
de Quervain's Thyroiditis

DiGeorge's Syndrome

Down's Syndrome
Dressler's Syndrome
Dubin-Johnson Syndrome

shock.
Hypercorticism. Details
acute gastritis associated with intracranial lesions
Subacute viral thyroiditis. Transient hyperthyroidism -->
hypothyroidism --> normal.
Exquisitely tender and woody hard and moderately enlarged.
Details
dysmorphogenesis of the third and fourth pharyngeal pouches,
leading to hypoplasia or aplasia of the thymus and parathyroid
glands --> T-cell deficiency & hypoparathyroidism
Trisomy 21
Autoimmune pericarditis following myocardial infarction. Rare.
congenital hyperbilirubinemia

Felty's Syndrome
Gardner's Syndrome
Gaucher's Disease

Autosomal recessive appears at any age. Defect in bilirubin

excretion (conjugated). Liver biopsy shows melanin deposition.
(pseudohypertrophy), appears early, skeletal or heart
abnormalities are common (deficiency in dystrophin protein).
Trisomy 18
defective collagen. Details
reversing of left to right shunt in patients with ASD, VSD,
patent ductus arteriosus resulting in cyanosis. Details
trauma to superior trunk of brachial plexus Waiter's Tip
undifferentiated round cell tumor of bone.
carcinoma in situ on glans penis
Rare, inherited disease in which lack of alpha-galactosidase
causes lipid deposition in the organs leading to organ failure.
impaired proximal tubular reabsorption 2 to lead poisoning or
Tetracycline (glycosuria, hyperphosphaturia, aminoaciduria,
systemic acidosis)
rheumatoid arthritis, neutropenia, splenomegaly
adenomatous polyps of colon plus osteomas & soft tissue tumors
Lysosomal Storage Disease glucocerebrosidase deficiency

Gilbert's Syndrome

hepatosplenomegaly, femoral head & long bone erosion, anemia

congenital hyperbilirubinemia

Duchenne Muscular
Dystrophy
Edwards' Syndrome
Ehlers-Danlos Syndrome
Eisenmenger's Complex
Erb-Duchenne Palsy
Ewing Sarcoma
Eyrthroplasia of Queyrat
Fabry's Disease
Fanconi's Syndrome

defect in glocuronidation & hepatic uptake of bilirubin.

Bilirubin increases by fasting & phenobarbitone (unconjugated).

Glanzmann's
Thrombasthenia
Goodpasture's
Grave's Disease
Guillain-Barre
Hamman-Rich Syndrome
Hand-Schuller-Christian
Hashimoto's Thyroiditis
Hashitoxicosis
Henoch-Schonlein purpura

Appears in young adults, prognosis is excellent.

defective glycoproteins on platelets
autoimmune: ab's to glomerular & alveolar basement
membranes
autoimmune hyperthyroidism (TSI). Details
idiopathic polyneuritis (ascending muscle weakness & paralysis;
usually self-limiting). Details
idiopathic pulmonary fibrosis
chronic progressive histiocytosis
autoimmune hypothyroidism. Details
initial hyperthyroidism in Hashimoto's Thyroiditis that precedes
hypothyroidism. Details
hypersensivity vasculitis
hemmorhagic urticaria (with fever, arthralgias, GI & renal
involvement)

Hirschprung's Disease
Horner's Syndrome
Huntington's
Jacksonian Seizures
Job's Syndrome
Kaposi Sarcoma
Kartagener's Syndrome

Kawasaki Disease
Klinefelter's Syndrome
Kluver-Bucy
Krukenberg Tumor
Laennec's Cirrhosis
Lesch-Nyhan

associated with upper respiratory infections

aganglionic megacolon
ptosis, miosis, anhidrosis (lesion of cervical sympathetic nerves
often 2 to a Pancoast tumor)
progressive degeneration of caudate nucleus, putamen & frontal
cortex; AD
epileptic events originating in the primary motor cortex (area 4)
immune deficiency: neutrophils fail to respond to chemotactic
stimuli
malignant vascular tumor (HHV8 in homosexual men)
Autosomal Recessive. Defect in dynein arms leading to
immotile cilia this in turn leads to sterility and is associated with
situs inversus
mucocutaneous lymph node syndrome (lips, oral mucosa)
47, XXY
bilateral lesions of amygdala (hypersexuality; oral behavior)
adenocarcinoma with signet-ring cells (typically originating
from the stomach) metastases to the ovaries
alcoholic cirrhosis
HGPRT deficiency
gout, retardation, self-mutilation

Letterer-Siwe
Levine sign
Libman-Sacks

Li-Fraumeni syndrome
Lou Gehrig's
Mallory-Weis Syndrome
Marcus-Gunn Pupil

Marfan's
McArdle's Disease
Meckel's Diverticulum

Meig's Syndrome
Menetrier's Disease
Monckeberg's
Arteriosclerosis
Munchausen Syndrome
Nelson's Syndrome
Niemann-Pick

Osler-Weber-Rendu
Syndrome
Paget's Disease
Pancoast Tumor
Parinaud's syndrome

acute disseminated Langerhans' cell histiocytosis

Clenched fist over the sternum is a telling feature of cardiac
pain.
endocarditis with small vegetations on valve leaflets
associated with SLE
Autosomal dominant cancer predisposition syndrome, with
multiple cancers in an individual and their family. Details
Amyotrophic Lateral Sclerosis degeneration of upper & lower
motor neurons. Details
bleeding from esophagogastric lacerations 2 to wretching
(alcoholics)
(Afferent pupillary defect) here repeated swinging of light from
one eye to the other shows constriction of both eyes and
dilatation of the affected eye.
connective tissue defect
glycogen storage disease (muscle phosphorylase deficiency)
rule of 2's: 2 inches long, 2 feet from the ileocecum, in 2% of
the population
embryonic duct origin; may contain ectopic tissue (gastric,
pancreatic, etc.)
Triad: ovarian fibroma, ascites, hydrothorax
giant hypertrophic gastritis (enlarged rugae; plasma protein loss)
calcification of the media (usually radial & ulnar aa.)
factitious disorder (consciously creates symptoms, but doesn't
know why)
1 Adrenal Cushings ----> surgical removal of adrenals ---->
loss of negative feedback to pituitary Pituitary Adenoma
Lysosomal Storage Disease sphingomyelinase deficiency
"foamy histiocytes"
Hereditary Hemorrhagic Telangiectasia
abnormal bone architecture (thickened, numerous fractures ---->
pain)
bronchogenic tumor with superior sulcus involvement ---->
Horner's Syndrome
preauricular lymph node enlargement on the same side as
conjunctivitis.

Parkinson's
Peutz-Jegher's Syndrome
Peyronie's Disease
Pick's Disease
Plummer's Syndrome
Plummer-Vinson
Pompe's Disease
Pott's Disease
Potter's Complex
Ramsay-Hunt's Syndrome

Raynaud's

dopamine depletion in nigrostriatal tracts

melanin pigmentation of lips, mouth, hand, genitalia plus
hamartomatous polyps of small intestine
subcutaneous fibrosis of dorsum of penis
progressive dementia similar to Alzheimer's
hyperthyroidism, nodular goiter, absence of eye signs
(Plummer's = Grave's - eye signs)
esophageal webs & iron-deficiency anemia, - SCCA of
esophagus
glycogen storage disease ----> cardiomegaly
tuberculous osteomyelitis of the vertebrae
renal agenesis ----> oligohydramnios ----> hypoplastic lungs,
defects in extremities
Varicella Zoster infection of the geniculate ganglion. This
results in unilateral lower motor neuron lesions of the facial
nerve.
Disease: recurrent vasospasm in extremities

Reye's Syndrome

Phenomenon: 2 to underlying disease (SLE or scleroderma)

urethritis, conjunctivitis, arthritis non-infectious (but often
follows infections), HLA-B27, polyarticular
microvesicular fatty liver change & encephalopathy

Riedel's Thyroiditis
Rotor Syndrome

2 to aspirin ingestion in children following viral illness

idiopathic fibrous replacement of thyroid
congenital hyperbilirubinemia (conjugated)

Reiter's Syndrome

Schatzki's ring

Sezary Syndrome
Shaver's Disease
Sheehan's Syndrome
Schilling's test
Shy-Drager
Simmond's Disease
Sipple's Syndrome

similar to Dubin-Johnson, but no discoloration of the liver

Lower esophageal ring at the junction between squamous and
columnar epithelium causing dysphagia to solids & liquids
every 3-4 months after a bolus of meat or bread.
leukemic form of cutaneous T-cell lymphoma (mycosis
fungoides)
aluminum inhalation ----> lung fibrosis
postpartum pituitary necrosis
used to diagnose pernicious anemia
parkinsonism with autonomic dysfunction & orthostatic
hypotension
pituitary cachexia
MEN type IIa (pheochromocytoma, thyroid medulla,

Sjogren's Syndrome
Spitz Nevus
Stein-Leventhal
Stevens-Johnson Syndrome
Still's Disease
Takayasu's arteritis

Tay-Sachs
Tetralogy of Fallot
Tietze's syndrome
Tourette's Syndrome
Turcot's Syndrome
Turner's Syndrome
Vincent's Infection
von Gierke's Disease
von Hippel-Lindau

parathyroid)
triad: dry eyes, dry mouth, arthritis - risk of B-cell lymphoma
juvenile melanoma (always benign)
polycystic ovary
erythema multiforme, fever, malaise, mucosal ulceration (often
2 to infection or sulfa drugs)
juvenile rheumatoid arthritis (absence of rheumatoid factor)
aortic arch syndrome
loss of carotid, radial or ulnar pulses
gangliosidosis (hexosaminidase A deficiency ----> GM2
ganglioside)
VSD, overriding aorta, pulmonary artery stenosis, right
ventricular hypertrophy
self limiting costochondritis characterized by chest pain
associated with tenderness.
involuntary actions, both motor and vocal
adenomatous polyps of colon plus CNS tumors
45, XO
"trench mouth" - acute necrotizing ulcerative gingivitis
glycogen storage disease (G6Pase deficiency)
hemangioma (or hemangioblastoma)

adenomas of the viscera, especially renal cell carcinoma

neurofibromatosis & caf au lait spots
von Recklinghausen's
von Recklinghausen's Disease osteitis fibrosa cystica ("brown tumor") 2 to
hyperparathyroidism
of Bone
defect in platelet adhesion 2 to deficiency in vWF
von Willebrand's Disease
proliferation of IgM-producing lymphoid cells
Waldenstrom's
macroglobinemia
Posterior Inferior Cerebellar Artery (PICA) thrombosis
Wallenberg's Syndrome
"Medullary Syndrome"

Waterhouse-Friderichsen

Weber's Syndrome

Ipsilateral: ataxia, facial pain & temp; Contralateral: body pain

& temp
catastrophic adrenal insufficiency 2 to hemorrhagic necrosis
(eg, DIC)
often 2 to meningiococcemia
Paramedian Infarct of Midbrain

Wegener's Granulomatosis
Weil's Disease
Wermer's Syndrome
Wernicke's Aphasia
Wernicke-Korsakoff
Syndrome
Whipple's Disease
Wilson's Disease
Wiskott-Aldrich Syndrome
Wolff-Chaikoff Effect
Zenker's Diverticulum
Zollinger-Ellison

Ipsilateral: mydriasis; Contralateral: UMN paralysis (lower face

& body)
necrotizing granulomatous vasculitis of paranasal sinuses, lungs,
kidneys, etc.
leptospirosis
MEN type I (thyroid, parathyroid, adrenal cortex, pancreatic
islets, pituitary)
Sensory Aphasia impaired comprehension
thiamine deficiency in alcoholics; bilateral mamillary bodies
(confusion, ataxia, ophthalmoplegia)
malabsorption syndrome (with bacteria-laden macrophages) &
polyarthritis
hepatolenticular degeneration (copper accumulation & decrease
in ceruloplasmin)
immunodeficiency: combined B- &T-cell deficiency
(thrombocytopenia & eczema)
high iodine level (--)'s thyroid hormone synthesis
esophageal; cricopharyngeal muscles above UES
gastrin-secreting tumor of pancreas (or intestine) ----> - acid ---> intractable ulcers

HALLMARK FINDINGS
Albumino-Cytologic
Dissociation
Antiplatelet Antibodies
Arachnodactyly
Aschoff Bodies
Auer Rods
Autosplenectomy
Babinski
Basophilic Stippling of RBCs
Bence Jones Protein

Guillain-Barre (markedly increased protein in CSF with only

modest increase in cell count)
idiopathic thrombocytopenic purpura
Marfan's
rheumatic fever
acute myelocytic leukemia
sickle cell anemia
UMN lesion
lead poisoning
multiple myeloma free light chains (either kappa or lambda)

Birbeck Granules
Blue Bloater
Boot-Shaped Heart

Waldenstrom's macroglobinemia
histiocytosis X (eosinophilic granuloma)
Chronic Bronchitis
Tetralogy of Fallot

Bouchard's Nodes
Boutonniere's Deformity
Brown Tumor
Brushfield Spots
Call-Exner Bodies
Cardiomegaly with Apical
Atrophy
Chancre
Chancroid
Charcot Triad
Charcot-Leyden Crystals
Cheyne-Stokes Breathing
Chocolate Cysts
Chvostek's Sign
Clue Cells
Codman's Triangle
Cold Agglutinins

Condyloma Lata
Cotton Wool Spots
Councilman Bodies
Crescents In Bowman's
Capsule
Currant-Jelly Sputum
Curschmann's Spirals
Depigmentation Of
Substantia Nigra
Donovan Bodies
Eburnation
Ectopia Lentis
Erythema Chronicum
Migrans
Fatty Liver
Ferruginous Bodies
Ghon Focus / Complex
Gower's Maneuver

osteoarthritis (PIP)
rheumatoid arthritis
hyperparathyroidism
Down's
granulosa cell tumor
Chagas' Disease
1 Syphilis
Haemophilus ducreyi
multiple sclerosis (nystagmus, intention tremor, scanning
speech)
bronchial asthma
cerebral lesion
endometriosis
Hypocalcemia facial spasm in tetany
Gardnerella vaginitis
osteosarcoma
Mycoplasma pneumoniae
infectious mononucleosis
2 Syphilis
HTN
dying hepatocytes
rapidly progressive (crescentic glomerulonephritis)
Klebsiella
bronchial asthma
Parkinson's
granuloma inguinale (STD)
osteoarthritis (polished, ivory-like appearance of bone)
Marfan's
Lyme Disease
Alcoholism and relatively normal with age and obesity
asbestosis
Tuberculosis (1 & 2, respectively)
Duchenne's MD use of arms to stand

Heberden's Nodes
Heinz Bodies
Hemorrhagic Urticaria
Heterophil Antibodies
Hirano Bodies
Hypersegmented PMNs
Hypochromic Microcytic
RBCs
Jarisch-Herxheimer Reaction

Osteoarthritis (DIP)
G6PDH Deficiency
Henoch-Schonlein
infectious mononucleosis (EBV)
Alzheimer's
Megaloblastic anemia
iron-deficiency anemia

Syphilis over-aggressive treatment of an asymptomatic pt. that

causes symptoms 2 to rapid lysis
osteoarthritis (fractured osteophytes)
Joint Mice
acidosis
Kaussmaul Breathing
SCCA
Keratin Pearls
Wilson's
Keyser-Fleischer Ring
Kimmelstiel-Wilson Nodules diabetic nephropathy
HPV
Koilocytes
measles
Koplik Spots
Parkinson's (eosinophilic inclusions in damaged substantia nigra
Lewy Bodies
cells)
arterial thrombus
Lines of Zahn
neurofibromatosis (von Recklinhausen's disease)
Lisch Nodules
Lumpy-Bumpy IF Glomeruli poststreptococcal glomerulonephritis
appendicitis (McBurney's Point is 2/3 of the way from the
McBurney's Sign
umbilicus to anterior superior iliac spine)
Michealis-Gutmann Bodies Malakoplakia
Monoclonal Antibody Spike multiple myeloma this is called the M protein (usually IgG or
IgA)

Myxedema
Negri Bodies
Neuritic Plaques
Neurofibrillary Tangles
Non-pitting Edema

MGUS
hypothyroidism
rabies
Alzheimer's
Alzheimer's
Myxedema

Notching of Ribs
Nutmeg Liver

Anthrax Toxin
Coarctation of Aorta
CHF

Painless Jaundice
Pannus
Pautrier's Microabscesses
Philadelphia Chromosome

Pick Bodies
Pink Puffer
Podagra
Port-Wine Stain
Posterior Anterior Drawer
Sign
Psammoma Bodies

pancreatic CA (head)
rheumatoid arthritis
mycosis fungoides (cutaneous T-cell lymphoma)
CML
ALL
Pick's Disease
Emphysema Centroacinar smoking Panacinar - a1-antitrypsin
deficiency
gout (MP joint of hallux)
Hemangioma
tearing of the ACL
Papillary adenocarcinoma of the thyroid
Serous papillary cystadenocarcinoma of the ovary
Meningioma

Pseudohypertrophy
Punched-Out Bone Lesions
Rash on Palms & Soles

Mesothelioma
Duchenne muscular dystrophy
multiple myeloma
2 Syphilis

Red Morning Urine

Reed-Sternberg Cells
Reid Index Increased
Reinke Crystals
Rouleaux Formation
S3 Heart Sound

RMSF
paroxysmal nocturnal hemoglobinuria
Hodgkin's Disease
chronic bronchitis
Leydig cell tumor
multiple myeloma RBC's stacked as poker chips
LR Shunt (VSD, PDA)
Mitral Regurg

S4 Heart Sound

LV Failure
Pulmonary Stenosis

Schwartzman Reaction
Simian Crease

Pulmonary HTN
Neisseria meningitidis impressive rash with bugs
Down's

Smith Antigen
Soap Bubble on X-Ray
Spike & Dome Glomeruli
String Sign on X-ray
Target Cells
Tendinous Xanthomas
Thyroidization of Kidney
Tophi
Tram-Track Glomeruli
Trousseau's Sign

SLE (also anti-dsDNA)

giant cell tumor of bone
membranous glomerulonephritis
Crohn's bowel wall thickening
Thalassemia
Familial Hypercholesterolemia
chronic pyelonephritis
gout
membranoproliferative glomerulonephritis
visceral ca, classically pancreatic (migratory thrombophlebitis)
hypocalcemia (carpal spasm)

Virchow's Node
Warthin-Finkeldey Giant
Cells
WBC Casts
Wire Loop Glomeruli
- AFP in amniotic fluid or
mother's serum
- Uric Acid

These are two entirely different disease processes and different

signs, but they unfortunately have the same name.
supraclavicular node enlargement by metastatic carcinoma of
the stomach
Measles
pyelonephritis
lupus nephropathy, type IV
Spina Bifida
Anencephaly
Gout
Lesch Nyhan
Myeloproliferative Disorders

FEV1/FVC

Diuretics (Loop & Thiazides)

COPD

HEART MURMURS

Murmur

Description

Cooing Murmur

Musical murmur

Indication

Holosystolic Murmur

Pansystolic murmur

Innocent Murmur

Functional murmur without anatomic

abnormality for the murmur.

Musical Murmur

Having a musical quality

Pansystolic Murmur

Occupies entire interval of systole.

Regurgitant Murmur

Caused by leakage of an incompetent

heart valve.

Hemic Murmur

Murmur heard, but no valvular lesions.

Due to blood turbulence.

Anemia

Austin Flint Murmur

Presystolic murmur similar to mitral

stenosis, heard at cardiac apex. Caused by
regurgitation from Aorta partially
narrowing the mitral valve.

Aortic Insufficiency

Diamond-Shaped Murmur

Crescendo-Decrescendo murmur

Aortic Stenosis

Flow Murmur

Pulmonic Stenosis
Early Diastolic Murmur

Begins right after the second heart sound.

Aortic Insufficiency

Ejection Murmur

Diamond-shaped systolic murmur ending

before the second heart sound, produced
by the ejection of blood into the Aorta or
Pulmonary Arteries

Aortic Stenosis

Cardiopulmonary Murmur

Related to movement of the heart, and

disappearing when the breath is held.

Innocent

Still's Murmur

Innocent musical murmur resembling a

twanging string

Innocent

Pulmonic Stenosis

Late Systolic Murmur

Diamond-shaped murmur late in systole.

Often accompanied by mid or late systolic
click.

Mitral Valve Prolapse (MVP)

Middiastolic Murmur

Begins after the AV valves have opened in

diastole.

Mitral Stenosis

Presystolic Murmur

Occurs during late diastole, caused by

contraction of the atria.

Mitral Stenosis

Narrowing of the AV
valves
Machinery Murmur

Continuous rumbling murmur, heard

throughout systole and diastole.

Patent Ductus Arteriosus

Extracardiac Murmur

Heard over precordium, but originating

from structures other than the heart

Pericardial Friction Rubs

Graham Steele's Murmur

Early diastolic murmur heard over Erb's

Point.

Pulmonic Insufficiency,
secondary to Pulmonary
Hypertension and Mitral
Stenosis.

Roger's Murmur

Loud pansystolic murmur maximal at the

left sternal border.

Ventricular Septal Defect

(VSD)

MOST COMMON
1 Tumor arising from bone in adults
Adrenal Medullary Tumor Adults
Adrenal Medullary Tumor Children
Bacterial Meningitis adults
Bacterial Meningitis elderly
Bacterial Meningitis newborns
Bacterial Meningitis toddlers
Bone Tumors
Brain Tumor Child
Brain Tumor Adult

Multiple Myeloma
Pheochromocytoma
Neuroblastoma
Neisseria meningitidis
Strep pneumoniae
E. coli
Hib
Metasteses from Breast & Prostate
Medulloblastoma (cerebellum)
Astrocytoma (including Glioblastoma

Multiforme) then: mets, meningioma,

Schwannoma
Invasive Duct Carcinoma
Breast Carcinoma
Fibrocystic Change (Carcinoma is the most
Breast Mass
common is post-menopausal women)
Staph aureus
Bug in Acute Endocarditis
Bug in debilitated, hospitalized pneumonia pt Klebsiella
Hib
Bug in Epiglottitis
Bacteroides (2nd E. coli)
Bug in GI Tract
Bug in IV drug user bacteremia / pneumonia Staph aureus
N. Gonnorrhoeae
Bug in PID
Strep Viridans
Bug in Subacute Endocarditis
Myxoma "Ball Valve"
Cardiac 1 Tumor Adults
Rhabdomyoma
Cardiac 1 Tumor Child
Metasteses
Cardiac Tumor Adults
Dilated (Congestive) Cardiomyopathy
Cardiomyopathy
Renal Disease
Cause of 2 HTN
Autoimmune (2nd infection)
Cause of Addison's
21-Hydroxylase Deficiency (then, 11-)
Cause of Congenital Adrenal Hyperplasia
Exogenous Steroid Therapy (then, 1 - ACTH,
Cause of Cushings
Adrenal Adenoma, Ectopic ACTH)
Pneumonia
Cause of death in Alzheimer pts
MI
Cause of death in Diabetics
Lupus Nephropathy Type IV (Diffuse
Cause of Death in SLE pts.
Proliferative)
Alzheimer's
Cause of Dementia
nd
Multi-Infarct Dementia
Cause of Dementia (2 most common)
Staph aureus
Cause of food poisoning
Down's
Cause of mental retardation
nd
Fragile X
Cause of mental retardation (2 most
common)
Chlamydia
Cause of preventable blindness
COPD
Cause of Pulmonary HTN
Small Cell Carcinoma of the Lung
Cause of SIADH
Down's
Chromosomal disorder
VSD (membranous > muscular)
Congenital cardiac anomaly
Tetralogy of Fallot
Congenital early cyanosis
LAD
Coronary Artery thrombosis

Multiple Sclerosis
Demyelinating Disease
Iron
Dietary Deficiency
Disseminated opportunistic infection in AIDS CMV (Pneumocystis carinii is most common
overall)
SCCA
Esophageal cancer
Cystic Fibrosis
Fatal genetic defect in Caucasians
Leimyoma
Female Tumor
Immunologic (Bence Jones protein in multiple
Form of Amyloidosis
myeloma is also called the Amyloid Light
Chain)
Ulceroglandular
Form of Tularemia
Endometrial Carcinoma
Gynecologic malignancy
Mitral Valve Prolapse
Heart Murmur
Mitral
Heart Valve in bacterial endocarditis
Tricuspid
Heart Valve in bacterial endocarditis in IV
drug users
Mitral then Aortic
Heart Valve involved in Rheumatic Fever
Von Willebrand's Disease
Hereditary Bleeding Disorder
Hepatoma
Liver 1 Tumor
Alcoholic Liver Disease
Liver Disease
Above Tentorium
Location of Adult brain tumors
Below Tentorium
Location of Childhood brain tumors
Gaucher's
Lysosomal Storage Disease
ALS
Motor Neuron Disease
Leukemia
Neoplasm Child
nd
Medulloblastoma of brain (cerebellum)
Neoplasm Child (2 most common)
Membranous Glomerulonephritis
Nephrotic Syndrome
PCP
Opportunistic infection in AIDS
Serous Cystadenoma
Ovarian Malignancy
Hamartoma
Ovarian Tumor
Adeno (usually in the head)
Pancreatic Tumor
ALL - Child / CLL - Adult over 60 / AML Patient with ALL / CLL / AML / CML
Adult over 60 / CML - Adult 35-50
Young male
Patient with Goodpasture's
Male
Patient with Reiter's
Prolactinoma (2nd Somatotropic "Acidophilic"
Pituitary Tumor
Adenoma)
Adenomas (followed by: hyperplasia, then
Primary Hyperparathyroidism

Pt. With Hodgkin's

Pt. With Minimal Change Disease
Secondary Hyperparathyroidism
Sexually transmitted disease
Site of Diverticula
Site of metastasis
Site of metastasis (2nd most common)
Sites of atherosclerosis
Skin Cancer
Stomach cancer
Testicular Tumor
Thyroid Cancer
Tracheoesophageal Fistula
Tumor of Infancy
Type of Hodkin's

Type of Non-Hodgkin's
Vasculitis (of medium & small arteries)
Viral Encephalitis
Worm infection in US

carcinoma)
Young Male (except Nodular Sclerosis type
Female)
Young Child
Hypocalcemia of Chronic Renal Failure
Chlamydia
Sigmoid Colon
Regional Lymph Nodes
Liver
Abdominal aorta > coronary > popliteal >
carotid
Basal Cell Carcinoma
Adeno
Seminoma
Papillary Carcinoma
Lower esophagus joins trachea / upper
esophagus blind pouch
Hemangioma
Mixed Cellularity (versus: lymphocytic
predominance, lymphocytic depletion, nodular
sclerosis)
Follicular, small cleaved
Temporal Arteritis
HSV
Pinworm (2nd Ascaris)

TABLE of GENETIC DISORDERS

Disease

Cystic Fibrosis

Category

Pathogenesis / Heredity

Pathology, Cardinal
Symptoms

Autosomal Recessive. CFTR gene

defect on Chrom 7 ------> No Cltransport and failure to hydrate
mucous secretions (no NaCl
transport) ------> excessively

Meconium ileus (caused

by thick, mucoid
meconium), respiratory
bronchiectasis,
Pseudomonas

viscous mucoid exocrine secretions pneumonia, pancreatic

insufficiency, hypertonic
(high Cl- concentration)
sweat.
Fanconi Anemia

Autosomal Recessive congenital

pancytopenia.

Normocytic anemia with

neutropenia.

Short stature,
microcephaly,
hypogenitalism,
strabismus, anomalies
of the thumbs, radii,
and kidneys, mental
retardation, and
microphthalmia.
Hartnup's Disease

Autosomal Recessive. Defect in GI

uptake of neutral amino acids -----> malabsorption of tryptophan
(niacin precursor) ------> niacin
deficiency among other things.

Pellagra-like syndrome
(diarrhea, dementia,
dermatitis), lightsensitive skin rash,
temporary cerebellar
ataxia.

Kartagener's
Syndrome

Autosomal Recessive. Defect in

dynein arms ------> lost motility of
cilia

Recurrent
sinopulmonary
infections (due to
impaired ciliary tract).
Situs inversus, due to
impaired ciliary motion
during embryogenesis:
lateral transposition of
lungs, abdominal and
thoracic viscera are on
opposite sides of the
body as normal. Possible
dextrocardia, male
sterility.

Pyruvate
Dehydrogenase

Autosomal Recessive. Pyruvate

Dehydrogenase deficiency ------>

Neurologic defects.

Deficiency

buildup of lactate and pyruvate -----> lactic acidosis.

Treatment: Increase
intake of ketogenic
nutrients (leucine,
lysine) ------> increase
formation of AcetylCoA from other
sources.

Xeroderma
Pigmentosum

Autosomal Recessive. Defect in

DNA repair, inability to repair
thymine dimers resulting from UVlight exposure ------> excessive skin
damage and skin cancer.

Dry skin, melanomas,

pre-malignant lesions,
other cancers.
Ophthalmic and
neurologic abnormalities.

Familial
Autosomal
Hypercholesterolemia Dominant
Disorders

A group of inherited diseases

associated with
hypercholestrolemia.

Heterozygous:
accelerated
atherosclerosis.
Homozygous: accelerated
atherosclerosis, MI by
age 35, xanthomas.

Hereditary
Hemorrhagic
Telangiectasia (OslerWeber-Rendu
Syndrome)

Autosomal
Dominant
Disorders

Autosomal Dominant.

Telangiectasias of skin
and mucous membranes.

Hereditary
Spherocytosis

Autosomal
Dominant
Disorders

Autosomal Dominant. Band-3

deficiency in RBC membrane ------>
spherical shape to cells. Other RBC
structural enzyme deficiencies can
cause it, too.

Sequestration of
spherocytes in spleen -----> hemolytic anemia.

Huntington's Disease

Autosomal
Dominant
Disorders

Autosomal Dominant, 100%

penetrance.

Progressive dementia
with onset in adulthood,
choreiform movements,
Genetic defect on Chrom 4 ------ athetosis.

> atrophy of caudate nuclei,

putamen, frontal cortex.

Marfan's Syndrome

Autosomal
Dominant
Disorders

Autosomal Dominant. Fibrillin

deficiency ------> faulty scaffolding
in connective tissue (elastin has no
anchor).

Arachnodactyly,
dissecting aortic
aneurysms, ectopia lentis
(subluxation of lens),
mitral valve prolapse.

Neurofibromatosis
(Von Recklinghausen
Disease)

Autosomal
Dominant
Disorders

Autosomal Dominant. NF1 gene

defect (no GTPase protein) ------>
dysregulation of Ras tumorsuppressor protein.

Multiple neurofibromas
(Caf au Lait spots) which
may become malignant,
Lisch nodules (pigmented
hamartomas of the iris).

Increased risk for

tumors:
pheochromocytoma,
Wilms tumor,
Rhabdomyosarcoma,
leukemias.
Tuberous Sclerosis

Autosomal
Dominant
Disorders

Autosomal Dominant.

Tubers (glial nodules),

seizures, mental
retardation. Associated
with adenoma sebaceum
(facial lesion), myocardial
rhabdomyomas, renal
angiomyolipomas.

Von Hippel-Lindau
Syndrome

Autosomal
Dominant
Disorders

Autosomal Dominant, short arm of

chromosome 3. Same genetic
region is associated with incidence
of renal cell carcinoma.

(1) Hemangioblastomas
of cerebellum, medulla,
or retina, (2) adenomas,
(3) cysts in visceral
organs. High risk for renal
cell carcinoma.

Congenital Fructose
Intolerance

Carbohydrate
Metabolism
Defect

Autosomal Recessive. Aldolase B

deficiency ------> buildup of
Fructose-1-Phosphate in tissues -----> inhibit glycogenolysis and
gluconeogenesis.

Severe hypoglycemia.
Treatment: Remove
fructose from diet.

Galactosemia

Carbohydrate
Metabolism
Defect

Autosomal Recessive. Inability to

convert galactose to glucose ------>
accumulation of galactose in many
tissues.

(1) Classic form: Galactose-1phosphate Uridyltransferase

deficiency.
(2) Rarer form: Galactokinase
deficiency.

Failure to thrive, infantile

cataracts, mental
retardation. Progressive
hepatic failure, cirrhosis,
death.

Galactokinasedeficiency: infantile
cataracts are prominent.
Treatment: in either
case, remove galactose
from diet.

Angelman Syndrome

Chromosomal Deletion of part of short arm of

chromosome 15, maternal copy.
An example of genomic
imprinting.

Mental retardation,
ataxic gait, seizures.
Inappropriate laughter.

Cri du Chat Syndrome

Chromosomal 5p-, deletion of the long arm of

chromosome 5.

"Cry of the cat." Severe

mental retardation,
microcephaly, cat-like
cry. Low birth-weight,
round-face,
hypertelorism (wide-set
eyes), low-set ears,
epicanthal folds.

Down Syndrome

(Trisomy 21)

Chromosomal Trisomy 21, with risk increasing

with maternal age. Familial form
(no age-associated risk) is
translocation t(21,x) in a minority
of cases.

Most common cause of

mental retardation. Will
see epicanthal folds,
simian crease, brushfield
spots in eyes. Associated
syndromes: congenital
heart disease, leukemia,
premature Alzheimer's
disease (same
morphological changes).

Edward's Syndrome

Chromosomal Trisomy 18

Mental retardation,
micrognathia, rocker-

bottom feet, congenital

heart disease, flexion
deformities of fingers.
Death by 1 year old.

(Trisomy 18)

Chromosomal Trisomy 13

Mental retardation,
microphthalmia, cleft lip
and palate, polydactyly,
rocker-bottom feet,
congenital heart disease.
Similar to and more
severe than Edward's
Syndrome. Death by 1
year old.

Prader-Willi
Syndrome

Chromosomal Deletion of part of short arm of

chromosome 15, paternal copy.
An example of genomic
imprinting.

Mental retardation, short

stature, hypotonia,
obesity and huge
appetite after infancy.
Small hands and feet,
hypogonadism.

Fragile-X Syndrome

Chromosomal Progressively longer tandem

repeats on the long arm of the XSex
chromosome. The longer the
chromosome number of repeats, the worse the
syndrome. Tandem repeats tend
to accumulate through
generations.

Second most common

cause of mental
retardation next to Down
Syndrome. Macroorchidism (enlarged
testes) in males.

Klinefelter's
Syndrome (XXY)

Chromosomal Non-disjunction of the sex

chromosome during Anaphase I of
Sex
meiosis ------> Trisomy (47,XXY)

Hypogonadism, tall
stature, gynecomastia.
Mild mental retardation.
Usually not diagnosed
until after puberty. One
Barr body seen on buccal
smear.

Patau's Syndrome

(Trisomy 13)

chromosome

Turner's Syndrome
(XO)

Chromosomal Non-disjunction of the sex

chromosome during Anaphase I of
Sex
meiosis ------> Monosomy (45,X)

chromosome

XXX Syndrome

Chromosomal Trisomy (47,XXX) and other

multiple X-chromosome
Sex
abnormalities.

chromosome

Ehlers-Danlos
Syndrome

Connective
Tissue
disease

Various defects in collagen

synthesis.

Type-I: Autosomal
dominant, mildest form.
Type-IV: autosomal
dominant. Defect in
reticular collagen (type-III)
Type-VI: autosomalrecessive.
Type-VII: Defect in
collagen type I
Type-IX: X-linked recessive

Streak gonads, primary

amenorrhea, webbed
neck, short stature,
coarctation of Aorta,
infantile genitalia. No
mental retardation. No
Barr bodies visible on
buccal smear.
Usually phenotypically
normal. May see
menstrual abnormalities
or mild mental
retardation in some
cases.

Laxity of joints,
hyperextensibility of
skin, poor wound
healing, aneurysms.

Osteogenesis
Imperfecta

Connective
tissue disease

Defects in Collagen Type I

formation.

Type-I:
Diaphragmatic
hernia. Common,
normal lifeexpectancy.
Type-IV:
Ecchymoses,
arterial rupture.
Dangerous due
to rupture
aneurysms.
Type-VI: Retinal
detachment,
corneal rupture

Multiple fractures after

birth, blue sclerae, thin
skin, progressive
deafness in some types
(due to abnormal middle

ear ossicles).

Type-I is most
common; Type-II is
most severe; Type-IV
is mildest form.
Glycogen
Storage
Disease

Autosomal Recessive. Debranching Stunted growth,

enzyme deficiency (can only break hepatomegaly,
down linear chains of glycogen,
hypoglycemia.
not at branch points) ------>
accumulate glycogen in liver,
heart, skeletal muscle.

Glycogen
Storage
Disease

Autosomal Recessive. muscle

phosphorylase deficiency (cannot
utilize glycogen in skeletal muscle)
------> accumulation of glycogen in
skeletal muscle.

Muscle cramps, muscle

weakness, easy
fatigability.
Myoglobinuria with
strenuous exercise.

Glycogen
Storage
Disease

Autosomal Recessive. alpha-1,4Glucosidase deficiency (cannot

break down glycogen) ------>
accumulate glycogen in liver,
heart, skeletal muscle.

Cardiomegaly,
hepatomegaly, and
systemic findings, leading
to early death.

Glycogen
Storage
Disease

Autosomal Recessive. Glucose-6Phosphatase deficiency (cannot

break down glycogen) ------>
accumulate glycogen in liver and
kidney.

Severe fasting
hypoglycemia,
hepatomegaly from lots
of glycogen in liver.

Hemophilia A (Factor
VIII Deficiency)

Hemophilia

X-Linked Recessive. Factor VIII

deficiency

Hemorrhage, hematuria,
hemarthroses. Prolonged
PTT.

Hemophilia B (Factor
IX Deficiency)

Hemophilia

X-Linked Recessive. Factor IX

deficiency.

Milder than Hemophilia

A. Hemorrhage,
hematuria,
hemarthroses. Prolonged

Cori's Disease

(Glycogen Storage
Disease Type III)

McArdle's Disease

(Glycogen Storage
Disease Type V)

Pompe's Disease

(Glycogen Storage
Disease Type II)

Von Gierke's Disease

(Glycogen Storage
Disease Type I)

PTT.
Von Willebrand
Disease

Ataxia-Telangiectasia

Hemophilia

Immune
deficiency

Combined
Deficiency

Chdiak-Higashi
Syndrome

Immune
deficiency

Phagocyte
Deficiency

Chronic
Granulomatous
Disease

Immune
deficiency

Phagocyte
Deficiency

Chronic
Mucocutaneous
Candidiasis

Immune
deficiency

T-Cell
Deficiency

Autosomal dominant and recessive

varieties. Von Willebrand Factor
deficiency ------> defect in initial
formation of platelet plugs, and
shorter half-life of Factor VIII in
blood.

Hemorrhage, similar to
hemophilia.

Autosomal Recessive. Unknown.

Numerous chromosomal breaks
and elevated AFP is found.
Symptomatic by age 2 years.

Cerebellar ataxia,
telangiectasia (enlarged
capillaries of face and
skin), B and T-Cell
deficiencies, IgA
deficiency.

Defect in polymerization of
microtubules in neutrophils ------>
failure in neutrophil migration and
phagocytosis. Also results in failure
in lysosomal function in
neutrophils.

Recurrent pyogenic
infections,
Staphylococcus,
Streptococcus.

X-Linked (usually) NADPH Oxidase

deficiency ------> no formation of
peroxides and superoxides ------>
no oxidative burst in phagocytes.

Failure of phagocytes
leads to susceptibility to
infections, especially
Staph Aureus and
Aspergillus spp. B and T
cells usually remain
normal.

T-Cell deficiency specific to

Candida.

Selective recurrent
Candida infections. Treat
with anti-fungal drugs.

Type-I: Most mild.

Type-II: Intermediate.
Type-III: most severe,
with recessive
inheritance (complete
absence).

Job's Syndrome

Immune
deficiency

Phagocyte
Deficiency

Selective IgA
Deficiency

Immune
deficiency

A failure to produce gammaInterferon by T-Helper cells,

leading to an increase in TH2 cells
(no negative feedback) ------>
excessively high levels of IgE.

High histamine levels,

eosinophilia. Recurrent
cold (non-inflammatory)
Staphylococcal abscesses
(resulting from high
histamine), eczema.

IgA deficiency may be due to a

failure of heavy-chain gene
switching.

The most common

congenital immune
deficiency. There also
exists selective IgM and
IgG deficiencies, but they
are less common.

Autosomal Recessive. Adenosine

Deaminase deficiency ------>
accumulation of dATP ------>
inhibit ribonucleotide reductase -----> decrease in DNA precursors

Severe deficiency in both

humoral and cellular
immunity, due to
impaired DNA synthesis.
Bone marrow transplant
may be helpful in
treatment.

Failure of development of the 3rd

and 4th Pharyngeal Pouches ------>
agenesis of the thymus and
parathyroid glands.

T-Cell deficiency from no

thymus. Hypocalcemic
tetany from primary
parathyroid deficiency.

Inability to mount initial IgM

response to the capsular
polysaccharides of pyogenic
bacteria.

In infancy, recurrent
pyogenic infections,
eczema,
thrombocytopenia,
excessive bleeding. IgG
levels remain normal.

X-Linked. Mutation in gene coding

for tyrosine kinase causes failure
of Pre-B cells to differentiate into
B-Cells.

Recurrent pyogenic
infections after 6 months
(when maternal
antibodies wear off). Can
treat with polyspecific

B-Cell
Deficiency

Severe Combined
Immunodeficiency
(SCID)

Immune
deficiency

Combined
Deficiency

Thymic Aplasia
(DiGeorge Syndrome)

Immune
deficiency

T-Cell
Deficiency
Wiskott-Aldrich
Syndrome

Immune
deficiency

Combined
Deficiency

X-Linked
Agammaglobulinemia
(Bruton's Disease)

Immune
deficiency

B-Cell
Deficiency

gamma globulin
preparations.
Fabry's Disease

Lysosomal
Storage
Disease

X-Linked Recessive. alphaGalactosidase A deficiency ------>

buildup of ceramide trihexoside in
body tissues.

Gaucher's Disease

Lysosomal
Storage
Disease

Autosomal Recessive.
Glucocerebrosidase deficiency -----> accumulation of
glucocerebrosides (gangliosides,
sphingolipids) in lysosomes
throughout the body.

Angiokeratomas (skin
lesions) over lower trunk,
fever, severe burning
pain in extremities,
cardiovascular and
cerebrovascular
involvement.

Niemann-Pick
Lipidosis

Lysosomal
Storage
Disease

Autosomal Recessive.
Sphingomyelinase deficiency -----> accumulation of sphingomyelin
in phagocytes.

Type-I: Adult
form. 80% of
cases, retain
partial activity.
Hepatosplenome
galy, erosion of
femoral head,
mild anemia.
Normal lifespan
with treatment.
Type-II: Infantile
form. Severe CNS
involvement.
Death before age
1.
Type-III: Juvenile
form. Onset in
early childhood,
involving both
CNS and viscera,
but less severe
than Type II.

Sphingomyelincontaining foamy
histiocytes in
reticuloendo-thelial
system and spleen.
Hepatosplenomegaly,
anemia, fever,
sometimes CNS

deterioration. Death by
age 3.
Hunter's Syndrome

Lysosomal
Storage
Disease

X-Linked Recessive. Liduronosulfate sulfatase

deficiency ------> buildup of
mucopolysaccharides (heparan
sulfate and dermatan sulfate)

Similar to but less severe

than Hurler Syndrome.
Hepatosplenomegaly,
micrognathia, retinal
degeneration, joint
stiffness, mild
retardation, cardiac
lesions.

Hurler's Syndrome

Lysosomal
Storage
Disease

Autosomal Recessive. alpha-Liduronidase deficiency ------>

accumulation of
mucopolysaccharides (heparan
sulfate, dermatan sulfate) in heart,
brain, liver, other organs.

Gargoyle-like facies,
progressive mental
deterioration, stubby
fingers, death by age 10.
Similar to Hunter's
Syndrome.

Tay-Sachs Disease

Lysosomal
Storage
Disease

Autosomal Recessive.
Hexosaminidase A deficiency -----> accumulation of GM2 ganglioside
in neurons.

CNS degeneration,
retardation, cherry redspot of macula, blindness
(amaurosis). Death
before age 4.

Albinism

Nitrogen
Metabolism
Defect

Autosomal Recessive. Tyrosinase

deficiency ------> inability to
synthesize melanin from tyrosine.
Can result from a lack of migration
of neural crest cells.

Depigmentation, pink
eyes, increased risk of
skin cancer.

Alkaptonuria

Nitrogen
Metabolism
Defect

Autosomal Recessive.
Homogentisic Oxidase deficiency
(inability to metabolize Phe and
Tyr) ------> buildup and urinary
excretion of homogentisic acid.

Urine turns dark and

black on standing,
ochronosis (dark
pigmentation of fibrous
and cartilage tissues),
ochronotic arthritis,
cardiac valve
involvement. Disease is

generally benign.
Homocystinuria

Nitrogen
Metabolism
Defect

Autosomal Recessive.
Cystathionine synthase defect
(either deficiency, or lost affinity
for pyridoxine, Vit. B6) ------>
buildup of homocystine and
deficiency of cysteine.

Mental retardation,
ectopia lentis, sparse
blond hair, genu valgum,
failure to thrive,
thromboembolic
episodes, fatty changes
of liver.

Treatment: Cysteine
supplementation, give
excess pyridoxine to
compensate for lost
pyridoxine affinity.
Lesch-Nyhan
Syndrome

Nitrogen
Metabolism
Defect

X-Linked Recessive. HypoxanthineGuanine

Phosphoribosyltransferase
(HGPRT) deficiency ------> no
salvage pathway for purine resynthesis ------> buildup of purine
metabolites

Hyperuricemia (gout),
mental retardation, selfmutilation (autistic
behavior),
choreoathetosis,
spasticity.

Maple Syrup Urine

Disease

Nitrogen
Metabolism
Defect

Autosomal Recessive. Deficiency of

branched chain keto-acid
decarboxylase ------> no
degradation of branched-chain
amino acids ------> buildup of
isoleucine, valine, leucine.

Severe CNS defects,

mental retardation,
death. Person smells like
maple syrup or burnt
sugar. Treatment:
remove the amino acids
from diet.

Phenylketonuria
(PKU)

Nitrogen
Metabolism
Defect

Autosomal Recessive.
Phenylalanine hydroxylase
deficiency (cannot break down Phe
nor make Tyr) ------> buildup of
phenylalanine, phenyl ketones
(phenylacetate, phenyl lactate,
phenylpyruvate) in body tissues
and CNS.

Symptoms result from

accumulation of
phenylalanine itself.
Mental deterioration,
hypopigmentation (blond
hair and blue eyes),
mousy body odor (from
phenylacetic acid in urine

and sweat).

Treatment: remove
phenylalanine from
diet.
Glucose-6-Phosphate
Dehydrogenase
(G6PD) Deficiency

RBC Disease

X-Linked Recessive. Glucose-6Phosphate Dehydrogenase (G6PD)

deficiency ------> no hexose
monophosphate shunt ------>
deficiency in NADPH ------>
inability to maintain glutathione in
reduced form, in RBC's

Susceptibility to oxidative
damage to RBC's, leading
to hemolytic anemia.
Can be elicited by drugs
(primaquine,
sulfonamides, aspirin),
fava beans (favism).
More prevalent in blacks.

Glycolytic enzyme
deficiencies

RBC Disease

Autosomal Recessive. Defect in

hexokinase, glucose-phosphate
isomerase, aldolase, triosephosphate isomerase, phosphateglycerate kinase, or enolase. Any
enzyme in glycolysis pathway.

Hemolytic anemia results

from any defect in the
glycolysis pathway, as
RBC's depend on
glycolysis for energy.

Autosomal Recessive
Polycystic Kidney
Disease (ARPKD)

Renal

Autosomal Recessive.

Numerous, diffuse
bilateral cysts formed in
the collecting ducts.
Associated with hepatic
fibrosis.

Bartter's Syndrome

Renal

Juxtaglomerular Cell Hyperplasia,

leading to primary hyperreninemia.

Elevated renin and

aldosterone, hypokalemic
alkalosis. No
hypertension.

Fanconi's Syndrome
Type I

Renal

Autosomal Recessive. Deficient

resorption in proximal tubules.

(1) Cystine deposition

throughout body,
cystinuria. (2) Defective
tubular resorption leads
to amino-aciduria,
polyuria, glycosuria,
chronic acidosis;

(Child-onset
cystinosis)

Hypophosphatemia and
Vitamin-D-resistant
Rickets.
Fanconi's Syndrome II

Renal

Autosomal Recessive. Defective

resorption in proximal tubules.

Similar to Fanconi
Syndrome Type I, but
without the cystinosis.
Adult onset
osteomalacia, aminoaciduria, polyuria,
glycosuria.

Renal

Autosomal Dominant.

Numerous, disparate,
heterogenous renal cysts
occurring bilaterally.
Onset in adult life.
Associated with liver
cysts.

(Adult-onset)

Autosomal Dominant
Polycystic Kidney
Disease (ADPKD)

Autosomal
Dominant
Disorders

SYNDROMES

ENVIRONMENTAL CAUSES

ACUTE RADIATION SYNDROME: Radiation exposure.

o 12 hours post-exposure: Vomiting
o 24 hours post-exposure: Prostration (extreme exhaustion), fever, diarrhea
o Later: Petechial hemorrhage, hypotension, tachycardia, profuse bloody diarrhea, maybe
death.
CHINESE RESTAURANT SYNDROME: MSG reaction ------> Chest Pain, burning sensation over
parts of body.
BROWN-SEQUARD SYNDROME: Damage (injury) to half of spinal cord ------> symptoms:
o Loss of pain and temperature sensation on contralateral side of body.
o Loss of proprioception and discriminatory touch on ipsilateral side of body.

CARDIOVASCULAR

ADAMS-STOKES SYNDROME: Heart block, with slow or absent pulse, often accompanied by
convulsions.

BARLOW SYNDROME: Floppy Mitral Valve Syndrome; Massive Mitral Valve Prolapse ------> Late
apical systolic murmur, systolic click, or both.
EISENMENGER'S SYNDROME: Ventricular-Septal Defect ------> Pulmonary hypertension and
cyanosis.
FLOPPY-VALVE SYNDROME: Mitral Incompetence due to myxomatous degeneration of the
leaflets.
LERICHE'S SYNDROME: Occlusion of distal aorta ------>
o Hip, thigh, and calf fatigue.
o Impotence
BEHCET'S SYNDROME: Vasculitis ------> secondary symptoms:
o Oral and genital ulcers
o Uveitis
o Optic atrophy
SHOULDER-HAND SYNDROME: Pain in shoulder and swelling in hand, sometimes occurring after
Myocardial Infarction.
SICK SINUS SYNDROME: Chaotic atrial activity; continual changes in P-Waves. Bradycardia,
alternating with recurrent ectopic beats and runs of tachycardia.
SUPERIOR VENA CAVA SYNDROME: Caused by a tumor. Obstruction of SVC ------>
o Edema
o Engorgement of the vessels of face, neck, and arms.
o Nonproductive cough
o Dyspnea
TAKAYASU'S SYNDROME: Arteritis of the Aortic Arch, resulting in no pulse. Seen in young
women.
WOLF-PARKINSON WHITE SYNDROME: ECG pattern of Paroxysmal Tachycardia.
o Short PR interval
o Delta wave = early QRS complex.

IATROGENIC (or Secondary to Medical Treatment)

AFFERENT LOOP SYNDROME: Gastrojejunal loop obstruction, proximal to a gastrojejunostomy.

o Ingestion of food produces nausea, pain, and duodenal distension.
ASHERMAN'S SYNDROME: Adhesions within the endometrial cavity, causing amenorrhea and
infertility.
o Adhesions probably were caused by surgery.
ULYSSES SYNDROME: Ill effects from follow-up diagnostic tests following a false-positive
screening test.

NEOPLASTIC (Malignant or Benign)

CARCINOID SYNDROME: Carcinoid tumor producing Bradykinin + Serotonin ------> secondary

symptoms:

o
o
o
o

Cyanotic flushing
Diarrhea

Bronchial spasm
Edema, ascites.
CRONKHITE-CANADA SYNDROME: GI-Polyps with diffuse alopecia (hair-loss) and nail dystrophy.
o May see protein-losing enteropathy and malabsorption.
GARDNER'S SYNDROME: Multiple inherited tumors, hereditary dominant trait.
o Skull osteomas, Fibromas, Epidermoid cysts
o Colonic polyposis (APC gene) ------> predisposition to colonic adenocarcinoma.
LAMBERT-EATON SYNDROME: Progressive proximal muscle weakness secondary to a
carcinoma.
MEIGS' SYNDROME: Fibroma of ovary with ascites and hydrothorax
PANCOAST SYNDROME: Tumor near pulmonary apex ------>
o Neuritic pain of chest and arm
o Muscle atrophy of the arm
o Horner's Syndrome (impaired cervical sympathetics)
PEUTZ-JEGHERS SYNDROME: Polyposis (hamartomas) of small intestine
o Also see melanin pigmentation of buccal mucosa and skin around mouth and lips

CONGENITAL

CEREBELLAR SYNDROME: Congenital Cerebellar Ataxia

CERVICAL SYNDROME: Supernumerary C7 rib ------> Pressure on brachial plexus ------> pain
radiating over shoulder, arm, and forearm over C7 distribution.
DANDY-WALKER SYNDROME: Obstruction of Foramina of Magendie and Luschka in infants -----> Hydrocephalus.
DIGEORGE SYNDROME: Congenital absence of 3rd and 4th Branchial Arches (Thymus and
Parathyroid Glands) ------> secondary symptoms:
o No cell-mediated immunity ------> Frequent viral and fungal infections
o Characteristic facial deformities
DOWN SYNDROME: Trisomy 21. Mental retardation, characteristic facial features, Simeon
crease in hand.
FANCONI'S SYNDROME Type I: Bone-marrow hypoplasia ------> refractory anemia,
pancytopenia.
EHLERS-DANLOS SYNDROME: Congenital defect in collagen.
o Hyper-elasticity and friability of the skin.
o Hyperextensibility of the joints.
FETAL ALCOHOL SYNDROME: Fetal malformations, growth deficiencies, craniofacial anomalies,
limb defects.
GOODPASTURE'S SYNDROME: Autoantibodies against basement membranes ------>
Glomerulonephritis (kidney) and hemoptysis (lungs).
o Often, death by renal failure
KLINEFELTER'S SYNDROME: Trisomy XXY ------> testicular atrophy, increase in gonadotropins in
urine.
KLIPPEL-FEIL SYNDROME:
o Cervical vertebrate fused

o
o
o

Congenital short neck, limited neck rotation

Abnormalities of the brainstem and cerebellum
Low hairline.
LESCH-NYHAN SYNDROME: Deficiency of HGPRT (Hypoxanthine-Guanine Phosphoribosyltransferase ------>
o Hyperuricemia, uric acid kidney stones
o Choreoathetosis
o Mental retardation, autism, spastic cerebral palsy
o X-Linked recessive
MARFAN SYNDROME: Connective Tissue disorder ------>
o Arachnodactyly: Abnormally long digits and extremities
o Subluxation of lens
o Dissecting aortic aneurism
POSTRUBELLA SYNDROME: Infantile defects resulting from maternal Rubella infection during
first trimester.
o Microphthalmos, cataracts
o Deafness
o Mental retardation
o Patent ductus arteriosis, Pulmonary arterial stenosis
PRADER-WILLI SYNDROME: Short stature, mental retardation, polyphagia with marked obesity,
sexual infantilism.
RENDU-OSLER-WEBER SYNDROME: Hereditary hemorrhagic telangiectasia.
SUDDEN INFANT DEATH SYNDROME: Unexplained death in sleeping infants.
TURNER'S SYNDROME: XO monosomy.
o Dwarfism
o Webbed neck
o Valgus of elbow.
o Amenorrhea
WILSON SYNDROME: Congenital defect in Ceruloplasmin, leading to buildup of copper ------>
mental retardation, cirrhosis, hepatolenticular degeneration.

ENDOCRINE, REPRODUCTIVE

AMENNORRHEA-GALACTORRHEA SYNDROME: Non-physiologic lactation, resulting from

endocrinologic causes or from a pituitary disorder.
CONN'S SYNDROME: Primary Hyperaldosteronism ------> muscular weakness, hypertension,
hypokalemia, alkalosis.
CUSHING'S SYNDROME: Hypersecretion of cortisol ------> secondary symptoms and
characteristics:
o Fatness of face and trunk with wasting of extremities
o Buffalo hump
o Bone decalacification
o Corticoid diabetes

o Hypertension
PREMENSTRUAL SYNDROME: Abnormal sensation in breasts, abdominal pain, thirst, headache,
pelvic congestion, nervous irritability.
o Ocassionally nausea and vomiting.
SHEEHAN'S SYNDROME: Post-partum pituitary necrosis ------> hypopituitarism.
STEIN-LEVENTHAL SYNDROME: Polycystic ovary ------> infertility, amenorrhea, hirsutism. Seen in
obese women.
TESTICULAR FEMINIZATION SYNDROME: Insensitivity to Testosterone. Male
Psuedohermaphroditism
o Complete female external genatalia, incompletely developed vagina, rudimentary
uterus.

PULMONARY

KARTAGENER'S SYNDROME: Situs Inversus (lateral transposition of lungs) resulting from chronic
sinusitis and bronchiectasis.
HAMMAN-RICH SYNDROME: Interstitial fibrosis of the lung.
MIDDLE-LOBE SYNDROME: Chronic pneumonitis and atalectasis of middle lobe of right lung.
CHURG-STRAUSS SYNDROME: Allergic Granulomatous Angiitis: Asthma, fever, eosinophilia.

INFECTIOUS

FITZ-HUGH-CURTIS SYNDROME: Gonococcal Periphepatitis in woman, as a complication of

Gonorrhea.
GUILLAN-BARRE SYNDROME: Infectious Polyneuritis of unknown cause.
HUNT'S SYNDROME: Herpe's Zoster infection of Facial Nerve (CN VII) and Geniculate Ganglion -----> facial palsy.
o Zoster of ear
PARINAUD'S SYNDROME: Preauricular lymph node enlargement on the same side as
conjunctivitis.
REYE'S SYNDROME: Loss of consciousness and seizures in kids, after a viral infection treated by
aspirin.
REITER'S SYNDROME: Symptom cluster. Etiology is thought to be Chlamydial or post-chlamydial.
o Urethritis
o Iridocyclitis (Conjunctivitis)
o Arthritis
o Skin lesions like karatoderma blenorrhagicum
o Also can see fatty liver or liver necrosis.
SCALDED SKIN SYNDROME: S. Aureus toxic epidermal necrolysis.
STEVENS-JOHNSON SYNDROME: Erythema Multiforme complication.
o Large areas of skin slough, including mouth and anogenital membranes.
o Mucous membranes: stomatitis, urethritis, conjunctivitis.
o Headache, fever, malaise.

TOXIC SHOCK SYNDROME: Caused by superabsorbent tampons. Infection with Staph Aureus
and subsequent toxicity of exotoxin TSST ------> systemic anaphylaxis.
o Fever, vomiting, diarrhea
o Red rash followed by desquamation
WATERHOUSE-FRIEDRICHSON SYNDROME: Meningeococcal Meningitis ------> DIC, hemorrhagic
infarct of adrenal glands ------> fulminant adrenal failure.
o Vomiting, diarrhea.
o Shock
o Extensive purpura, cyanosis, circulatory collapse.

RENAL

KEMMELSTIEL-WILSON SYNDROME: Diabetic Glomerulosclerosis.

BARTTER'S SYNDROME: Juxtaglomerular Cell Hyperplasia ------> secondary symptoms:
o Hyperaldosteronism, Hypokalemic Alkalosis, elevated renin and angiotensin
o No hypertension.
o Compare to Conn's Syndrome
FANCONI'S SYNDROME Type II: Renal aminoaciduria, glycosuria, hypophosphaturia, cysteine
deposition, rickets.
THORN'S SYNDROME: Salt-losing nephritis.

NEUROLOGICAL

CARPAL-TUNNEL SYNDROME: Compression of Median Nerve through the Carpal Tunnel ------>
pain and parasthesia over distribution of Median N.
FROIN'S SYNDROME: Block in CSF flow ------> xanthochromia (yellow discoloration) of CSF.
ACUTE-BRAIN SYNDROME: Delirium, confusion, disorientation, developing suddenly in a person
that was previously psychologically normal.
GERSTMANN'S SYNDROME: Lesion between occipital area and angular gyrus ------> symptoms:
o Finger agnosia, Agraphia, acalculia
o Right-left disorientation
HORNER'S SYNDROME: Loss or lesion of cervical sympathetic ganglion ------>
o Ptosis, miosis, anhydrosis
o Enophthalmos (caved in eyes)
KORSAKOFF SYNDROME: Loss of short-term memory in chronic alcoholism, caused by
degeneration of mamillary bodies.
RILEY-DAY SYNDROME: Familial dysautonomia.

GASTROINTESTINAL

MALLORY-WEISS SYNDROME: Laceration of lower end of esophagus from vomiting ------>

hematemesis. Often seen in alcoholics.
MALABSORPTION SYNDROME: Impaired absorption of dietary substance ------> diarrhea,
weakness, weight loss, or symptoms from specific deficiencies.
BARRET SYNDROME: Chronic peptic ulcer of the lower esophagus, resulting in metaplasia of
esophageal columnar epithelium ------> squamous epithelium.
ZOLLINGER-ELLISOHN SYNDROME: Gastrin-secreting tumor in pancreas ------> Severe peptic
ulcers, gastric hyperacidity.
PLUMMER-VINSON SYNDROME: Esophageal Webs, leading to dysphagis and atrophy of papillae
of tongue.
o Also see hypochromic anemia, splenomegaly.

RETICULOENDOTHELIAL, HEMATOLOGIC

BANTI'S SYNDROME: Chronic Congestive Splenomegaly with anemia, caused by either Portal
Hypertension or Splenic Vein Thrombosis.
BUDD-CHIARI SYNDROME:
o ACUTE: Hepatic Vein Thrombosis ------> Massive ascites and dramatic death.
o CHRONIC: Gradual hepatomegaly, portal hypertension, nausea, vomiting, edema,
ulimately death.
DUBIN-JOHNSON SYNDROME: Defect in excretion of conjugated bilirubin ------> recurrent mild
jaundice. Buildup of direct builirubin in blood.
CHIDIAK-HIGASHI SYNDROME: Abnormalities in leukocytes with large inclusions.
CRUVEILHIER-BAUMGARTEN SYNDROME: Symptoms cluster:
o Liver cirrhosis
o Caput Medussae
o Venous hum and thrill
FELTY'S SYNDROME: Rheumatoid Arthritis with splenomegaly, leukopenia, anemia, and
thrombocytopenia.
LOFFLER'S SYNDROME: Eosinophilia with transient infiltrates in lungs.
PARINAUD'S SYNDROME: Preauricular lymph node enlargement on the same side as
conjunctivitis.

UNCATEGORIZED

YELLOW-NAIL SYNDROME: Stop growth of nails ------> increased convexity, thickening, and
yellowing of nails.
o Found in Lymphedema, bronchitis, chronic bronchiectasis.
COSTOCHONDRAL SYNDROME: Pain in chest with tenderness over one or more costochondral
junctions.
o Similar to Tietze's Syndrome but no specific inflammation.
TIETZE'S SYNDROME: Costochondritis. Swelling and tenderness of the costal cartilege.

MIKULICZ'S SYNDROME: Salivary and lacrimal enlargement as seen in several diseases:

o Sarcoidosis
o Tuberculosis
o Leukemia
MUNCHAUSEN SYNDROME: Malingering -- fabrication of a clinically convincing disease by an
itinerant malingerer.
PICKWICKIAN SYNDROME: Symptom cluster
o Obesity
o Hypoventilation
o Somnolence
o Erythrocytosis
RESTLESS LEGS SYNDROME: Need to stretch legs at night before going to sleep; twitch in legs
causing insomnia.
STRAIGHT BACK SYNDROME: Loss of normal kyphosis of thoracic spine ------>
o Straight spine
o Ejection murmur
o Widened cardiac silouhette on x-ray
SJGREN'S SYNDROME: Autoimmune complex
o Keratoconjuctivitis Sicca (dry eyes and mouth)
o Dryness of Mucous membranes
o Telangiectasias in face
o Parotid enlargement

SIGNATURE DRUG TOXICITIES

Agranulocytosis Clozapine
Chloramphenicol
Aplastic
Anemia
NSAIDs

Atropine-like
Side Effects
Cardiotoxicity

Cartilage
Damage in
children
Cinchonism
Cough
Diabetes
Insipidus
Disulfiram-like
effect

Benzene
Tricyclics
Doxorubicin
Daunorubicin
Fluoroquinolones (Ciprofloxacin & Norfloxacin)

Quinidine
ACE Inhibitors
Lithium
Metronidazole

Sulfonylureas (1st generation)

Extrapyramidal
Side Effects
Fanconi's
Syndrome
Fatal
Hepatotoxicity
(necrosis)

Gingical
Hyperplasia
Gray Baby
Syndrome
Gynecomastia

Antipsychotics (Thioridazine, Haloperidol,

Chlorpromazine)
Tetracycline
Valproic Acid
Halothane
Acetaminophen
Phenytoin
Chloramphenicol
Cimetidine
Azoles
Spironolactone

Hemolytic
Anemia in
G6PDdeficiency

Digitalis
Sulfonamides
Isoniazid
Aspirin
Ibuprofen

Hepatitis
Hot Flashes,
Flushing

Primaquine
Isoniazid
Niacin
Tamoxifen
Ca++ Channel Blockers

Induce CP450

Barbiturates
Phenytoin
Carbamazepine

Inhibit CP450

Interstitial
Nephritis

Rifampin
Cimetidine
Ketoconazole
Methicillin
NSAIDs (except Aspirin)
Furosemide

Monday
Disease
Orange Body
Fluids
Osteoporosis

Positive
Coombs' Test
Pulmonary
Fibrosis

Sulfonamides
Nitroglycerin Industrial exposure ----> tolerance
during week ----> loss of tolerance during weekend ---> headache, tach, dizziness upon re-exposure
Rifampin
Heparin
Corticosteroids
Methyldopa
Bleomycin
Amiodarone
Vancomycin

Red Man
Syndrome
MAOIs
Severe HTN
with Tyramine
Procainamide
SLE-like
Syndrome
Hydralazine
Antipsychotics (Thioridazine, Haloperidol,
Tardive
Chlorpromazine)
Dyskinesia
Aspirin
Tinnitus
Quinidine

MISCELLANEOUS

Fastest growing tumor Burkitt's

PE's are found in half of all autopsies
Courvoisier's Law: tumors that obstruct the common bile duct cause enlarged gallbladders, but
obstructing gallstones do not (too much scarring).
Only DNA virus to replicate in cytoplasm: Pox
Only RNA virus to replicate in nucleus: Influenza
Bacillus anthracis has the only protein capsule
Bordetella pertussis (Whooping Cough) elicits lymphocytosis rather than granulocytosis
Bronchioalveolar carcinomas grow without destroying the normal architecture of the lung
Cryptococcus neoformans often lacks a capsule and, when stained with GMS, looks just like
Pneumycistis carinii, except that Cryptococcus lacks the prominent nucleoli.