EPONYMS (Diseases with named after a person)
Addison's Disease
Addisonian Anemia
Aide�s tonic pupil
Albright's Syndrome
Alport's Syndrome
Alzheimer's
Argyll-Robertson Pupil
Arnold-Chiari Malformation
Barrett's esophagus
Bartter's Syndrome
Becker's Muscular Dystrophy
Bell's Palsy
Berger's Disease
Berry Aneurysm
Broca's Aphasia
Brown-Sequard
Bruton's Disease
Budd-Chiari
Buerger's Disease
Burkitt's Lymphoma
Caisson Disease
Chagas' Disease
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).
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
small pupil. Loss of light reflex. Mnemonic
herniation of the cerebellar tonsils
columnar metaplasia of the esophagus due to chronic reflux esophagitis
(precancerous)
hyperreninemia
more benign than Duchenne muscular dystrophy (pseudohypertrophy), appears in the
20s and 30s, no skeletal or heart abnormalities (deficiency in dystrophin protein)
(Facial palsy) 
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.
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 parasiteTrypanosoma

Conn's Syndrome
Creutzfeldt-Jakob
Crigler-Najjar Syndrome
Crohn's disease
Curling's Ulcer
Cushing's Syndrome
Cushing's Ulcer
de Quervain's Thyroiditis
DiGeorge's Syndrome
Down's Syndrome
Dressler's Syndrome
Dubin-Johnson Syndrome
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
Felty's Syndrome
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).
Unconjugated. Details
Inflammatory bowel disease:
Deep with lymphocytic infiltrate
Skip lesions hence cobble stone appearance
Most commonly found in the terminal ileum. Can affect any area from mouth to
anus. Details
Stress gastritis - associated with major trauma, burns, sepsis, 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
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
Gardner's Syndrome adenomatous polyps of colon plus osteomas & soft tissue tumors
Gaucher's Disease Lysosomal Storage Disease glucocerebrosidase deficiency

hepatosplenomegaly, femoral head & long bone erosion,anemia

Gilbert's Syndrome congenital hyperbilirubinemia 

defect in glocuronidation & hepatic uptake of bilirubin. Bilirubin increases by fasting

& phenobarbitone (unconjugated).

Appears in young adults, prognosis is excellent.

Glanzmann's Thrombasthenia defective glycoproteins on platelets
Goodpasture's autoimmune: ab's to glomerular & alveolar basement membranes
Grave's Disease autoimmune hyperthyroidism (TSI). Details
Guillain-Barre idiopathic polyneuritis (ascending muscle weakness & paralysis; usually self-
limiting). Details
Hamman-Rich Syndrome idiopathic pulmonary fibrosis
Hand-Schuller-Christian chronic progressive histiocytosis
Hashimoto's Thyroiditis autoimmune hypothyroidism. Details
Hashitoxicosis initial hyperthyroidism in Hashimoto's Thyroiditis that precedes
hypothyroidism. Details
Henoch-Schonlein purpura hypersensivity vasculitis

hemmorhagic urticaria (with fever, arthralgias, GI & renal involvement)

associated with upper respiratory infections

Hirschprung's Disease aganglionic megacolon
Horner's Syndrome ptosis, miosis, anhidrosis (lesion of cervical sympathetic nerves often 2� to a
Pancoast tumor)
Huntington's progressive degeneration of caudate nucleus, putamen & frontal cortex; AD
Jacksonian Seizures epileptic events originating in the primary motor cortex (area 4)
Job's Syndrome immune deficiency: neutrophils fail to respond to chemotactic stimuli
Kaposi Sarcoma malignant vascular tumor (HHV8 in homosexual men)
Kartagener's Syndrome Autosomal Recessive. Defect in dynein arms leading to immotile cilia this in turn
leads to sterility and is associated with situs inversus
Kawasaki Disease mucocutaneous lymph node syndrome (lips, oral mucosa)
Klinefelter's Syndrome 47, XXY
Kluver-Bucy bilateral lesions of amygdala (hypersexuality; oral behavior)
Krukenberg Tumor adenocarcinoma with signet-ring cells (typically originating from the stomach)
metastases to the ovaries
Laennec's Cirrhosis alcoholic cirrhosis
Lesch-Nyhan HGPRT deficiency

gout, retardation, self-mutilation

Letterer-Siwe acute disseminated Langerhans' cell histiocytosis
Levine sign Clenched fist over the sternum is a telling feature of cardiac pain.
Libman-Sacks endocarditis with small vegetations on valve leaflets

associated with SLE

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
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
Reiter's Syndrome
Reye's Syndrome
Riedel's Thyroiditis
Rotor Syndrome
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.
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
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
2� to aspirin ingestion in children following viral illness
idiopathic fibrous replacement of thyroid
congenital hyperbilirubinemia (conjugated)
 similar to Dubin-Johnson, but no discoloration of the liver
Schatzki's ring 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.
Sezary Syndrome leukemic form of cutaneous T-cell lymphoma (mycosis fungoides)
Shaver's Disease aluminum inhalation ----> lung fibrosis
Sheehan's Syndrome postpartum pituitary necrosis
Schilling's test used to diagnose pernicious anemia
Shy-Drager parkinsonism with autonomic dysfunction & orthostatic hypotension
Simmond's Disease pituitary cachexia
Sipple's Syndrome MEN type IIa (pheochromocytoma, thyroid medulla, parathyroid)
Sjogren's Syndrome triad: dry eyes, dry mouth, arthritis - risk of B-cell lymphoma
Spitz Nevus juvenile melanoma (always benign)
Stein-Leventhal polycystic ovary
Stevens-Johnson Syndrome erythema multiforme, fever, malaise, mucosal ulceration (often 2� to infection or
sulfa drugs)
Still's Disease juvenile rheumatoid arthritis (absence of rheumatoid factor)
Takayasu's arteritis aortic arch syndrome

loss of carotid, radial or ulnar pulses

Tay-Sachs gangliosidosis (hexosaminidase A deficiency ----> GM2ganglioside)
Tetralogy of Fallot VSD, overriding aorta, pulmonary artery stenosis, right ventricular hypertrophy
Tietze's syndrome self limiting costochondritis characterized by chest pain associated with tenderness.
Tourette's Syndrome involuntary actions, both motor and vocal
Turcot's Syndrome adenomatous polyps of colon plus CNS tumors
Turner's Syndrome 45, XO
Vincent's Infection "trench mouth" - acute necrotizing ulcerative gingivitis
von Gierke's Disease glycogen storage disease (G6Pase deficiency)
von Hippel-Lindau hemangioma (or hemangioblastoma)

adenomas of the viscera, especially renal cell carcinoma

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

Ipsilateral: ataxia, facial pain & temp; Contralateral: body pain & temp
Waterhouse-Friderichsen catastrophic adrenal insufficiency 2� to hemorrhagic necrosis (eg, DIC)

often 2� to meningiococcemia
Weber's Syndrome Paramedian Infarct of Midbrain

Ipsilateral: mydriasis; Contralateral: UMN paralysis (lower face & body)

Wegener's Granulomatosis necrotizing granulomatous vasculitis of paranasal sinuses, lungs, kidneys, etc.
Weil's Disease leptospirosis
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
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 Guillain-Barre (markedly increased protein in CSF with only modest increase in cell
count)
Antiplatelet Antibodies idiopathic thrombocytopenic purpura
Arachnodactyly Marfan's
Aschoff Bodies rheumatic fever
Auer Rods acute myelocytic leukemia
Autosplenectomy sickle cell anemia
Babinski UMN lesion
Basophilic Stippling of RBCs lead poisoning
Bence Jones Protein multiple myeloma free light chains (either kappa or lambda)

Waldenstrom's macroglobinemia
Birbeck Granules histiocytosis X (eosinophilic granuloma)
Blue Bloater Chronic Bronchitis
Boot-Shaped Heart Tetralogy of Fallot
Bouchard's Nodes osteoarthritis (PIP)
Boutonniere's Deformity rheumatoid arthritis
Brown Tumor hyperparathyroidism
Brushfield Spots Down's
Call-Exner Bodies granulosa cell tumor
Cardiomegaly with Apical Atrophy Chagas' Disease
Chancre 1� Syphilis
Chancroid Haemophilus ducreyi
Charcot Triad multiple sclerosis (nystagmus, intention tremor, scanning speech)
Charcot-Leyden Crystals bronchial asthma
Cheyne-Stokes Breathing cerebral lesion
Chocolate Cysts endometriosis
Chvostek's Sign Hypocalcemia facial spasm in tetany
Clue Cells Gardnerella vaginitis
Codman's Triangle osteosarcoma
Cold Agglutinins Mycoplasma pneumoniae

infectious mononucleosis
Condyloma Lata 2� Syphilis
Cotton Wool Spots HTN
Councilman Bodies dying hepatocytes
Crescents In Bowman's Capsule rapidly progressive (crescentic glomerulonephritis)
Currant-Jelly Sputum Klebsiella
Curschmann's Spirals bronchial asthma
Depigmentation Of Substantia Nigra Parkinson's
Donovan Bodies granuloma inguinale (STD)
Eburnation osteoarthritis (polished, ivory-like appearance of bone)
Ectopia Lentis Marfan's
Erythema Chronicum Migrans Lyme Disease
Fatty Liver Alcoholism and relatively normal with age and obesity
Ferruginous Bodies asbestosis
Ghon Focus / Complex Tuberculosis (1� & 2�, respectively)
Gower's Maneuver Duchenne's MD use of arms to stand
Heberden's Nodes Osteoarthritis (DIP)
Heinz Bodies G6PDH Deficiency
Hemorrhagic Urticaria Henoch-Schonlein
Heterophil Antibodies infectious mononucleosis (EBV)
Hirano Bodies Alzheimer's
Hypersegmented PMNs Megaloblastic anemia
Hypochromic Microcytic RBCs iron-deficiency anemia
Jarisch-Herxheimer Reaction Syphilis over-aggressive treatment of an asymptomatic pt. that causes symptoms 2�
to rapid lysis
Joint Mice osteoarthritis (fractured osteophytes)
Kaussmaul Breathing acidosis
Keratin Pearls SCCA
Keyser-Fleischer Ring Wilson's
Kimmelstiel-Wilson Nodules diabetic nephropathy
Koilocytes HPV
Koplik Spots measles
Lewy Bodies Parkinson's (eosinophilic inclusions in damaged substantia nigra cells)
Lines of Zahn arterial thrombus
Lisch Nodules neurofibromatosis (von Recklinhausen's disease)
Lumpy-Bumpy IF Glomeruli poststreptococcal glomerulonephritis
McBurney's Sign appendicitis (McBurney's Point is 2/3 of the way from the 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)

MGUS
Myxedema hypothyroidism
Negri Bodies rabies
Neuritic Plaques Alzheimer's
Neurofibrillary Tangles Alzheimer's
Non-pitting Edema
Notching of Ribs
Nutmeg Liver
Painless Jaundice
Pannus
Pautrier's Microabscesses
Philadelphia Chromosome
Pick Bodies
Pink Puffer
Podagra
Port-Wine Stain
Posterior Anterior Drawer Sign
Psammoma Bodies
Pseudohypertrophy
Punched-Out Bone Lesions
Rash on Palms & Soles
Red Morning Urine
Reed-Sternberg Cells
Reid Index Increased
Reinke Crystals
Rouleaux Formation
S3 Heart Sound
S4 Heart Sound
Schwartzman Reaction
Simian Crease
Smith Antigen
Soap Bubble on X-Ray
Spike & Dome Glomeruli
String Sign on X-ray
Myxedema
Anthrax Toxin
Coarctation of Aorta
CHF
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
Mesothelioma
Duchenne muscular dystrophy
multiple myeloma
2� Syphilis
RMSF
paroxysmal nocturnal hemoglobinuria
Hodgkin's Disease
chronic bronchitis
Leydig cell tumor
multiple myeloma RBC's stacked as poker chips
L�R Shunt (VSD, PDA)
Mitral Regurg
LV Failure
Pulmonary Stenosis
Pulmonary HTN
Neisseria meningitidis impressive rash with bugs
Down's
SLE (also anti-dsDNA)
giant cell tumor of bone
membranous glomerulonephritis
Crohn's bowel wall thickening
Target Cells Thalassemia
Tendinous Xanthomas Familial Hypercholesterolemia
Thyroidization of Kidney chronic pyelonephritis
Tophi gout
Tram-Track Glomeruli membranoproliferative glomerulonephritis
Trousseau's Sign visceral ca, classically pancreatic (migratory thrombophlebitis)

hypocalcemia (carpal spasm)

These are two entirely different disease processes and different signs, but they
unfortunately have the same name.
Virchow's Node supraclavicular node enlargement by metastatic carcinoma of the stomach
Warthin-Finkeldey Giant Cells Measles
WBC Casts pyelonephritis
Wire Loop Glomeruli lupus nephropathy, type IV
- AFP in amniotic fluid or mother's Spina Bifida
serum
Anencephaly
- Uric Acid Gout

Lesch Nyhan

Myeloproliferative Disorders

Diuretics (Loop & Thiazides)

FEV1/FVC COPD

HEART MURMURS

Murmur Description Indication

Cooing Murmur Musical murmur

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 Anemia

 blood turbulence.

Flow Murmur

Austin Flint Murmur Presystolic murmur similar to mitral stenosis, Aortic Insufficiency
heard at cardiac apex. Caused by regurgitation
from Aorta partially narrowing the mitral valve.

Diamond-Shaped Murmur Crescendo-Decrescendo murmur Aortic Stenosis

Pulmonic Stenosis

Early Diastolic Murmur Begins right after the second heart sound. Aortic Insufficiency

Ejection Murmur Diamond-shaped systolic murmur ending before Aortic Stenosis

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

Cardiopulmonary Murmur Related to movement of the heart, and Innocent

disappearing when the breath is held.

Still's Murmur Innocent musical murmur resembling a twanging Innocent

string

Late Systolic Murmur Diamond-shaped murmur late in systole. Often Mitral Valve Prolapse (MVP)
accompanied by mid or late systolic click.

Middiastolic Murmur Begins after the AV valves have opened in diastole. Mitral Stenosis

Presystolic Murmur Occurs during late diastole, caused by contraction Mitral Stenosis
of the atria.
Narrowing of the AV valves

Machinery Murmur Continuous rumbling murmur, heard throughout Patent Ductus Arteriosus
systole and diastole.

Extracardiac Murmur Heard over precordium, but originating from Pericardial Friction Rubs
structures other than the heart

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 Ventricular Septal Defect (VSD)
sternal border.

MOST COMMON
1� Tumor arising from bone in adults Multiple Myeloma
Adrenal Medullary Tumor � Adults Pheochromocytoma
Adrenal Medullary Tumor � Children Neuroblastoma
Bacterial Meningitis � adults Neisseria meningitidis
Bacterial Meningitis � elderly Strep pneumoniae
Bacterial Meningitis � newborns E. coli
Bacterial Meningitis � toddlers Hib
Bone Tumors Metasteses from Breast & Prostate
Brain Tumor � Child Medulloblastoma (cerebellum)
Brain Tumor �Adult Astrocytoma (including Glioblastoma Multiforme) then: mets,
meningioma, Schwannoma
Breast Carcinoma Invasive Duct Carcinoma
Breast Mass Fibrocystic Change (Carcinoma is the most common is post-
menopausal women)
Bug in Acute Endocarditis Staph aureus
Bug in debilitated, hospitalized pneumonia pt Klebsiella
Bug in Epiglottitis Hib
Bug in GI Tract Bacteroides (2nd � E. coli)
Bug in IV drug user bacteremia / pneumonia Staph aureus
Bug in PID N. Gonnorrhoeae
Bug in Subacute Endocarditis Strep Viridans
Cardiac 1� Tumor � Adults Myxoma "Ball Valve"
Cardiac 1� Tumor � Child Rhabdomyoma
Cardiac Tumor � Adults Metasteses
Cardiomyopathy Dilated (Congestive) Cardiomyopathy
Cause of 2� HTN Renal Disease
Cause of Addison's Autoimmune (2nd � infection)
Cause of Congenital Adrenal Hyperplasia 21-Hydroxylase Deficiency (then, 11-)
Cause of Cushings Exogenous Steroid Therapy (then, 1� - ACTH, Adrenal
Adenoma, Ectopic ACTH)
Cause of death in Alzheimer pts Pneumonia
Cause of death in Diabetics MI
Cause of Death in SLE pts. Lupus Nephropathy Type IV (Diffuse Proliferative)
Cause of Dementia Alzheimer's
nd
Cause of Dementia (2  most common) Multi-Infarct Dementia
Cause of food poisoning Staph aureus
Cause of mental retardation Down's
Cause of mental retardation (2nd most common) Fragile X
Cause of preventable blindness Chlamydia
Cause of Pulmonary HTN COPD
Cause of SIADH Small Cell Carcinoma of the Lung
Chromosomal disorder Down's
Congenital cardiac anomaly VSD (membranous > muscular)
Congenital early cyanosis Tetralogy of Fallot
Coronary Artery thrombosis LAD
Demyelinating Disease Multiple Sclerosis
Dietary Deficiency Iron
Disseminated opportunistic infection in AIDS CMV (Pneumocystis carinii is most common overall)
Esophageal cancer SCCA
Fatal genetic defect in Caucasians Cystic Fibrosis
Female Tumor Leimyoma
Form of Amyloidosis Immunologic (Bence Jones protein in multiple myeloma is
also called the Amyloid Light Chain)
Form of Tularemia Ulceroglandular
Gynecologic malignancy Endometrial Carcinoma
Heart Murmur Mitral Valve Prolapse
Heart Valve in bacterial endocarditis Mitral
Heart Valve in bacterial endocarditis in IV drug users Tricuspid
Heart Valve involved in Rheumatic Fever Mitral then Aortic
Hereditary Bleeding Disorder Von Willebrand's Disease
Liver 1� Tumor Hepatoma
Liver Disease Alcoholic Liver Disease
Location of Adult brain tumors Above Tentorium
Location of Childhood brain tumors Below Tentorium
Lysosomal Storage Disease Gaucher's
Motor Neuron Disease ALS
Neoplasm � Child Leukemia
Neoplasm � Child (2nd most common) Medulloblastoma of brain (cerebellum)
Nephrotic Syndrome Membranous Glomerulonephritis
Opportunistic infection in AIDS PCP
Ovarian Malignancy Serous Cystadenoma
Ovarian Tumor Hamartoma
Pancreatic Tumor Adeno (usually in the head)
Patient with ALL / CLL / AML / CML ALL - Child / CLL - Adult over 60 / AML - Adult over 60 /
CML - Adult 35-50
Patient with Goodpasture's Young male
Patient with Reiter's Male
Pituitary Tumor Prolactinoma (2nd � Somatotropic "Acidophilic" Adenoma)
Primary Hyperparathyroidism Adenomas (followed by: hyperplasia, then carcinoma)
Pt. With Hodgkin's Young Male (except Nodular Sclerosis type � Female)
Pt. With Minimal Change Disease Young Child
Secondary Hyperparathyroidism Hypocalcemia of Chronic Renal Failure
Sexually transmitted disease Chlamydia
Site of Diverticula Sigmoid Colon
Site of metastasis Regional Lymph Nodes
nd
Site of metastasis (2  most common) Liver
Sites of atherosclerosis Abdominal aorta > coronary > popliteal > carotid
Skin Cancer Basal Cell Carcinoma
Stomach cancer Adeno
Testicular Tumor Seminoma
Thyroid Cancer Papillary Carcinoma
Tracheoesophageal Fistula Lower esophagus joins trachea / upper esophagus � blind
pouch
Tumor of Infancy Hemangioma
Type of Hodkin's Mixed Cellularity (versus: lymphocytic predominance,
lymphocytic depletion, nodular sclerosis)
Type of Non-Hodgkin's Follicular, small cleaved
Vasculitis (of medium & small arteries) Temporal Arteritis
Viral Encephalitis HSV
Worm infection in US Pinworm (2nd � Ascaris)

TABLE of GENETIC DISORDERS

Disease Category Pathogenesis / Heredity Pathology, Cardinal Symptoms

Cystic Fibrosis Autosomal Recessive. CFTR Meconium ileus (caused by thick, mucoid

gene defect on Chrom 7 ------> No
Cl- transport and failure to hydrate
mucous secretions (no NaCl transport)
------> excessively viscous mucoid
exocrine secretions
meconium), respiratory
bronchiectasis,Pseudomonas pneumonia,
pancreatic insufficiency, hypertonic (high
Cl-concentration) sweat.

Fanconi Anemia Autosomal Recessivecongenital Normocytic anemia with neutropenia.

pancytopenia.
Short stature, microcephaly,
hypogenitalism, strabismus, anomalies of
the thumbs, radii, and kidneys, mental
retardation, and microphthalmia.

Hartnup's Disease Autosomal Recessive. Defect in GI Pellagra-like syndrome (diarrhea,

uptake of neutral amino acids ------> dementia, dermatitis), light-sensitive skin
malabsorption oftryptophan (niacin rash, temporary cerebellar ataxia.
precursor) ------> niacin
deficiency among other things.

Kartagener's Autosomal Recessive. Defect in dynein Recurrent sinopulmonary

Syndrome arms ------> lost motility of cilia 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 Autosomal Recessive.Pyruvate Neurologic defects.

Dehydrogenase Dehydrogenasedeficiency ------>
Deficiency buildup of lactate and pyruvate
------>lactic acidosis.
Treatment: Increase intake
of ketogenic nutrients (leucine, lysine)
------> increase formation of Acetyl-CoA
from other sources.

Xeroderma Autosomal Recessive. Defect in DNA Dry skin, melanomas, pre-malignant

Pigmentosum repair, inability to repair thymine lesions, other cancers. Ophthalmic and
dimers resulting from UV- neurologic abnormalities.
light exposure ------> excessive skin
 damage and skin cancer.

Familial Autosomal A group of inherited diseases associated Heterozygous: accelerated atherosclerosis.

Hypercholesterolemia Dominant with hypercholestrolemia. Homozygous: accelerated atherosclerosis,
Disorders MI by age 35, xanthomas.

Hereditary Autosomal Autosomal Dominant. Telangiectasias of skin and mucous

Hemorrhagic Dominant membranes.
Telangiectasia (Osler- Disorders
Weber-Rendu
Syndrome)

Hereditary Autosomal Autosomal Dominant. Band- Sequestration of spherocytes in spleen

Spherocytosis Dominant 3 deficiency in RBC membrane ------> ------> hemolytic anemia.
Disorders spherical shape to cells. Other RBC
structural enzyme deficiencies can cause
it, too.

Huntington's Disease Autosomal Autosomal Dominant, 100% Progressive dementia with onset in

Dominant penetrance. adulthood, choreiform movements,
Disorders athetosis.
Genetic defect on Chrom 4 ------>
atrophy of caudate nuclei, putamen,
frontal cortex.

Marfan's Syndrome Autosomal Autosomal Arachnodactyly, dissecting aortic

Dominant Dominant.Fibrillin deficiency ------> aneurysms, ectopia lentis (subluxation of
Disorders faulty scaffolding in connective tissue lens), mitral valve prolapse.
(elastin has no anchor).

Neurofibromatosis Autosomal Autosomal Dominant. NF1 gene defect Multiple neurofibromas (Caf� au Lait

(Von Recklinghausen Dominant (no GTPase protein) ------> spots) which may become
Disease) Disorders dysregulation of Ras tumor-suppressor malignant,Lisch nodules (pigmented
protein. hamartomas of the iris).

Increased risk for tumors:

pheochromocytoma, Wilms tumor,
Rhabdomyosarcoma, leukemias.

Tuberous Sclerosis Autosomal Autosomal Dominant. Tubers (glial nodules), seizures, mental

Dominant retardation. Associated with adenoma
Disorders sebaceum (facial lesion), myocardial
rhabdomyomas, renal angiomyolipomas.

Von Hippel-Lindau Autosomal Autosomal Dominant, short arm of (1) Hemangioblastomas of cerebellum,
Syndrome Dominant chromosome 3. Same genetic region is medulla, or retina, (2) adenomas, (3) cysts
Disorders associated with incidence ofrenal cell in visceral organs. High risk for renal cell
carcinoma. carcinoma.

Congenital Fructose Carbohydrate Autosomal Recessive.Aldolase Severe hypoglycemia.

Intolerance Metabolism B deficiency ------> buildup Treatment: Remove fructose from diet.
Defect of Fructose-1-Phosphate in tissues
------> inhibit glycogenolysis and
gluconeogenesis.

Galactosemia Carbohydrate Autosomal Recessive. Inability to Failure to thrive, infantile cataracts,

Metabolism convert galactose to glucose ------> mental retardation. Progressive hepatic
Defect accumulation of galactose in many failure, cirrhosis, death.
 tissues.
Galactokinase-deficiency: infantile
(1) Classic form: Galactose-1- cataracts are prominent.
phosphate
Uridyltransferasedeficiency. Treatment: in either case,remove
galactose from diet.
(2) Rarer
form:Galactokinase deficiency.

Angelman Syndrome Chromosomal Deletion of part of short arm Mental retardation, ataxic gait,
of chromosome 15, maternal copy. An seizures.Inappropriate laughter.
example of genomic imprinting.

Cri du Chat Chromosomal 5p-, deletion of the long arm of "Cry of the cat." Severe mental
Syndrome chromosome 5. retardation, microcephaly, cat-like cry.
Low birth-weight, round-face,
hypertelorism (wide-set eyes), low-set
ears, epicanthal folds.

Down Syndrome Chromosomal Trisomy 21, with risk increasing with Most common cause of mental
maternal age. Familial form (no age- retardation. Will see epicanthal
(Trisomy 21) associated risk) is folds, simian crease, brushfield spots in
translocation t(21,x) in a minority of eyes. Associated syndromes: congenital
cases. 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,
(Trisomy 18) flexion deformities of fingers. Death by 1
year old.

Patau's Syndrome Chromosomal Trisomy 13 Mental retardation, microphthalmia, cleft

lip and palate, polydactyly, rocker-
(Trisomy 13) bottom feet, congenital heart disease.
Similar to and more severe than Edward's
Syndrome. Death by 1 year old.

Prader-Willi Chromosomal Deletion of part of short arm Mental retardation, short stature,
Syndrome of chromosome 15, paternal copy. An hypotonia, obesity and huge appetite after
example of genomic imprinting. infancy. Small hands and feet,
hypogonadism.

Fragile-X Syndrome Chromosomal Progressively longertandem repeats on
the long arm of the X-chromosome. The
Sex longer the number of repeats, the worse
chromosome the syndrome. Tandem repeats tend to
accumulate through generations.
Second most common cause of mental
retardation next to Down Syndrome.
Macro-orchidism (enlarged testes) in
males.

Klinefelter's Chromosomal Non-disjunction of the sex chromosome Hypogonadism, tall stature, gynecomastia.
Syndrome (XXY) during Anaphase I of meiosis Mild mental retardation. Usually not
Sex ------> Trisomy (47,XXY) diagnosed until after puberty. One Barr
chromosome body seen on buccal smear.

Turner's Syndrome Chromosomal Non-disjunction of the sex chromosome Streak gonads, primary amenorrhea,
(XO) during Anaphase I of meiosis webbed neck, short stature, coarctation
Sex ------> Monosomy (45,X) of Aorta, infantile genitalia.No mental
 retardation. No Barr bodies visible on
chromosome buccal smear.

XXX Syndrome Chromosomal Trisomy (47,XXX) and other multiple Usually phenotypically normal. May see
X-chromosome abnormalities. menstrual abnormalities or mild mental
Sex retardation in some cases.
chromosome

Ehlers-Danlos Connective Various defects in collagen synthesis. Laxity of joints, hyperextensibility of

Syndrome Tissue skin, poor wound healing, aneurysms.
disease  Type-I: Autosomal dominant,
mildest form.  Type-I: Diaphragmatic hernia.
 Type-IV: autosomal Common, normal life-
dominant. Defect in reticular expectancy.
collagen (type-III)  Type-IV: Ecchymoses, arterial
 Type-VI: autosomal- rupture. Dangerousdue to
recessive. rupture aneurysms.
 Type-VII: Defect in collagen  Type-VI: Retinal detachment,
type I corneal rupture
 Type-IX: X-linked recessive

Osteogenesis Connective Defects in Collagen Type Iformation. Multiple fractures after birth, blue
Imperfecta tissue disease 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.

Cori's Disease Glycogen Autosomal Recessive.Debranching Stunted growth, hepatomegaly,

Storage enzymedeficiency (can only break down hypoglycemia.
(Glycogen Storage Disease linear chains of glycogen, not at branch
Disease Type III) points) ------> accumulate glycogen in
liver, heart, skeletal muscle.

McArdle's Disease Glycogen Autosomal Recessive.muscle Muscle cramps, muscle weakness, easy
Storage phosphorylasedeficiency (cannot utilize fatigability. Myoglobinuria with strenuous
(Glycogen Storage Disease glycogen in skeletal muscle) ------> exercise.
Disease Type V) accumulation of glycogen in skeletal
muscle.

Pompe's Disease Glycogen Autosomal Recessive.alpha-1,4- Cardiomegaly, hepatomegaly, and

Storage Glucosidasedeficiency (cannot break systemic findings, leading to early death.
(Glycogen Storage Disease down glycogen) ------> accumulate
Disease Type II) glycogen in liver, heart, skeletal muscle.

Von Gierke's Disease Glycogen Autosomal Recessive.Glucose-6- Severe fastinghypoglycemia,

Storage Phosphatasedeficiency (cannot break hepatomegaly from lots of glycogen in
(Glycogen Storage Disease down glycogen) ------> accumulate liver.
Disease Type I) glycogen in liver and kidney.

Hemophilia A (Factor Hemophilia X-Linked Recessive. Factor Hemorrhage, hematuria, hemarthroses.

VIII Deficiency) VIII deficiency Prolonged PTT.

Hemophilia B (Factor Hemophilia X-Linked Recessive. Factor Milder than Hemophilia A. Hemorrhage,

IX Deficiency) IX deficiency. hematuria, hemarthroses. Prolonged PTT.

Von Willebrand Hemophilia Autosomal dominant and recessive
Disease varieties. Von Willebrand
Factordeficiency ------> defect in initial
formation of platelet plugs, and shorter
half-life of Factor VIII in blood.
Hemorrhage, similar to hemophilia.
Type-I: Most mild. Type-II:
Intermediate. Type-III: most severe, with
recessive inheritance (complete absence).

Ataxia-Telangiectasia Immune Autosomal Recessive. Unknown. Cerebellar ataxia, telangiectasia (enlarged

deficiency Numerous chromosomal breaks and capillaries of face and skin),B and T-Cell
elevated AFP is found. Symptomatic by deficiencies, IgA deficiency.
Combined age 2 years.
Deficiency

Ch�diak-Higashi Immune Defect in polymerization of Recurrent pyogenic

Syndrome deficiency microtubules in neutrophils ------> infections, Staphylococcus,
failure in neutrophilmigration and Streptococcus.
Phagocyte phagocytosis. Also results in failure
Deficiency in lysosomal function in neutrophils.

Chronic Immune X-Linked (usually) NADPH Failure of phagocytes leads to

Granulomatous deficiency Oxidase deficiency ------> no formation susceptibility to infections,
Disease of peroxides and superoxides ------> no especially Staph
Phagocyte oxidative burst in phagocytes. Aureus and Aspergillus spp. B and T cells
Deficiency usually remain normal.

Chronic Immune T-Cell deficiency specific toCandida. Selective recurrent Candidainfections.

Mucocutaneous deficiency Treat with anti-fungal drugs.
Candidiasis
T-Cell
Deficiency

Job's Syndrome Immune A failure to producegamma- High histamine levels, eosinophilia.

deficiency Interferon by T-Helper cells, leading to Recurrent cold(non-inflammatory)
an increase in TH2 cells (no negative Staphylococcal abscesses(resulting from
Phagocyte feedback) ------> excessively high levels high histamine), eczema.
Deficiency ofIgE.

Selective IgA Immune IgA deficiency may be due to a failure The most common congenital immune
Deficiency deficiency of heavy-chain gene switching. deficiency.  There also exists selective
IgM and IgG deficiencies, but they are
B-Cell less common.
Deficiency

Severe Combined Immune Autosomal Recessive.Adenosine Severe deficiency in both humoral and
Immunodeficiency deficiency Deaminasedeficiency ------> cellular immunity, due to impaired DNA
(SCID) accumulation of dATP ------> inhibit synthesis. Bone marrow transplant may be
Combined ribonucleotide reductase ------> decrease helpful in treatment.
Deficiency in DNA precursors

Thymic Aplasia Immune Failure of development of the 3rd and T-Cell deficiency from no

(DiGeorge Syndrome) deficiency 4thPharyngeal Pouches ------> agenesis thymus. Hypocalcemic tetany from
of the thymus and parathyroid glands. primary parathyroid deficiency.
T-Cell
Deficiency
Wiskott-Aldrich Immune Inability to mount initial IgMresponse to In infancy, recurrent pyogenic infections,
Syndrome deficiency the capsular polysaccharides of eczema, thrombocytopenia, excessive
pyogenic bacteria. bleeding. IgG levels remain normal.
Combined
Deficiency

X-Linked Immune X-Linked. Mutation in gene coding Recurrent pyogenic infections after 6
Agammaglobulinemia deficiency for tyrosine kinasecauses failure of Pre- months (when maternal antibodies wear
(Bruton's Disease) B cells to differentiate into B-Cells. off). Can treat with polyspecific gamma
B-Cell globulin preparations.
Deficiency

Fabry's Disease Lysosomal X-Linked Recessive. alpha- Angiokeratomas (skin lesions) over

Storage Galactosidase A deficiency ------> lower trunk, fever, severe burning pain in
Disease buildup of ceramide trihexoside in extremities, cardiovascular and
body tissues. cerebrovascular involvement.

Gaucher's Disease Lysosomal Autosomal  Type-I: Adult form. 80% of

Storage Recessive.Glucocerebrosidasedeficienc cases, retain partial activity.
Disease y ------> accumulation of Hepatosplenomegaly, erosion of
glucocerebrosides (gangliosides, femoral head, mild anemia.
sphingolipids) in lysosomes throughout Normal lifespan with treatment.
the body.  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.

Niemann-Pick Lysosomal Autosomal Sphingomyelin-containingfoamy

Lipidosis Storage Recessive.Sphingomyelinasedeficiency histiocytes in reticuloendo-thelial system
Disease ------> accumulation of sphingomyelin and spleen. Hepatosplenomegaly,anemia,
in phagocytes. fever, sometimes CNS deterioration.
Death by age 3.

Hunter's Syndrome Lysosomal X-Linked Recessive. L-iduronosulfate Similar to but less severe than Hurler
Storage sulfatasedeficiency ------> buildup Syndrome. Hepatosplenomegaly,
Disease ofmucopolysaccharides(heparan sulfate micrognathia, retinal degeneration, joint
and dermatan sulfate) stiffness, mild retardation, cardiac lesions.

Hurler's Syndrome Lysosomal Autosomal Recessive.alpha-L- Gargoyle-like facies, progressive mental

Storage iduronidasedeficiency ------> deterioration, stubby fingers, death by age
Disease accumulation 10. Similar to Hunter's Syndrome.
ofmucopolysaccharides(heparan
sulfate, dermatan sulfate) in heart, brain,
liver, other organs.

Tay-Sachs Disease Lysosomal Autosomal Recessive.Hexosaminidase CNS degeneration, retardation, cherry

Storage Adeficiency ------> accumulation of red-spot of macula, blindness
Disease GM2ganglioside in neurons. (amaurosis). Death before age 4.

Albinism Nitrogen Autosomal Depigmentation, pink eyes, increased risk

Metabolism Recessive.Tyrosinase deficiency ------> of skin cancer.
Defect inability to synthesize melanin from
tyrosine. Can result from a lack of
 migration of neural crest cells.

Alkaptonuria Nitrogen Autosomal Recessive.Homogentisic Urine turns dark and black on

Metabolism Oxidasedeficiency (inability to standing, ochronosis(dark pigmentation
Defect metabolize Phe and Tyr) ------> buildup of fibrous and cartilage tissues),
and urinary excretion of homogentisic ochronotic arthritis, cardiac valve
acid. involvement. Disease is generally benign.

Homocystinuria Nitrogen Autosomal Recessive.Cystathionine Mental retardation, ectopia lentis, sparse

Metabolism synthasedefect (either deficiency, or lost
Defect affinity for pyridoxine, Vit. B6) ------>
buildup of homocystine and deficiency
of cysteine.
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 Nitrogen X-Linked Recessive.Hypoxanthine- Hyperuricemia (gout), mental

Syndrome Metabolism Guanine Phosphoribosyltransferase retardation, self-mutilation (autistic
Defect (HGPRT) deficiency ------> no salvage behavior), choreoathetosis, spasticity.
pathway for purine re-synthesis ------>
buildup of purine metabolites

Maple Syrup Urine Nitrogen Autosomal Recessive. Deficiency Severe CNS defects, mental retardation,
Disease Metabolism of branched chain keto-acid death. Person smells like maple syrup or
Defect decarboxylase ------> no degradation of burnt sugar. Treatment:remove the amino
branched-chain amino acids ------> acids from diet.
buildup of isoleucine, valine, leucine.

Phenylketonuria Nitrogen Autosomal Recessive.Phenylalanine Symptoms result from accumulation of

(PKU) Metabolism hydroxylase deficiency (cannot break
Defect down Phe nor make Tyr) ------> buildup
of phenylalanine, phenyl ketones
(phenylacetate, phenyl lactate,
phenylpyruvate) in body tissues and
CNS.
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 RBC Disease X-Linked Recessive.Glucose-6- Susceptibility to oxidative damage to

Dehydrogenase Phosphate Dehydrogenase
(G6PD) Deficiency (G6PD)deficiency ------> no hexose
monophosphate shunt ------> deficiency
in NADPH ------> inability to
maintainglutathione in reduced form, in
RBC's
RBC's, leading to hemolytic anemia. Can
be elicited by drugs (primaquine,
sulfonamides, aspirin), fava beans
(favism). More prevalent in blacks.

Glycolytic enzyme RBC Disease Autosomal Recessive. Defect in Hemolytic anemia results from any
deficiencies hexokinase, glucose-phosphate defect in the glycolysis pathway, as RBC's
isomerase, aldolase, triose-phosphate depend on glycolysis for energy.
isomerase, phosphate-glycerate kinase,
or enolase. Any enzyme in glycolysis
pathway.

Autosomal Recessive Renal Autosomal Recessive. Numerous, diffuse bilateral cysts formed
Polycystic Kidney in the collecting ducts. Associated with
Disease (ARPKD) hepatic fibrosis.
Bartter's Syndrome Renal Juxtaglomerular Cell Hyperplasia, Elevated renin and aldosterone,
leading toprimary hyper-reninemia. hypokalemic alkalosis. No hypertension.

Fanconi's Syndrome Renal Autosomal Recessive. Deficient (1) Cystine deposition throughout body,
Type I resorption in proximal tubules. cystinuria. (2) Defective tubular
resorption leads to amino-aciduria,
(Child-onset polyuria, glycosuria, chronic
cystinosis) acidosis;Hypophosphatemia andVitamin
-D-resistant Rickets.

Fanconi's Syndrome Renal Autosomal Recessive. Defective Similar to Fanconi Syndrome Type I, but
II resorption in proximal tubules. without the cystinosis. Adult
onsetosteomalacia, amino-aciduria,
(Adult-onset) polyuria, glycosuria.

Autosomal Dominant Renal Autosomal Dominant. Numerous, disparate, heterogenous renal

Polycystic Kidney cysts occurring bilaterally. Onset in adult
Disease (ADPKD) Autosomal life. Associated with liver cysts.
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 Cyanotic flushing
o Diarrhea
o Bronchial spasm
o 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 Congenital short neck, limited neck rotation
o Abnormalities of the brainstem and cerebellum
o Low hairline.
 LESCH-NYHAN SYNDROME: Deficiency of HGPRT (Hypoxanthine-Guanine Phospho-
ribosyltransferase ------>
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.
 GUILLAIN-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.
 BARRETT SYNDROME: Chronic peptic ulcer of the lower esophagus, resulting in metaplasia
of esophageal columnar epithelium ------> squamous epithelium.
 ZOLLINGER-ELLISON 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
 SJ?REN'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
Aplastic Anemia Chloramphenicol

NSAIDs

Benzene
Atropine-like Tricyclics
Side Effects
Cardiotoxicity Doxorubicin

Daunorubicin
Cartilage Fluoroquinolones (Ciprofloxacin & Norfloxacin)
Damage in
children
Cinchonism Quinidine
Cough ACE Inhibitors
Diabetes Lithium
Insipidus
Disulfiram-like Metronidazole
effect
Sulfonylureas (1st generation)
Extrapyramidal Antipsychotics (Thioridazine, Haloperidol, Chlorpromazine)
Side Effects
Fanconi's Tetracycline
Syndrome
Fatal Valproic Acid
Hepatotoxicity
(necrosis) Halothane

Acetaminophen
Gingical Phenytoin
Hyperplasia
Gray Baby Chloramphenicol
Syndrome
Gynecomastia Cimetidine

Azoles

Spironolactone

Digitalis
Hemolytic Sulfonamides
Anemia in G6PD-
deficiency Isoniazid

Aspirin

Ibuprofen

Primaquine
Hepatitis Isoniazid
Hot Flashes, Niacin
Flushing
Tamoxifen

Ca++ Channel Blockers
Induce CP450 Barbiturates

Phenytoin

Carbamazepine

Rifampin
Inhibit CP450 Cimetidine

Ketoconazole
Interstitial Methicillin
Nephritis
NSAIDs (except Aspirin)

Furosemide

Sulfonamides
Monday Disease Nitroglycerin Industrial exposure ----> tolerance during week ----> loss of
tolerance during weekend ----> headache, tach, dizziness upon re-exposure
 Orange Body Rifampin
Fluids
Osteoporosis Heparin

Corticosteroids
Positive Coombs' Methyldopa
Test
Pulmonary Bleomycin
Fibrosis
Amiodarone
Red Man Vancomycin
Syndrome
Severe HTN with MAOIs
Tyramine
SLE-like Procainamide
Syndrome
Hydralazine
Tardive Antipsychotics (Thioridazine, Haloperidol, Chlorpromazine)
Dyskinesia
Tinnitus Aspirin

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
likePneumycistis carinii, except that Cryptococcus lacks the prominent nucleoli.