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*USMLE 2 Diseases


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primary adrenocortical deficiency; decreased cortisol, decreased aldosterone
Addison’s Disease
pernicious anemia
Addisonian Anemia
polyostotic fibrous dysplasia, precocious puberty, café au lait spots, short stature, young girls
Albright’s Syndrome
hereditary nephritis with nerve deafness
Alport’s Syndrome
progressive dementia
loss of light reflex constriction (contralateral or bilateral)
Argyll-Robertson Pupil
cerebellar tonsil herniation
Arnold-Chiari Malformation
columnar metaplasia of lower esophagus (­ risk of adenocarcinoma)
Bartter’s Syndrome
similar to Duchenne, but less severe (deficiency in dystrophin protein)
Becker’s Muscular Dystrophy
CNVII palsy (entire face; recall that UMN lesion only affects lower face)
Bell’s Palsy
IgA nephropathy
Berger’s Disease
defect in platelet adhesion (abnormally large platelets & lack of platelet-surface glycoprotein: GP-Ib)
Bernard-Soulier Disease
circle of Willis (subarachnoid bleed)
Berry Aneurysm
carcinoma in situ on shaft of penis that is gray-white
(­risk of visceral ca)
Bowen’s Disease
complete rupture of the esophagus
Boerhaave's syndrome
somatization disorder - multiple physical complaints w/o pathology
Briquet’s Syndrome
Motor Aphasia intact comprehension
Broca’s Aphasia
hemisection of cord (contralateral loss of pain & temp / ipsilateral loss of fine touch, UMN)
recurrent bacterial infections after 6 months of age, low levels of all classes of immunoglobulins;
X-linked recessive
Bruton’s Disease
post-hepatic venous thrombosis w/ centrilobar congestion & necrosis, leading to ascites & congestive liver disease
acute inflammation of small, medium arteries -->
painful ischemia -->
Buerger’s Disease
small noncleaved cell lymphoma caused by EBV.
What translocation/oncogene?
Burkitt’s Lymphoma

t(8;14) / c-myc
Nitric gas emboli
Caisson Disease
Trypansoma infection sleeping disease, cardiomegaly with apical atrophy, achlasia
Chagas’ Disease
Phagocyte Deficiency: neutropenia, albinism, cranial & peripheral neuropathy w repeated infections
Chediak-Higashi Disease
primary hyperaldosteronism
Conn’s Syndrome
glycogen storage disease (debranching enzyme deficiency) that affects the heart
Cori’s Disease
prion infection -> cerebellar & cerebral degeneration
congenital hyperbilirubinemia (unconjugated).
What is deficiency?
Crigler-Najjar Syndrome

(glucuronyl transferase)
IBD; ileocecum, transmural, skip lesions, lymphocytic infiltrate, granulomas
acute gastric ulcer associated with severe burns
Curling’s Ulcer
2° to ­ ACTH from pituitary
(basophilic adenoma)
acute gastric ulcer associated with CNS trauma
Cushing’s Ulcer
self-limiting focal destruction (subacute thyroiditis)
de Quervain’s Thyroiditis
thymic hypoplasia w/ T-cell deficiency; hypoparathyroidism
DiGeorge’s Syndrome
trisomy 21 or translocation
Down’s Syndrome
Post-MI Fibrinous Pericarditis autoimmune
Dressler’s Syndrome
congenital hyperbilirubinemia (conjugated) w/ brown/black discoloration of the liver due to defective liver excretion
Dubin-Johnson Syndrome
deficiency of dystrophin protein -> MD
Genetic class?
Duchenne Muscular Dystrophy

(X-linked recessive)
rocker-bottom feet, low ears, heart disease.
What gene defect?
Edwards’ Syndrome

(Trisomy 18)
defective collagen
late cyanotic shunt (R->L) pulmonary HTN & RVH secondary to long-standing VSD, ASD, or PDA
Eisenmenger’s Complex
trauma to superior trunk of brachial plexus (Waiter’s Tip)
Erb-Duchenne Palsy
undifferentiated round cell tumor of bone
Ewing Sarcoma
Circulating T3 decrease while rT3 increases . Type I: 5' deiodinase is inhibited by metabolic shock. Type II: 5' monodeiodinase still functions so the hypothalamic feeedback mechanism doesn't see the problem.
Euthyroid sick syndrome
carcinoma in situ on glans penis - red, soft lesion
Eyrthroplasia of Queyrat
impaired proximal tubular reabsorption 2° to lead poisoning or Tetracycline (glycosuria, hyperphosphaturia, aminoaciduria, systemic acidosis)
Fanconi’s Syndrome
rheumatoid arthritis, neutropenia, splenomegaly
Felty’s Syndrome
adenomatous polyps of colon plus osteomas & soft tissue tumors
Gardner’s Syndrome
Lysosomal storage disease: hepatosplenomegaly, femoral head & long bone erosion, anemia.
What enzyme is deficient?
Gaucher’s Disease

benign congenital hyperbilirubinemia (unconjugated);
Asymptomatic mostly, yet onset w/ stress
Gilbert’s Syndrome
defective glycoproteins on platelets leading to a defect in agGregation:
low GP IIb-IIIa
Glanzmann's Thrombasthenia
autoimmune: ab’s to glomerular & alveolar basement membranes
autoimmune hyperthyroidism (TSI)
Grave’s Disease
idiopathic polyneuritis (ascending muscle weakness & paralysis; usually self-limiting)
idiopathic pulmonary fibrosis
Hamman-Rich Syndrome
chronic progressive histiocytosis
autoimmune hypothyroidism; #1 cause of hypothyroidism
Hashimoto’s Thyroiditis
childhood hypersensivity systemic vasculitis; skin rash, arthralgia, intestinal hemorrhage, upper respiratory infections
Henoch-Schonlein purpura
aganglionic megacolon
Hirschprung’s Disease
ptosis, miosis, anhidrosis (lesion of cervical sympathetic nerves often 2° to a Pancoast tumor)
Horner’s Syndrome
progressive degeneration of caudate nucleus, putamen & frontal cortex; AD
epileptic events originating in the primary motor cortex (area 4)
Jacksonian Seizures
immune deficiency: neutrophils fail to respond to chemotactic stimuli
Job’s Syndrome
malignant vascular tumor (HHV8 in homosexual men)
Kaposi Sarcoma
immotile cilia secondary to defective dynein arms infection, situs inversus, sterility
Kartagener’s Syndrome
childhood mucocutaneous lymph node syndrome (lips, oral mucosa), fever and congested conjunctiva
What can it lead to?
Kawasaki Disease

(Acute necrotizing vasculitis)

leads to: coronary aneurysms
47, XXY
Klinefelter’s Syndrome
bilateral lesions of amygdala (hypersexuality; oral behavior)
adenocarcinoma with signet-ring cells (typically originating from the stomach) metastases to the ovaries
Krukenberg Tumor
gout, retardation, self-mutilation.
What is the deficiency?

(HGPRT deficiency)
acute disseminated Langerhans’ cell histiocytosis
endocarditis with small vegetations on both sides of the valve leaflets (do not embolize) leading to mitral stenosis; associated w/ SLE
Amyotrophic Lateral Sclerosis degeneration of upper & lower motor neurons
Lou Gehrig’s
autosomal dominant familial colorectal CA
Lynch syndrome
bleeding from esophagogastric lacerations 2° to wretching (alcoholics)
Mallory-Weis Syndrome
connective tissue defect
glycogen storage disease (muscle phosphorylase deficiency)
McArdle’s Disease
rule of 2’s: 2 inches long, 2 feet from the ileocecum, in 2% of the population
Meckel’s Diverticulum
Triad: ovarian fibroma, ascites, hydrothorax
Meig’s Syndrome
medullary CA of thyroid, primary hyperparathyroidism, pheochromacytoma

(Sipple's syndrome)

autosomal dominant
ret gene
medullary CA of thyroid, mucosal neuroma of lips, pheochromacytoma
giant hypertrophic gastritis
(thickened mucosa - rugae; plasma protein loss)
Menetrier’s Disease
chocolate brown blood cyanosis unresponsive to oxygen therapy.
What is given to patient?

(methylene blue)
calcification of the media (usually radial & ulnar aa.)
Monckeberg’s Arteriosclerosis
factitious disorder (consciously creates symptoms, but doesn’t know why)
Munchausen Syndrome
1° Adrenal Cushings -->
surgical removal of adrenals -->
loss of negative feedback to pituitary -->
Pituitary Adenoma
Nelson’s Syndrome
Lysosomal Storage Disease: "foamy histiocytes"
What is the enzyme deficiency?

(sphingomyelinase deficiency)
Hereditary Hemorrhagic Telangiectasia
Osler-Weber-Rendu Syndrome
abnormal bone architecture (thickened, numerous fractures -> pain)
Paget’s Disease
bronchogenic tumor with superior sulcus involvement -> Horner’s Syndrome
Pancoast Tumor
dopamine depletion in nigrostriatal tracts
melanin pigmentation of lips, mouth, hand, genitalia plus hamartomatous polyps of small intestine
Peutz-Jegher’s Syndrome
subcutaneous fibrosis of dorsum of penis
Peyronie’s Disease
progressive dementia similar to Alzheimer’s
Pick’s Disease
hyperthyroidism, nodular goiter, absence of eye signs
Plummer’s Syndrome
(Plummer’s = Grave’s - eye signs)
esophageal webs & iron-deficiency anemia, -> SCCA of esophagus
glycogen storage disease -> cardiomegaly
Pompe’s Disease
tuberculous osteomyelitis of the vertebrae
Pott’s Disease
renal agenesis -> oligohydramnios -> hypoplastic lungs, defects in extremities
Potter’s Complex
Disease: recurrent vasospasm in extremities
urethritis, conjunctivitis, arthritis non-infectious (but often follows infections), HLA-B27, polyarticular
Reiter’s Syndrome
microvesicular fatty liver change & encephalopathy secondary to aspirin ingestion in children following a virus
Reye’s Syndrome
idiopathic fibrous replacement of thyroid
Riedel’s Thyroiditis
congenital hyperbilirubinemia (conjugated) without discoloration of the liver
Rotor Syndrome
leukemic form of cutaneous T-cell lymphoma (mycosis fungoides)
Sezary Syndrome
aluminum inhalation -> lung fibrosis
Shaver’s Disease
postpartum pituitary necrosis
Sheehan’s Syndrome
parkinsonism with autonomic dysfunction & orthostatic hypotension
pituitary cachexia
Simmond’s Disease
pheochromocytoma, medullary CA of thyroid, mucosal neuromas
MEN III (or IIb)

ret gene / autosomal dominant
triad: dry eyes, dry mouth, arthritis (risk of B-cell lymphoma)
Sjogren’s Syndrome
Defect of spectrin resulting in spherical RBCs, resulting in hemolytic anemias
juvenile melanoma (always benign)
Spitz Nevus
polycystic ovary
erythema multiforme, fever, malaise, mucosal ulceration (often secondary to infection or sulfa drugs)
Stevens-Johnson Syndrome
juvenile rheumatoid arthritis (absence of rheumatoid factor)
Still’s Disease
aortic arch syndrome causing a extremely weak carotid, radial or ulnar pulses, myalgias, skin lesions, ocular disturbances;
Asian females
Takayasu’s arteritis
gangliosidosis (hexosaminidase A deficiency -> GM2 ganglioside)
VSD, overriding aorta, pulmonary artery stenosis, right ventricular hypertrophy
Tetralogy of Fallot
involuntary actions, both motor and vocal
Tourette’s Syndrome
adenomatous polyps of colon + CNS tumors
Turcot’s Syndrome
45, XO
Turner’s Syndrome
“trench mouth” - acute necrotizing ulcerative gingivitis
Vincent’s Infection
glycogen storage disease (G6Pase deficiency)
von Gierke’s Disease
hemangioma (or hemangioblastoma) adenomas of the viscera, especially renal cell carcinoma
von Hippel-Lindau
neurofibromatosis & café au lait spots
von Recklinghausen’s
osteitis fibrosa cystica (“brown tumor”) 2° to hyperparathyroidism
von Recklinghausen’s Disease of Bone
defect in platelet adhesion 2° to deficiency in vWF
von Willebrand’s Disease
proliferation of IgM,
"flame cells" (eosinophilic plasma cells),
Waldenstrom’s macroglobinemia
Ipsilateral: ataxia, facial pain & temp loss
Contralateral: body pain & temp loss
Where is brain?
What vessel?
Wallenberg’s Syndrome -
lateral medulla

catastrophic adrenal insufficiency w/ hemorrhagic necrosis (eg, DIC).
secondary to meningiococcemia
Ipsilateral: mydriasis
Contralateral: UMN paralysis
(lower face & body)
Weber’s Syndrome
necrotizing granulomatous vasculitis of paranasal sinuses, lungs, kidneys, etc.
Wegener’s Granulomatosis
Weil’s Disease
presents w/ kidney stones & stomach ulcers...
Pancreas, Pituitary, Parathyroid tumors

MEN I (Wermer’s Syndrome)

Auto donminant
Sensory Aphasia impaired comprehension
Wernicke’s Aphasia
thiamine deficiency in alcoholics; bilateral mamillary bodies (confusion, ataxia, ophthalmoplegia)
Wernicke-Korsakoff Syndrome
malabsorption syndrome (with bacteria-laden macrophages) & polyarthritis
Whipple’s Disease
hepatolenticular degeneration (copper accumulation & decrease in ceruloplasmin)
Wilson’s Disease
combined B-cell & T-cell deficiency, low IgM, high IgA
recurrent Infection, thrombocytopenic Purpura & Eczema)
What inheritance?
Wiskott-Aldrich Syndrome


X-linked recessive
high iodine level (-)’s thyroid hormone synthesis
Wolff-Chaikoff Effect
esophageal; cricopharyngeal muscles above UES
Zenker’s Diverticulum
gastrin-secreting tumor of pancreas (or intestine) -> ­ acid -> intractable ulcers

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