*USMLE 2 Diseases
Terms
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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
- Alzheimer’s
- 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)
- Barrett’s
- hyperreninemia
- 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)
- Brown-Sequard
-
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
- Budd-Chiari
-
acute inflammation of small, medium arteries -->
painful ischemia -->
gangrene - 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
- Creutzfeldt-Jakob
-
congenital hyperbilirubinemia (unconjugated).
What is deficiency? -
Crigler-Najjar Syndrome
(glucuronyl transferase) - IBD; ileocecum, transmural, skip lesions, lymphocytic infiltrate, granulomas
- Crohn’s
- acute gastric ulcer associated with severe burns
- Curling’s Ulcer
-
hypercorticism
2° to ACTH from pituitary
(basophilic adenoma) - Cushing’s
- 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
- Ehler’s-Danlos
- 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
(glucocerebrosidase) -
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
- Goodpasture’s
- autoimmune hyperthyroidism (TSI)
- Grave’s Disease
- idiopathic polyneuritis (ascending muscle weakness & paralysis; usually self-limiting)
- Guillain-Barre
- idiopathic pulmonary fibrosis
- Hamman-Rich Syndrome
- chronic progressive histiocytosis
- Hand-Schuller-Christian
- 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
- Huntington’s
- 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)
- Kluver-Bucy
- adenocarcinoma with signet-ring cells (typically originating from the stomach) metastases to the ovaries
- Krukenberg Tumor
-
gout, retardation, self-mutilation.
What is the deficiency? -
Lesch-Nyhan
(HGPRT deficiency) - acute disseminated Langerhans’ cell histiocytosis
- Letterer-Siwe
- endocarditis with small vegetations on both sides of the valve leaflets (do not embolize) leading to mitral stenosis; associated w/ SLE
-
Libman-Sacks
endocarditis - 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
- Marfan’s
- 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
Inheritance?
Gene? -
MEN IIa
(Sipple's syndrome)
autosomal dominant
ret gene - medullary CA of thyroid, mucosal neuroma of lips, pheochromacytoma
- MEN IIb
-
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? -
Methemoglobinemia
(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? -
Niemann-Pick
(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
- Parkinson’s
- 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
- Plummer-Vinson
- 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
- Raynaud’s
- 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
- Shy-Drager
- pituitary cachexia
- Simmond’s Disease
-
pheochromocytoma, medullary CA of thyroid, mucosal neuromas
Gene? -
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
- Spherocytosis
- juvenile melanoma (always benign)
- Spitz Nevus
- polycystic ovary
- Stein-Leventhal
- 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)
- Tay-Sachs
- 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 tumorâ€) 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),
hyperviscosity - Waldenstrom’s macroglobinemia
-
Dx:
Ipsilateral: ataxia, facial pain & temp loss
Contralateral: body pain & temp loss
Where is brain?
What vessel? -
Wallenberg’s Syndrome -
lateral medulla
(PICA) -
catastrophic adrenal insufficiency w/ hemorrhagic necrosis (eg, DIC).
secondary to meningiococcemia - Waterhouse-Friderichsen
-
Ipsilateral: mydriasis
Contralateral: UMN paralysis
(lower face & body) - Weber’s Syndrome
- necrotizing granulomatous vasculitis of paranasal sinuses, lungs, kidneys, etc.
- Wegener’s Granulomatosis
- leptospirosis
- Weil’s Disease
-
presents w/ kidney stones & stomach ulcers...
find:
Pancreas, Pituitary, Parathyroid tumors
Inheritance? -
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
("WIPE")
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
- Zollinger-Ellison