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146 Cards in this Set

  • Front
  • Back
Addison’s Disease
Primary adrenocortical deficiency
Addisonian Anemia
Pernicious anemia (antibodies to intrinsic factor or parietal cells → ↓IF → ↓Vit B12 → megaloblastic anemia)
Albright’s Syndrome
Polyostotic fibrous dysplasia, precocious puberty, café au lait spots, short stature, young girls
Alport’s Syndrome
Hereditary nephritis with nerve deafness
Progressive Dementia
Argyll-Robertson Pupil
6. Loss of light reflex constriction (contralateral or bilateral)
7. “Prostitute’s Eye” – accommodates but does not react
8. Pathognomonic for 3°Syphilis
9. Lesion pretectal region of superior colliculus
Arnold-Chiari Malformation
Cerebellar tonsil herniation through foramen magnum = see thoracolumbar meningomyelocele
Columnar metaplasia of lower esophagus (↑ risk of adenocarcinoma)- constant gastroesophageal reflux
Bartter’s Syndrome
Becker’s Muscular Dystrophy
Similar to Duchenne, but less severe (mutation, not a deficiency, in dystrophin protein)
Bell’s Palsy
CNVII palsy (entire face; recall that UMN lesion only affects lower face)
Berger’s Disease
IgA nephropathy causing hematuria in kids, usually following infection
Bernard-Soulier Disease
Defect in platelet adhesion (abnormally large platelets & lack of platelet-surface glycoprotein)
Berry Aneurysm
17. Circle of Willis (subarachnoid bleed) Anterior Communicating artery
18. Often associated with ADPKD
Bowen’s Disease
Carcinoma in situ on shaft of penis (↑ risk of visceral ca) [compare w/ Queyrat]
Brill-Zinsser Disease
Recurrences of rickettsia prowazaki up to 50 yrs later
Briquet’s Syndrome
21. Somatization disorder
22. Psychological: multiple physical complaints without physical pathology
Broca’s Aphasia
Motor Aphasia (area 44 & 45) intact comprehension
Hemisection of cord (contralateral loss of pain & temp / ipsilateral loss of fine touch, UMN / ipsi loss of consc.
Bruton’s Disease
X-linked agammaglobinemia (↓ B cells)
Post-hepatic venous thrombosis = ab pain; hepatomegaly; ascites; portal HTN; liver failure
Buerger’s Disease
27. Acute inflammation of medium and small arteries of extremities → painful ischemia → gangrene
28. Seen almost exclusively in young and middle-aged men who smoke.
Burkitt’s Lymphoma
29. Small noncleaved cell lymphoma EBV
30. 8:14 translocation
31. Seen commonly in jaws, abdomen, retroperitoneal soft tissues
32. Starry sky appearance
Caisson Disease
Nitric gas emboli
Chagas’ Disease
Trypansoma infection - cardiomegaly with apical atrophy, achlasia
Chediak-Higashi Disease
35. (AR) Phagocyte Deficiency = defect in microtubule polymerization
36. Neutropenia, albinism, cranial & peripheral neuropathy & repeated infections w/ strep & staph
Conn’s Syndrome
Primary Aldosteronism: HTN; retain Na+ & H2O; hypokalemia (causing alkalosis); ↓ renin
Cori’s Disease
Type III Glycogenosis – Glycogen storage disease (debranching enz: amylo 1,6 glucosidase def. ↑ Glycogen)
Prion infection → cerebellar & cerebral degeneration
Crigler-Najjar Syndrome
40. Congenital hyperbilirubinemia (unconjugated)
41. Glucuronyl transferase deficiency. Can progress to Kernicterus
42. Less severe form will respond to Phenobarbital therapy
43. IBD; ileocecum, transmural, skip lesions, cobblestones, lymphocytic infiltrate, granulomas
44. (contrast to UC: limited to colon, mucosa & submucosa, crypt abscesses, pseudopolyps, ↑ colon cancer risk)
45. Clinically: ab pain & diarrhea; fever; malabsorption; fistulae b/t intestinal loops & abd structures
Curling’s Ulcer
Acute gastric ulcer associated with severe burns
47. Disease: Hypercorticism 2° to ↑ ACTH from pituitary (basophilic adenoma)
48. Syndrome: hypercorticism of all other causes (1° adrenal or ectopic)
49. - moon face; buffalo hump; purple striae; hirsutism; HTN; hyperglycemia
Cushing’s Ulcer
Acute gastric ulcer associated with CNS trauma
de Quervain’s Thyroiditis
Self-limiting focal destruction (subacute thyroiditis)
DiGeorge’s Syndrome
52. Failure of 3rd & 4th pharyngeal pouches formation: Thymus & Parathyroid
53. Thymic hypoplasia → T-cell deficiency
54. Hypoparathyroidism  Tetany
Down’s Syndrome
Trisomy 21 or translocation – Simian Crease
Dressler’s Syndrome
Post-MI Fibrinous Pericarditis autoimmune
Dubin-Johnson Syndrome
57. Congenital hyperbilirubinemia (conjugated) = bilirubin transposrt is defective not conjugation
58. Striking brown-to-black discoloration of the liver
Duchenne Muscular Dystrophy
Deficiency of dystrophin protein → MD X-linked recessive
Edwards’ Syndrome
60. Trisomy 18
61. Rocker-bottom feet, low ears, small lower jaw, heart disease
Defective collagen
Eisenmenger’s Complex
Late cyanotic shunt (R→L) pulmonary HTN & RVH 2° to long-standing VSD, ASD, or PDA
Erb-Duchenne Palsy
Trauma to superior trunk of brachial plexus Waiter’s Tip
Ewing Sarcoma
Malignant undifferentiated round cell tumor of bone in boys <15yoa - t11;22
Eyrthroplasia of Queyrat
Carcinoma in situ on glans penis
Fanconi’s Syndrome
Impaired proximal tubular reabsorption 2° to lead poisoning or Tetracycline (glycosuria,
hyperphosphaturia, aminoaciduria, systemic acidosis)
Felty’s Syndrome
Rheumatoid arthritis, neutropenia, splenomegaly
Gardner’s Syndrome
AD = adenomatous polyps of colon, osteomas & soft tissue tumors
Gaucher’s Disease
70. Lysosomal Storage Disease glucocerebrosidase deficiency – glucocerebroside accumulation
71. Hepatosplenomegaly, femoral head & long bone erosion, anemia
Gilbert’s Syndrome
Benign congenital hyperbilirubinemia (unconjugated) = ↓d glucuronyl transferase activity
Glanzmann’s Thrombasthenia
Defective glycoproteins on platelets = deficient platelet aggregation
Autoimmune: ab’s to glomerular & alveolar basement membranes. Seen in men in their 20’s
Grave’s Disease
Autoimmune hyperthyroidism (TSI): IgG Ab reactive w/ TSH receptors. Low TSH & TRH – High T3 /
Polyneuritis following viral infection/ autoimmune (ascending muscle weakness & paralysis; usually self-limiting)
Hamman-Rich Syndrome
Idiopathic pulmonary fibrosis. Can see honey comb lung.
Chronic progressive histiocytosis
Hashimoto’s Thyroiditis
Autoimmune hypothyroidism. May have transient hyperthyroidism. Low T3 /T4 & High TSH
Initial hyperthyroidism in Hashimoto’s Thyroiditis that precedes hypothyroidism
Henoch-Schonlein purpura
81. Hypersensivity vasculitis = allergic purpura. Lesions have the same age.
82. Hemmorhagic urticaria (with fever, arthralgias, GI & renal involvement)
83. 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 (Chromosome 4)
AD: Progressive degeneration of caudate nucleus, putamen (striatum) & frontal cortex ↓ GABA
Jacksonian Seizures
Epileptic events originating in the primary motor cortex (area 4)
Job’s Syndrome
1. Immune deficiency: neutrophils fail to respond to chemotactic stimuli
2. Defective neutrophilic chemotactic response = repeated infections
3. Commonly seen in light-skinned, red-haired girls
88. ↑’d IgE levels
Kaposi Sarcoma
Malignant vascular tumor (HHV8 in homosexual men)
Kartagener’s Syndrome
Immotile cilia 2° to defective dynein arms infection, situs inversus, sterility
Kawasaki Disease
Mucocutaneous lymph node syndrome in kids (acute necrotizing vasculitis of lips, oral mucosa)
Klinefelter’s Syndrome
47, XXY: Long arms, Sterile, Hypogonadism
Bilateral lesions of amygdala (hypersexuality; oral behavior)
Krukenberg Tumor
94. Adenocarcinoma with signet-ring cells (typically originating from the stomach) metastases to
95. the ovaries
Laennec’s Cirrhosis
Alcoholic cirrhosis
97. HGPRT deficiency
98. Gout, retardation, self-mutilation
Acute disseminated Langerhans’ cell histiocytosis
100. Endocarditis with small vegetations on valve leaflets
101. Associated with SLE
Lou Gehrig’s
Amyotrophic Lateral Sclerosis degeneration of upper & lower motor neurons
Mallory-Weis Syndrome
Bleeding from esophagogastric lacerations 2° to wretching (alcoholics)
Connective tissue defect: defective Fibrillin gene Dissecting aortic aneurysm, subluxation of lenses
McArdle’s Disease
Type V Glycogenosis - Glycogen storage disease (muscle phosphorylase deficiency = ↑ Glycogen)
Meckel’s Diverticulum
106. Rule of 2’s: 2 inches long, 2 feet from the ileocecum, in 2% of the population
107. Embryonic duct origin; may have ectopic tissue: gastric/pancreatic remnant of vitteline duct/yolk stalk
Meig’s Syndrome
Triad: ovarian fibroma, ascites, hydrothorax – associated w/ fibroma of ovaries
Menetrier’s Disease
Giant hypertrophic gastritis (enlarged rugae; plasma protein loss)
Monckeberg’s Arteriosclerosis
Calcification of the media (usually radial & ulnar aa.)
Munchausen Syndrome
Factitious disorder (consciously creates symptoms, but doesn’t know why)
Nelson’s Syndrome
1° Adrenal Cushings → surgical removal of adrenals → loss of negative feedback to pituitary →
Pituitary Adenoma
113. Lysosomal Storage Disease (sphingomyelinase deficiency – sphingomyelin accumulation)
114. “Foamy histiocytes”
Osler-Weber-Rendu Syndrome
Hereditary Hemorrhagic Telangiectasia. Seen in the Mormon’s of Utah.
Paget’s Disease
Abnormal bone architecture (thickened, numerous fractures → pain)
Pancoast Tumor
Bronchogenic tumor with superior sulcus involvement → Horner’s Syndrome
Dopamine depletion in nigrostriatal tracts
Peutz-Jegher’s Syndrome (AD)
Melanin pigmentation of lips, mouth, hand, genitalia + hamartomatous polyps of small intestine
Peyronie’s Disease
Subcutaneous fibrosis of dorsum of penis
Pick’s Disease – 2 Different
Diseases -
121. 1. Progressive dementia similar to Alzheimer’s
122. 1. Constrictive pericarditis – sequel to mediastinal tuberculosis
123. Calcium-frosting, unyielding layer – heart chambers may be unable to dilate to receive blood during diastole
Plummer’s Syndrome
Hyperthyroidism, nodular goiter, absence of eye signs (Plummer’s = Grave’s - eye signs)
Esophageal webs & iron-deficiency anemia, spoon-shaped nails, ↑ SCCA of esophagus
Pompe’s Disease
Type II Glycogenosis – Glycogen storage disease → cardiomegaly (α 1,4 Glucosidase deficiency: ↑
Pott’s Disease
Tuberculous osteomyelitis of the vertebrae
Potter’s Complex
Renal agenesis → oligohydramnios → hypoplastic lungs, defects in extremities
129. Disease: recurrent vasospasm in extremities = seen in young, healthy women
130. Phenomenon: 2° to underlying disease (SLE or scleroderma)
Reiter’s Syndrome
Urethritis, conjunctivitis, arthritis non-infectious (but often follows infections), HLA-B27, polyarticular
Reye’s Syndrome
132. Microvesicular fatty liver change & encephalopathy
133. 2° to aspirin ingestion in children following viral illness, especially VZV
Riedel’s Thyroiditis
Idiopathic fibrous replacement of thyroid
Rotor Syndrome
135. Congenital hyperbilirubinemia (conjugated)
136. Similar to Dubin-Johnson, but no discoloration of the liver
Sezary Syndrome
Leukemic form of cutaneous T-cell lymphoma (mycosis fungoides)
Shaver’s Disease
Aluminum inhalation → lung fibrosis
Sheehan’s Syndrome
Postpartum pituitary necrosis = hemorrhage & shock usually occurred during delivery
Parkinsonism with autonomic dysfunction & orthostatic hypotension
Simmond’s Disease
Pituitary cachexia – can occur from either pituitary tumors or Sheehan’s
Sipple’s Syndrome
MEN type IIa = pheochromocytoma, thyroid medullary CA, hyperparathyroidism
Sjogren’s Syndrome
Triad: dry eyes, dry mouth, arthritis ↑ risk of B-cell lymphoma
Spitz Nevus
Juvenile melanoma (always benign)
Polycystic ovary: see amenorrhea; infertility; obesity; hirsutism = ↑↑LH secretion
Stevens-Johnson Syndrome
Erythema multiforme, fever, malaise, mucosal ulceration (often 2° to infection = mycoplasma or sulfa
Still’s Disease
Juvenile rheumatoid arthritis (absence of rheumatoid factor)
Takayasu’s arteritis
148. Aortic arch syndrome
149. Loss of carotid, radial or ulnar pulses = pulseless disease. Night sweats.
150. Common in young Asian females
Tay-Sachs (AR)
Gangliosidosis (hexosaminidase A deficiency → GM2 ganglioside) Cherry Red Spots of the Macula
Tetralogy of Fallot
1.VSD, 2.overriding aorta, 3.pulmonary artery stenosis, 4.right ventricular hypertrophy
Tourette’s Syndrome
Involuntary actions, both motor and vocal Txt w/ Pimozide
Turcot’s Syndrome
Colon adenomatous polyps plus CNS tumors
Turner’s Syndrome
45, XO = most common cause of Primary Amenorrhea. No Barr body on buccal smear.
Vincent’s Infection
“Trench mouth” – acute necrotizing ulcerative gingivitis due to FUSOBACTERIUM
Von Gierke’s Disease
Type I Glycogenosis – Glycogen storage disease (G6Ptase deficiency) – Glycogen accumulaiton
Von Hippel-Lindau
158. Hemangioma (or hemangioblastoma) = cerebellum, brain stem, & retina
159. Adenomas of the viscera, especially ↑ Renal Cell Carcinoma
160. Chromosome 3p
Von Recklinghausen’s
Neurofibromatosis & café au lait spots & Lisch nodules (Chromosome 17)
Von Recklinghausen’s Disease of Bone
162. Osteitis fibrosa cystica (“brown tumor”) 2° to hyperparathyroidism = osteoclastic resorption w/
163. fibrous replacement
Von Willebrand’s Disease (AD)
Defect in platelet adhesion 2° to deficiency in vWF. ↑aPPT, ↑ Bleed time
Waldenstrom’s macroglobinemia
Proliferation of IgM-producing lymphoid cells in men 50-70 yoa; PAS(+) DUTCHER BODIES
Wallenberg’s Syndrome
166. Posterior Inferior Cerebellar Artery (PICA) thrombosis “Medullary Syndrome”
167. Ipsilateral: ataxia, facial pain & temp; Contralateral: body pain & temp
168. Adrenal insufficiency 2° to DIC
169. DIC 2° to meningiococcemia
(bilateral adrenal gland atrophy)
Weber’s Syndrome
170. Paramedian Infarct of Midbrain
171. Ipsilateral: mydriasis; Contralateral: UMN paralysis (lower face & body)
Wegener’s Granulomatosis
Necrotizing granulomatous vasculitis of paranasal sinuses, lungs, kidneys, etc.
Weil’s Disease
173. Icteric Leptospirosis non-icteric prgresses to renal failure & myocarditis
174. Dark field microscopy for dx
Wermer’s Syndrome
MEN type I = thyroid, parathyroid, adrenal cortex, pancreatic islets, pituitary
Wernicke’s Aphasia
Sensory Aphasia impaired comprehension
Wernicke-Korsakoff Syndrome
Thiamine deficiency in alcoholics; bilateral mamillary bodies (mediodorsal nucleua) (confusion, ataxia,
Whipple’s Disease
Malabsorption syndrome (with bacteria-laden macrophages) & polyarthritis
Wilson’s Disease
179. Hepatolenticular degeneration (copper accumulation [Txt w/ Penicillamine ] & decrease in ceruloplasmin)
180. Mallory Bodies in the Liver & also w/ alcoholic hepatitis & Hyaline change
181. Chromosome 13
Wiskott-Aldrich Syndrome
182. Immunodeficiency: combined B- &T-cell deficiency (thrombocytopenia & eczema)
183. ↓ IgM w/ ↑ IgA
Wolff-Chaikoff Effect
High iodine level (−)’s thyroid hormone synthesis
Zenker’s Diverticulum
Esophageal; cricopharyngeal muscles above UES
Gastrin-secreting tumor of pancreas (or intestine) → ↑ acid → recurrent ulcers
Roger’s Disease
Interventricular septal defect
Barlow’s Syndrome
Floppy vale syndrome – women b/t 20-40 yoa
Bracht-Wachter Lesions
Minute abscesses found in subacute bacterial endocarditis
Lutembacher’s Syndrome
Combination of septum secundum atrial septal defect w/ mitral stenosis
Schmidt’s Syndrome
Autoimmnue thyroid Disease (Hashimoto’s ) & insulin-dependent diabetes