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