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100 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, Type 4 collagen defect (basement membranes)
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Alzheimer’s •
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progressive dementia; tau proteins, neurofibrillary tangles, apolipoprotein E4 allele, narrow gyri and wide sulci (atrophy), occipital sparing, hydrocephalus ex vacuo, plaques in hippocampus and cortex, Acetylcholine, Hiramo bodies (inrtacellular inclusion bodies in hippocampal cells)
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Argyll-Robertson Pupil •
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loss of light reflex constriction (contralateral or bilateral)
• “Prostitute’s Eye” - accommodates but does not react • Pathognomonic for 3Syphilis |
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Arnold-Chiari Malformation •
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cerebellar tonsil herniation
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Barrett’s •
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columnar metaplasia of lower esophagus (* risk of adenocarcinoma)
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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 (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
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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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circle of Willis (subarachnoid bleed)
• 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)
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Briquet’s Syndrome •
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somatization disorder
• psychological: multiple physical complaints without physical pathology |
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Broca’s Aphasia •
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Motor Aphasia intact comprehension
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Bronchiolitis
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RSV
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Brown-Sequard •
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hemisection of cord (contralateral loss of pain & temp / ipsilateral loss of fine touch, UMN)
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Bruton’s Disease •
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X-linked agammaglobinemia
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Budd-Chiari •
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post-hepatic venous thrombosis
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Buerger’s Disease •
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acute inflammation of small, medium arteries * painful ischemia * gangrene
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Burkitt’s Lymphoma •
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small noncleaved cell lymphoma EBV
• 8:14 translocation |
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Caisson Disease •
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gas emboli
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Carpal Tunnel Syndrome
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Median nerve entrapment
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Chagas’ Disease •
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Trypansoma infection sleeping disease, cardiomegaly with apical atrophy, achlasia
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Chediak-Higashi Disease •
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Phagocyte Deficiency: neutropenia, albinism, cranial & peripheral neuropathy
• repeated infections |
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Congenital adrenal hyperplasia
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21-hydroxylase deficiency: virilism, no cortisol, salt loss, hypotension
11-hydroxylase deficiency: virilism, no cortisol, salt retention, hypertension |
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Conn’s Syndrome •
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primary aldosteronism
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Cori’s Disease •
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glycogen storage disease (debranching enzyme deficiency)
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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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congenital hyperbilirubinemia (unconjugated)
• glucuronyl transferase deficiency |
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Crohn’s •
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IBD; ileocecum, transmural, skip lesions, lymphocytic infiltrate, granulomas
(contrast to UC: limited to colon, mucosa & submucosa, crypt abscesses, pseudopolyps, * colon cancer risk) |
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Croup
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Parainfluenza
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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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Disease: hypercorticism 2* to * ACTH from pituitary (basophilic adenoma)
• Syndrome: hypercorticism of all other causes (1* adrenal or ectopic) |
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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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thymic hypoplasia * T-cell deficiency
• hypoparathyroidism |
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Down’s Syndrome
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• trisomy 21 or translocation
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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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congenital hyperbilirubinemia (conjugated)
• 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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trisomy 18
• rocker-bottom feet, low ears, 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 (RL) 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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undifferentiated round cell tumor of bone
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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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adenomatous polyps of colon plus osteomas & soft tissue tumors
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Gaucher’s Disease
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Lysosomal Storage Disease glucocerebrosidase deficiency
· hepatosplenomegaly, femoral head & long bone erosion, anemia Crinkled tissue paper cells in marrow |
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Gilbert’s Syndrome
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· benign congenital hyperbilirubinemia (unconjugated)
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GIST
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Tumor arising in cells of Cajal (pacemakers of gut)
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Glanzmann's Thrombasthenia ·
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defective glycoproteins on platelets
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Goodpasture’s ·
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autoimmune: ab’s to glomerular & alveolar basement membranes; linear immunofluorescence
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Grave’s Disease ·
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autoimmune hyperthyroidism (TSI)
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Guillain-Barre
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· idiopathic polyneuritis (ascending muscle weakness & paralysis; usually self-limiting)
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Hamman-Rich Syndrome ·
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idiopathic pulmonary fibrosis
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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 (antimicrosomal or antithyroglobulin); Hurthle cells, thyroid germinal centers,
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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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• hypersensivity vasculitis
• hemmorhagic urticaria (with fever, arthralgias, GI & renal involvement) • associated with upper respiratory infections |
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Hereditary Spherocytosis
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RBC cytoskeletin defect, most commonly spectrin
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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
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· progressive degeneration of caudate nucleus, putamen & frontal cortex; AD
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Hunter’s
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Decreased iduronosulfate sulfatase
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Hurler’s
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Decreased alpha-L-iduronidase
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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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immune deficiency: neutrophils fail to respond to chemotactic stimuli
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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 (lips, oral mucosa)
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Keratoconjunctivitis
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adenovirus
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Klinefelter’s Syndrome
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· 47, XXY
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Kluver-Bucy
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· bilateral lesions of amygdala (hypersexuality; oral behavior)
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Krabbe Disease
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Beta-galactosidase deficiency
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Krukenberg Tumor ·
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adenocarcinoma with signet-ring cells (typically originating from the stomach) metastases to 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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· HGPRT deficiency
· gout, retardation, self-mutilation |
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Libman-Sacks
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· endocarditis with small vegetations on valve leaflets
· 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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· elastin defect, floppy mitral valve, arachnodactyly, cystic medial necrosis, subluxed lens
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McArdle’s Disease
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· glycogen storage disease (muscle phosphorylase deficiency)
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Meckel’s Diverticulum
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· 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.) |
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Meig’s Syndrome
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· Triad: ovarian fibroma, ascites, hydrothorax
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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.), pipestem arteries
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Munchausen Syndrome
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· factitious disorder (consciously creates symptoms, but doesn’t know why)
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Meningioma
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Arachnoid cap cells, whorls of cells
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Mesothelioma
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Asbestos exposure
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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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· Lysosomal Storage Disease sphingomyelinase deficiency
· “foamy histiocytes” |
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Osler-Weber-Rendu Syndrome ·
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Hereditary Hemorrhagic Telangiectasia
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Osteogenesis imperfecta
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Type I collagen defect
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Paget’s Disease
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· abnormal bone architecture (thickened, numerous fractures ®® pain) , woven and lamellar bone mosaic
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Pancoast Tumor
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· bronchogenic tumor with superior sulcus involvement ®® Horner’s Syndrome
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