Tuesday, February 19, 2008

eponyms in medicine - part 18

171 - Gorlin-Goltz syndrome is focal dermal hypoplasia characterzied by widespread lesions of dermal hypoplsia with herniation of adipose tissue - streaks of pigmentary disturbance following lines of Blaschko - and severe absence deformities of bone - mental retardation - defects of optic nerve.

172 - Doi’s sign is elicitation of diminished deep tendon reflexes after maximal voluntary contraction in Lambert-Eaton syndrome.

173 - Kussmaul-Maier disease is old name for polyarteritis nodosa.

174 - Lafora’s disease is progressive myoclonus epilepsy - autosomal recessive - onset teenage years - characterized by seizures and cumulative neurological deterioration - death usually within ten years of first symptoms; associated with intracellular inclusions (Lafora bodies); associated with mutation in gene EPM2A.

175 - Kveim antigen is saline suspension of human sarcoid tissue prepared from spleen of an individual with active sarcoidosis; used in Kveim-Sitzbach test.

176 - Schick’s test is for testing immune status to Cornyebacterium diphtheriae - intradermal injection of 0.1 mL of purified standardized toxin; if no inflammation - antitoxin present.

177 - Swyer-James syndrome is in pediatrics - acquired hypoplastic lung that develops after severe obliterative bronchiolitis associated with bronchiolar obstruction - bronchiectasis - and distal air-space destruction.

178 - Kernohan notch is focal impression against the cerebral peduncle - pressure against notch in uncal herniation.

179 - stiff-man syndrome is chronic disorder of involuntary stiffness - painful muscle spasms - and rigidity - predominantly in the axial muscles; often occurs in conjunction with autoimmune diseases - particularly type I diabetes - associated with circulating antibodies to glutamic acid decarboxylase.

180 - Steele-Richardson-Olszewski syndrome is aka progressive supranuclear palsy.

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