Thursday, February 14, 2008

eponyms in medicine - part 10

91 - Wilson’s disease is hepatolenticular degeneration due to mutation in gene involved in incorporation of copper into ceruloplasmin and excretion of copper into bile; Kayser-Fleischer ring; gene on chr 13 - cation transporting P-type ATPase; incidence 1:200 -000 - diagnosis based on decrease in serum ceruloplasmin - increased urinary excretion of copper - increase in hepatic copper content; 40% have neurologic findings (Parkinson’s - psychosis) and subclinical liver.

92 - Wolman disease is lysosomal acid lipase deficiency hydrolysis of cholesteryl esters and triglycerides in the lysosome leading to mild mental retardation - hepatomegaly - adrenal calcification - fatal in infancy with inanition - malabsorption - and intractable diarrhea.

93 - Turner’s syndrome is females with XO - short - low-set ears - shield chest - congenital heart defect (usually coarctation) - café-au-lait spots - freckles - webbed neck - lymphedema.

94 - Wada test is test for hemispheric dominance for language by injecting amobarbital into carotid artery.

95 - Wallerian degeneration is pattern of degeneration of distal portion of nerve following axonal injury with break down of axon and formation of myelin ovoids from catabolized axon fragments.

96 - Hitzig zones is in tabes dorsalis (syphilis) - regions of reduced sensation found in central face - nipples - ulnar forearms - and peroneal legs - leading to painless ulcers and joint damage.

97 - Blumberg sign is rebound tenderness.

98 - Frank’s sign is earlobe crease - associated with CAD (N Engl J Med. 1973;289:327-8).

99 - Gorham-Stout disease is vanishing or disappearing bone disease; IL-6 has pathogenetic role.

100 - Holme’s heart is single ventricle with normally-related great arteries.

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