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cerebrotendinous xanthomatosis

(sĕr′ə-brō-tĕndə-nəs, sə-rē′brō-)
n.
  1. An inherited disorder associated with the deposition of a form of cholesterol in the brain and other tissues and with elevated levels of cholesterol in plasma but with normal total cholesterol level; it is characterized by progressive cerebellar ataxia beginning after puberty and by juvenile cataracts, and tendinous or tuberous xanthomas.
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The American Heritage® Stedman's Medical Dictionary Copyright © 2002, 2001, 1995 by Houghton Mifflin Company. Published by Houghton Mifflin Company.