J Korean Ophthalmol Soc.
1988 Aug;29(4):775-782.
A Case of preeumect Cerebrotedinous Xanthomatosis
- Affiliations
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- 1Department of Ophthalmology, Yonsei University Wonju College of Medicine, Wonju, Korea.
Abstract
- Cerebrotendinous xanthomatosis is a very rare lipid storage disease which is inherited as autosomal recessive trait. The disease is due to an abnormality of cholesterol metabolism, in which excess formation of cholestanol and defect of bile acid synthesis were found. So abnormally high concentration of cholestanol is deposited within the nervous system, the tendons and the other tissues. But, the basic biochemical defect has not as yet been identified. Cerebrotendinous xanthomatosis is characterized by bilateral juvenile cataracts and tendinous xanthomas followed by progressive dementia and cerebellar ataxia. The condition progresses slowly. Death usually occurs during the sixth or seventh decade due to progressive pseudobulbar palsy. The authors have experienced and report a case of presumed cerebrotendinous xanthomatosis in 23-year-old Korean female, and the literatures were reviewed briefly.
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