Korean J Dermatol.
2002 Oct;40(10):1261-1263.
A Case of Cerebrotendinous Xanthomatosis
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- 1Department of Dermatology, Yonsei University Wonju College of Medicine, Wonju, Korea. ywskin@unitel.co.kr
Abstract
- Cerebrotendinous xanthomatosis is a rare, inherited lipid-storage disease clinically characterized by tendon xanthoma, progressive neurologic dysfunction(cerebellar ataxia, spinal cord involvement, mental retardation), premature atherosclerosis and cataracts. Substantial elevation of serum cholestanol and urinary bile alcohols with low to normal plasma cholesterol concentrations establishes the diagnosis. Up to now, there have not been any reported case of cerebrotendinous xanthomatosis in Korea. So, we report herein a 36-year-old Korean woman with the clinical features of cerebrotendinous xanthomatosis.
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