A case of cerebrotendinous xanthomatosis

Se Wons Lee, Eung Ho Choi, Sung Ku Ahn

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)

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.

Original languageEnglish
Pages (from-to)1261-1263
Number of pages3
JournalKorean Journal of Dermatology
Volume40
Issue number10
Publication statusPublished - 2002 Oct 1

All Science Journal Classification (ASJC) codes

  • Dermatology

Fingerprint Dive into the research topics of 'A case of cerebrotendinous xanthomatosis'. Together they form a unique fingerprint.

Cite this