Cerebrotendinous xanthomatosis

S. Y. Hwang, Kwanghoon Lee, J. I. Ahn

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Abstract

A case report on a 23-year-old female patient with cerebrotendinous xanthomatosis (CTX) is presented. From 8 years of age, the patient clinically showed multiple xanthoma masses on both knees, both heels, and the nasal bridge, juvenile cataracts, multiple abnormal neurologic dysfunctions, and dementia. The level of cholestanol in urine, serum, and xanthoma mass tissues was increased, as determined by capillary gas chromatography.

Original languageEnglish
Pages (from-to)115-119
Number of pages5
JournalJournal of Dermatology
Volume17
Issue number2
DOIs
Publication statusPublished - 1990 Jan 1

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All Science Journal Classification (ASJC) codes

  • Dermatology

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