Cerebrotendinous xanthomatosis

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

Research output: Contribution to journalArticle

7 Citations (Scopus)

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

Fingerprint

Cerebrotendinous Xanthomatosis
Xanthomatosis
Cholestanol
Heel
Neurologic Manifestations
Nose
Gas Chromatography
Cataract
Dementia
Knee
Urine
Serum

All Science Journal Classification (ASJC) codes

  • Dermatology

Cite this

Hwang, S. Y. ; Lee, Kwanghoon ; Ahn, J. I. / Cerebrotendinous xanthomatosis. In: Journal of Dermatology. 1990 ; Vol. 17, No. 2. pp. 115-119.
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Cerebrotendinous xanthomatosis. / Hwang, S. Y.; Lee, Kwanghoon; Ahn, J. I.

In: Journal of Dermatology, Vol. 17, No. 2, 01.01.1990, p. 115-119.

Research output: Contribution to journalArticle

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