A case of cerebrotendinous xanthomatosis

Se Wons Lee, Eung Ho Choi, Sung Ku Ahn

Research output: Contribution to journalArticle

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

Fingerprint

Cerebrotendinous Xanthomatosis
Cholestanols
Cholestanol
Xanthomatosis
Cerebellar Ataxia
Korea
Neurologic Manifestations
Intellectual Disability
Tendons
Cataract
Spinal Cord
Atherosclerosis
Cholesterol
Lipids
Serum

All Science Journal Classification (ASJC) codes

  • Dermatology

Cite this

Lee, S. W., Choi, E. H., & Ahn, S. K. (2002). A case of cerebrotendinous xanthomatosis. Korean Journal of Dermatology, 40(10), 1261-1263.
Lee, Se Wons ; Choi, Eung Ho ; Ahn, Sung Ku. / A case of cerebrotendinous xanthomatosis. In: Korean Journal of Dermatology. 2002 ; Vol. 40, No. 10. pp. 1261-1263.
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Lee, SW, Choi, EH & Ahn, SK 2002, 'A case of cerebrotendinous xanthomatosis', Korean Journal of Dermatology, vol. 40, no. 10, pp. 1261-1263.

A case of cerebrotendinous xanthomatosis. / Lee, Se Wons; Choi, Eung Ho; Ahn, Sung Ku.

In: Korean Journal of Dermatology, Vol. 40, No. 10, 01.10.2002, p. 1261-1263.

Research output: Contribution to journalArticle

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