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Cerebrotendinous Xanthomatosis
Author(s) -
Hwang Seon Young,
Lee Kwang Hoon,
Ahn Jae In
Publication year - 1990
Publication title -
the journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.9
H-Index - 65
eISSN - 1346-8138
pISSN - 0385-2407
DOI - 10.1111/j.1346-8138.1990.tb03717.x
Subject(s) - cerebrotendinous xanthomatosis , cholestanol , xanthoma , medicine , cataracts , urine , pathology , ophthalmology , sterol , cholesterol
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.