Cerebrotendinous xanthomatosis.
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.
Hwang
S Y
SY
Department of Dermatology, Yonsei University College of Medicine, Seoul, Korea.
Lee
K H
KH
Ahn
J I
JI
D000328:Adult; D002777:Cholestanols / Q000032:analysis*; D002849:Chromatography, Gas; D005260:Female; D006801:Humans; D014973:Xanthomatosis / Q000097:blood / Q000175:diagnosis* / Q000652:urine
D002777:Cholestanols