Cerebrotendinous xanthomatosis in three siblings from a Taiwanese family.
We present and discuss the clinical and biochemical findings of three siblings with cerebrotendinous xanthomatosis, which has not been previously reported in Taiwan. Clinical features consisted of tendinous xanthomas, cataracts, mental defects, pyramidal signs, cerebellar ataxia, peripheral neuropathy and renal stones. Biochemical findings included normal serum cholesterol levels, high serum cholestanol levels and elevated serum cholestanol to cholesterol ratios. The serum levels of cholesterol precursor (lathosterol) and plant sterols (campesterol, sitosterol) were also elevated.
Chang
W N
WN
Department of Neurology, Chang Gung Memorial Hospital, Kaohsiung, Taiwan, R.O.C.
Kuriyama
M
M
Lui
C C
CC
Jeng
S F
SF
Chen
W J
WJ
Chee
E C
EC
D000328:Adult; D001927:Brain Diseases / Q000097:blood / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009135:Muscular Diseases / Q000097:blood / Q000235:genetics; D010375:Pedigree; D013261:Sterols / Q000097:blood; D013710:Tendons; D014973:Xanthomatosis / Q000097:blood / Q000235:genetics*
D013261:Sterols