Abstract
Cerebrotendinous xanthomatosis (CTX) is a rare hereditary disease characterized by tendon xanthomas, dementia, cataracts, cerebellar ataxia. In this paper, a 43-year-old man with typical signs and symptoms of CTX is described. In spite of tendon xanthomas, serum cholesterol concentration was normal. The concentration of cholic acid showed high level, which occupied 75.6 % and 91.0% of total bile acids in serum and in bile, respectively, and those of chenodeoxycholic acid, deoxycholic acid, ursodeoxycholic acid were extremely low. Bile alcohols were identified, for instance 5β-cholestane-3α, 7α, 12α, 25-tetrols (in bile 50.8 %, and in feces 54.3 %) . Administration of ursodeoxycholic acid and chenodeoxycholic acid for 180 days resulted in no changes of neurological signs and symptoms.
