Long-term follow-up on the effect of combined therapy of bile acids and statins in the treatment of cerebrotendinous xanthomatosis: A case report

Cerebrotendinous xanthomatosis (CTX; OMIM 213700) is a rare utosomal recessive inborn error caused by a deficit in bile acid synhesis. A deficiency of the enzyme sterol 27-hydroxylase causes the ccumulation of cholesterol and cholestanol in virtually all tissues. he molecular defect is localized to mutations of the CYP27A1 gene chrom. 2q33-qter), causing a variety of associated symptoms [1]. ystemic and neurological symptoms include intractable diarrhea, uvenile cataracts, tendon xanthomas, and progressive neurologic igns and symptoms. The systemic features typically appear at an arlier age than the neurological manifestations. The principal treatment for CTX is chenodeoxycholic acid CDCA), which inhibits excessive cholesterol and cholestanol ynthesis. Statins are currently thought to be beneficial, when comined with CDCA, yet this remains to be proven. Symptomatic herapies are also important.