English

Abstract

INTRODUCTION: Cerebrotendinous Xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease first described in 1937 by van Bogaert et al(1) In 1974, Setoguchi et al. made the finding that CTX is linked to a defect in bile acid synthesis.(2) It is caused by mutations in the CYP27A1 gene, which lead to deficiency of the mitochondrial enzyme, sterol 27-hydroxylase, resulting in the accumulation of cholestanol in the serum and many affected tissues(3) CTX manifests as tendon xanthomas, juvenile cataracts and seizures multiple progressive neurological symptoms. Systemic manifestations including osteoporosis(4) heart involvement and premature atherosclerosis are often found. Chronic infantile diarrhea due to defective bile acid synthesis, is often the earliest symptoms of CTX.(5) Replacement treatment with chenodeoxycholic acid (CDCA) has been reported to improve clinical symptoms of CTX.