Cerebrotendinous xanthomatosis-a case report with novel compound heterozygous mutation of CYP27A1 gene

Cerebrotendinous xanthomatosis (CTX), a rare autosomal recessive lipid storage disorder which is caused by mutations in gene CYP27A1 leads to deficiency of enzyme sterol 27-hydroxylase. Clinically, CTX is characterized by tendon xanthomas, premature atherosclerosis, juvenile cataracts and progressive neurological deficits. In this study, we report one 34 year-old Taiwanese man who developed bilateral xanthomas on Achilles tendon and progressive neuropsychiatric disorder. DNA sequencing revealed novel compound heterozygous mutation of CYP27A1 gene, 1072C > T (Gln358X) in exon 6 and c.496–497, 503–514 deletion in exon 1. Early diagnosis of CTX is crucial because treatment with chenodeoxycholic acid in time may prevent or improve neurological dysfunction.