부산대학교 도서관

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease. The loss of sterol 27-hydroxylase in bile acid synthesis results in accumulation of cholestanol in the tendon and nervous system. We present the case of a 42-year-old male with CTX suffering from enlargement of the bilateral Achilles tendon and gait disturbance. Clinical features consisted of bilateral Achilles tendon xanthomas, mental retardation, pyramidal signs, cerebellar signs, and cataracts. CTX was diagnosed by normal serum cholesterol levels and high serum cholestanol levels as well as characteristic clinical manifestations. We performed partial rsection of the Achilles tendon xanthomas because of gait difficulty. The patient postoperatively obtained improvement in the range of motion of the ankle joint and gait ability. We are also treating the patient with chenodeoxycholic acid (CDCA) for the purpose of correction of biochemical abnormalities and improvement in neurological symptoms.