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J Korean Acad Rehabil Med. 1998 Apr;22(2):460-464. Korean. Case Report.
Park CI , Kim YC , Shin JC , Kim YW , Lim KB .
Department of Rehabilitation Medicine, Yonsei University College of Medicine, Seoul, Korea.
Research Institute of Rehabilitation, Yonsei University College of Medicine, Seoul, Korea.

Cerebrotendinous Xanthomatosis is a rare inherited autosomal recessive disorder characterized by an increased plasma cholestanol level and the accumulation of sterol in tendon and nervous system. The primary biochemical abnormality is a defect in the synthesis of bile acid due to a lack of hepatic mitochondrial sterol-26-hydroxylase activity. The clinical symptoms usually begin in the 2nd decade and include cataract, xanthoma, and progressive neurological dysfunction. There are variable abnormal findings in the eletrophysiologic and radiologic evaluation. The usual treatment consists of long-term administration of the chenodeoxycholic acid (CDCA or UDCA) or cholic acid, which may correct the biochemical abnormality. We report a case of Cerebrotendinous Xanthomatosis in a 32 year old male patient suffered from gait disturbance and tendon xanthoma in both achilles tendons and left knee area.

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