J Korean Acad Rehabil Med Search


Journal of the Korean Academy of Rehabilitation Medicine 1998;22(2):460-464.
A Case of Cerebrotendinous Xanthomatosis.
Park, Chang Il , Kim, You Chul , Shin, Ji Cheol , Kim, Yong Wook , Lim, Kil Byung
1Department of Rehabilitation Medicine, Yonsei University College of Medicine, Seoul, Korea.
2Research Institute of Rehabilitation, Yonsei University College of Medicine, Seoul, Korea.
뇌건황색종증 1예 ⁣증례 보고⁣
박창일, 김유철, 신지철, 김용욱, 임길병
연세대학교 의과대학 재활의학교실 및 재활의학연구소

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.

Key Words: Cerebrotendinous xanthomatosis, Cholestanol


Browse all articles >

Terms of Use   |   Privacy Polity
Editorial Office
Department of Rehabilitation Medicine, Seoul National University Hospital
101 Daehak-ro, Jongno-gu, Seoul, Korea
Tel: +82-10-8678-2671    Fax: +82-2-6072-5244    E-mail: edit@e-arm.org; edit.karm@gmail.com
Business Registration: 110-82-07460                

Copyright © 2024 by Korean Academy of Rehabilitation Medicine.

Developed in M2PI

Close layer