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뇌건황색종증 1예 -증례보고-

Other Titles
 A Case of Cerebrotendinos Xanthomatosis 
 박창일  ;  김유철  ;  신지철  ;  김용욱  ;  임길병 
 Journal of the Korean Academy of Rehabilitation Medicine (대한재활의학회지), Vol.22(2) : 460-464, 1998 
Journal Title
Journal of the Korean Academy of Rehabilitation Medicine(대한재활의학회지)
Issue Date
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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Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Rehabilitation Medicine (재활의학교실) > 1. Journal Papers
Yonsei Authors
Kim, Yong Wook(김용욱) ORCID logo https://orcid.org/0000-0002-5234-2454
Park, Chang Il(박창일)
Shin, Ji Cheol(신지철) ORCID logo https://orcid.org/0000-0002-1133-1361
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