A Case of Cerebrotendinous Xanthomatosis.
- Author:
Chang Il PARK
1
;
You Chul KIM
;
Ji Cheol SHIN
;
Yong Wook KIM
;
Kil Byung LIM
Author Information
1. Department of Rehabilitation Medicine, Yonsei University College of Medicine, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Cerebrotendinous xanthomatosis;
Cholestanol
- MeSH:
Achilles Tendon;
Adult;
Bile;
Cataract;
Chenodeoxycholic Acid;
Cholestanol;
Cholic Acid;
Gait;
Humans;
Knee;
Male;
Nervous System;
Plasma;
Tendons;
Xanthomatosis;
Xanthomatosis, Cerebrotendinous*
- From:Journal of the Korean Academy of Rehabilitation Medicine
1998;22(2):460-464
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
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.
