A Case of Cerebrotendinous Xanthomatosis.
- Author:
Won Ki LEE
1
;
Byung Joo YOON
Author Information
1. Department of Ophthalmology, National Medical Center, Seoul, Korea.
- Publication Type:Case Report
- MeSH:
Adult;
Ataxia;
Brain;
Cataract;
Cataract Extraction;
Cerebellar Diseases;
Cholestanol;
Dementia;
Fungi;
Humans;
Tendons;
Tomography, X-Ray Computed;
Xanthomatosis;
Xanthomatosis, Cerebrotendinous*
- From:Journal of the Korean Ophthalmological Society
1988;29(4):783-788
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Cerebrotendinous xanthomatosis(CTX) is a rare familial, autosomal disease which seems to be inherited as a Mendelian recessive. It was first described by van Bogaert et al, in 1937 and only about 30 cases have been reported in the literature. CTX is characterized by tendon xanthomas, bilateral juvenile cataracts, progressive dementia and cerebella ataxia. And deposition of cholestanol appears to be the primary lesion in this disease. We experienced a patient, 43-year-old man who sbowed bilateral cataracts, mold cerebellar dysfunction and multiple xanthomas, the tendinous xanthomatosis was confirmed pathologically and the brain CT scan abnormalities were correlated with neuropathologic findings of CTX. We performed extracapsular cataract extraction on both eyes with a significant improvement in corrected vision.
