A Case of Cerebrotendinous Xanthomatosis
Journal of the Korean Ophthalmological Society
; : 783-788, 1988.
Article
in Ko
| WPRIM
| ID: wpr-133435
Responsible library:
WPRO
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.
Full text:
1
Index:
WPRIM
Main subject:
Ataxia
/
Tendons
/
Cataract
/
Brain
/
Cataract Extraction
/
Xanthomatosis
/
Tomography, X-Ray Computed
/
Cerebellar Diseases
/
Cholestanol
/
Xanthomatosis, Cerebrotendinous
Limits:
Adult
/
Humans
Language:
Ko
Journal:
Journal of the Korean Ophthalmological Society
Year:
1988
Type:
Article