A Case of Cerebrotendinous Xanthomatosis / 대한피부과학회지
Korean Journal of Dermatology
; : 1261-1263, 2002.
Article
in Ko
| WPRIM
| ID: wpr-28383
Responsible library:
WPRO
ABSTRACT
Cerebrotendinous xanthomatosis is a rare, inherited lipid-storage disease clinically characterized by tendon xanthoma, progressive neurologic dysfunction(cerebellar ataxia, spinal cord involvement, mental retardation), premature atherosclerosis and cataracts. Substantial elevation of serum cholestanol and urinary bile alcohols with low to normal plasma cholesterol concentrations establishes the diagnosis. Up to now, there have not been any reported case of cerebrotendinous xanthomatosis in Korea. So, we report herein a 36-year-old Korean woman with the clinical features of cerebrotendinous xanthomatosis.
Key words
Full text:
1
Index:
WPRIM
Main subject:
Plasma
/
Ataxia
/
Spinal Cord
/
Tendons
/
Cataract
/
Xanthomatosis
/
Cholestanols
/
Cholesterol
/
Cholestanol
/
Xanthomatosis, Cerebrotendinous
Type of study:
Diagnostic_studies
Limits:
Adult
/
Female
/
Humans
Country/Region as subject:
Asia
Language:
Ko
Journal:
Korean Journal of Dermatology
Year:
2002
Type:
Article