Xantomatose cerebrotendínea: relato de dois casos / Cerebrotendinous xanthomatosis: a two-case report
Radiol. bras
;
43(2): 133-135, mar.-abr. 2010. ilus
Article
in English, Portuguese
| LILACS
| ID: lil-551822
RESUMO
Xantomatose cerebrotendínea é rara condição de natureza genética, na qual se observa redução na atividade da enzima hepática 27-hidroxilase, envolvida no metabolismo e excreção do colesterol. Consequentemente, depósitos de material lipídico (colesterol/colestanol) acumulam-se em diferentes regiões do organismo, principalmente tendões, sistema nervoso central e cristalino. Relatamos dois casos da doença em duas irmãs, mostrando os principais achados de imagem.
ABSTRACT
Cerebrotendinous xanthomatosis is a rare genetic disorder characterized by a decrease in activity of the hepatic sterol 27-hydroxylase involved in the cholesterol metabolism and excretion. Consequently, lipid (cholesterol/cholestanol) deposition is observed in different regions of the body, especially tendons, central nervous system and eye lens. The present report describes the cases of two sisters affected by this disease, highlighting the main imaging findings.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Xanthomatosis
/
Xanthomatosis, Cerebrotendinous
/
Rare Diseases
/
Early Diagnosis
Type of study:
Diagnostic study
/
Screening study
Limits:
Adult
/
Female
/
Humans
Language:
English
/
Portuguese
Journal:
Radiol. bras
Journal subject:
Diagnostic Imaging
/
Radiology
Year:
2010
Type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
Clínica Center-X Diagnósticos/BR
/
Colégio Brasileiro de Radiologia e Diagnóstico por Imagem/BR
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