[Imaging of cerebrotendinous xanthomatosis]. / Imagerie de la xanthomatose cérébrotendineuse.
J Radiol
; 87(12 Pt 1): 1883-6, 2006 Dec.
Article
en Fr
| MEDLINE
| ID: mdl-17213773
ABSTRACT
Cerebrotendinous xanthomatosis is a rare lipid storage disorder due tocaused by an autosomal recessive inherited defect of the hepatic mitochondrial sterol 27 hydroxylase. It's characterized by accumulation of cholestanol and cholesterol in many tissues, in particular tendons and brain, with tendon xanthomas, juvenile cataracts, and neurological abnormalities. MR imaging showed typical bilateral and symmetrical involvement of the dentate nuclei. Early and long- term treatment may improve neurologic function. The authors present a case of cerebrotendinous xanthomatosis and describe ultrasound, computed tomography, and magnetic resonance findings.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Xantomatosis Cerebrotendinosa
Límite:
Adult
/
Humans
/
Male
Idioma:
Fr
Revista:
J Radiol
Año:
2006
Tipo del documento:
Article
País de afiliación:
Túnez