Imaging of cerebrotendinous xanthomatosis

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 te...

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Bibliographic Details
Published in:Journal de radiologie 2006-12, Vol.87 (12 Pt 1), p.1883-1886
Main Authors: Nagi, S, Bouchriha, M, Sebaï, R, Marrakchi-Turki, Z, Zouaoui, W, Mrabet, H, Megdiche, H, Ben Slama, C, Touibi, S
Format: Article
Language:fre
Subjects:
Adult
Humans
Magnetic Resonance Imaging
Male
Tomography, X-Ray Computed
Xanthomatosis, Cerebrotendinous - diagnosis
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Summary: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.
ISSN:0221-0363
DOI:10.1016/S0221-0363(06)74169-5