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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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Published in: | Journal de radiologie 2006-12, Vol.87 (12 Pt 1), p.1883-1886 |
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Language: | fre |
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container_end_page | 1886 |
container_issue | 12 Pt 1 |
container_start_page | 1883 |
container_title | Journal de radiologie |
container_volume | 87 |
creator | Nagi, S Bouchriha, M Sebaï, R Marrakchi-Turki, Z Zouaoui, W Mrabet, H Megdiche, H Ben Slama, C Touibi, S |
description | 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. |
doi_str_mv | 10.1016/S0221-0363(06)74169-5 |
format | article |
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ispartof | Journal de radiologie, 2006-12, Vol.87 (12 Pt 1), p.1883-1886 |
issn | 0221-0363 |
language | fre |
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source | BACON - Elsevier - GLOBAL_SCIENCEDIRECT-OPENACCESS |
subjects | Adult Humans Magnetic Resonance Imaging Male Tomography, X-Ray Computed Xanthomatosis, Cerebrotendinous - diagnosis |
title | Imaging of cerebrotendinous xanthomatosis |
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