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Radiologia Brasileira

On-line version ISSN 1678-7099

Abstract

TORRES, Pedro Paulo Teixeira e Silva et al. Cerebrotendinous xanthomatosis: a two-case report. Radiol Bras [online]. 2010, vol.43, n.2, pp.133-135. ISSN 1678-7099.  http://dx.doi.org/10.1590/S0100-39842010000200015.

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.

Keywords : Cerebrotendinous xanthomatosis; Xanthomatosis; Hypercholesterolemia; Magnetic resonance imaging; Computed tomography.

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