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01-11-2008 | Case Report

Opposed-phase MR imaging of lipid storage myopathy in a case of Chanarin–Dorfman disease

Authors: Michele Gaeta, Fabio Minutoli, Antonio Toscano, Antonio Celona, Olimpia Musumeci, Sergio Racchiusa, Silvio Mazziotti

Published in: Skeletal Radiology | Issue 11/2008

Abstract

Chanarin–Dorfman disease (CDD) is a rare genetic disorder characterized by ichthyosis, myopathy, central nervous system disturbances, and intracellular lipid storage in muscle fibers, hepatocytes, and granulocytes. We describe skeletal muscle magnetic resonance imaging findings in a case of CDD, outlining the potential role of GE T1-weighted opposed-phase sequence (chemical shift imaging) in the evaluation of lipid storage myopathies.

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Title: Opposed-phase MR imaging of lipid storage myopathy in a case of Chanarin–Dorfman disease
Authors: Michele Gaeta
Fabio Minutoli
Antonio Toscano
Antonio Celona
Olimpia Musumeci
Sergio Racchiusa
Silvio Mazziotti
Publication date: 01-11-2008
Publisher: Springer Berlin Heidelberg
Published in: Skeletal Radiology / Issue 11/2008
Print ISSN: 0364-2348
Electronic ISSN: 1432-2161
DOI: https://doi.org/10.1007/s00256-008-0559-8

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Opposed-phase MR imaging of lipid storage myopathy in a case of Chanarin–Dorfman disease

Abstract

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