• Skeletal radiology · Nov 2008

    Case Reports

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

    • Michele Gaeta, Fabio Minutoli, Antonio Toscano, Antonio Celona, Olimpia Musumeci, Sergio Racchiusa, and Silvio Mazziotti.
    • Department of Radiological Sciences, University of Messina, Policlinico G. Martino, Via Consolare Valeria 1, 98100, Messina, Italy.
    • Skeletal Radiol. 2008 Nov 1; 37 (11): 1053-7.

    AbstractChanarin-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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