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

Gaeta, Michele; Minutoli, Fabio; Toscano, Antonio; Celona, Antonio; Musumeci, Olimpia; Racchiusa, Sergio; Mazziotti, Silvio · Skeletal Radiol · 2008

case_report · Level V

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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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