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.
Opposed-phase MR imaging of lipid storage myopathyin a case of Chanarin–Dorfman disease
GAETA, Michele;MINUTOLI, Fabio;TOSCANO, Antonio;CELONA, Antonio;MUSUMECI, Olimpia;RACCHIUSA, SERGIO;MAZZIOTTI, Silvio
2008-01-01
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.File in questo prodotto:
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