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- Title
Opposed-phase MR imaging of lipid storage myopathy in a case of Chanarin-Dorfman disease.
- Authors
Gaeta, Michele; Minutoli, Fabio; Toscano, Antonio; Celona, Antonio; Musumeci, Olimpia; Racchiusa, Sergio; Mazziotti, Silvio
- 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.
- Subjects
LIPIDOSES; DIAGNOSIS of muscle diseases; CONGENITAL ichthyosiform erythroderma; CONSANGUINITY; DIFFERENTIAL diagnosis; MAGNETIC resonance imaging; SYNDROMES; DIAGNOSIS
- Publication
Skeletal Radiology, 2008, Vol 37, Issue 11, p1053
- ISSN
0364-2348
- Publication type
journal article
- DOI
10.1007/s00256-008-0559-8