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

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.
AuthorsMichele Gaeta, Fabio Minutoli, Antonio Toscano, Antonio Celona, Olimpia Musumeci, Sergio Racchiusa, Silvio Mazziotti
JournalSkeletal radiology (Skeletal Radiol) Vol. 37 Issue 11 Pg. 1053-7 (Nov 2008) ISSN: 0364-2348 [Print] Germany
PMID18682927 (Publication Type: Case Reports, Journal Article)
Topics
  • Aged
  • Consanguinity
  • Diagnosis, Differential
  • Female
  • Humans
  • Ichthyosiform Erythroderma, Congenital (diagnosis)
  • Lipidoses (diagnosis)
  • Magnetic Resonance Imaging (methods)
  • Muscular Diseases (diagnosis)
  • Syndrome

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