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

Skeletal Radiol. 2008 Nov;37(11):1053-7. doi: 10.1007/s00256-008-0559-8. Epub 2008 Aug 6.

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.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Consanguinity
  • Diagnosis, Differential
  • Female
  • Humans
  • Ichthyosiform Erythroderma, Congenital / diagnosis
  • Lipidoses / diagnosis*
  • Magnetic Resonance Imaging / methods*
  • Muscular Diseases / diagnosis*
  • Syndrome