Opposed-phase MR imaging of lipid storage myopathy in a case of Chanarin-Dorfman disease.
case_report · Level V
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- Record sourced from PubMed, PMID 18682927.
- Also identified by DOI 10.1007/s00256-008-0559-8.
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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.
Medical subject headings
- Lipidoses
- Magnetic Resonance Imaging
- Muscular Diseases