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

Michele Gaeta, Fabio Minutoli, Antonio Toscano, Antonio Celona, Olimpia Musumeci, Sergio Racchiusa, Silvio Mazziotti

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)1053-1057
Number of pages5
JournalSkeletal Radiology
Volume37
Issue number11
DOIs
Publication statusPublished - Nov 2008

Keywords

  • Chanarin-Dorfman disease
  • Chemical shift imaging
  • Lipid storage myopathies
  • MR imaging

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging

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