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

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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.

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Authors and Affiliations

  1. Department of Radiological Sciences, University of Messina, Policlinico “G. Martino” Via Consolare Valeria 1, 98100, Messina, Italy

    Michele Gaeta, Fabio Minutoli, Antonio Celona, Sergio Racchiusa & Silvio Mazziotti

  2. Department of Neurosciences, Psychiatry and Anaesthesiology, University of Messina, Policlinico “G. Martino” Via Consolare Valeria 1, 98100, Messina, Italy

    Antonio Toscano & Olimpia Musumeci

  3. Dipartimento di Scienze Radiologiche, A.O.U. “Policlinico G. Martino”, Via Consolare Valeria, 98100, Messina, Italy

    Fabio Minutoli

Authors
  1. Michele Gaeta
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  2. Fabio Minutoli
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  3. Antonio Toscano
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  4. Antonio Celona
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  5. Olimpia Musumeci
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  6. Sergio Racchiusa
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  7. Silvio Mazziotti
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Correspondence to Fabio Minutoli.

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Gaeta, M., Minutoli, F., Toscano, A. et al. Opposed-phase MR imaging of lipid storage myopathy in a case of Chanarin–Dorfman disease. Skeletal Radiol 37, 1053–1057 (2008). https://doi.org/10.1007/s00256-008-0559-8

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  • DOI: https://doi.org/10.1007/s00256-008-0559-8

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