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 | Michele Gaeta, Fabio Minutoli, Antonio Toscano, Antonio Celona, Olimpia Musumeci, Sergio Racchiusa, Silvio Mazziotti |
Journal | Skeletal radiology
(Skeletal Radiol)
Vol. 37
Issue 11
Pg. 1053-7
(Nov 2008)
ISSN: 0364-2348 [Print] Germany |
PMID | 18682927
(Publication Type: Case Reports, Journal Article)
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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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