title: Opposed-phase MR imaging of lipid storage myopathy in a case of Chanarin-Dorfman disease.
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.
authors.affiliation: Department of Radiological Sciences, University of Messina, Policlinico G. Martino, Via Consolare Valeria 1, 98100, Messina, Italy.
authors.forename: Michele
authors.initials: M
authors.lastname: Gaeta
authors.forename: Fabio
authors.initials: F
authors.lastname: Minutoli
authors.forename: Antonio
authors.initials: A
authors.lastname: Toscano
authors.forename: Antonio
authors.initials: A
authors.lastname: Celona
authors.forename: Olimpia
authors.initials: O
authors.lastname: Musumeci
authors.forename: Sergio
authors.initials: S
authors.lastname: Racchiusa
authors.forename: Silvio
authors.initials: S
authors.lastname: Mazziotti
mesh_terms: D000368:Aged; D003241:Consanguinity; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000175:diagnosis; D008064:Lipidoses / Q000175:diagnosis*; D008279:Magnetic Resonance Imaging / Q000379:methods*; D009135:Muscular Diseases / Q000175:diagnosis*; D013577:Syndrome