title: Emery-Dreiffus muscular dystrophy: MR imaging and spectroscopy in the brain and skeletal muscle.
abstract: Emery-Dreifuss muscular dystrophy is a rare disorder characterized by childhood onset of contractures, humeroperoneal muscle atrophy, and cardiac conduction abnormalities. This report presents the cases of two brothers with this dystrophy in whom bilateral hypomyelination of the deep periatrial white matter was noted. In the hypomyelinated regions, a prominent peak centered at 1.5 parts per million was present on short-TE MR spectra likely representing prominence of proteolipids in the macromolecular region. Major peaks (N-acetyl-aspartate, creatine, choline, and myoinositol) were normal. With respect to muscle changes, atrophy of the medial head of the gastrocnemius muscle was noted at MR imaging, and phosphorus spectroscopy of this muscle revealed decreased phosphocreatine and inorganic phosphate peaks.
authors.affiliation: Diagnostic Imaging Department, Institute of Oncology, Sremska Kamenica, Serbia and Montenegro.
authors.forename: Robert
authors.initials: R
authors.lastname: Semnic
authors.forename: Goran
authors.initials: G
authors.lastname: Vucurevic
authors.forename: Dusko
authors.initials: D
authors.lastname: Kozic
authors.forename: Katarina
authors.initials: K
authors.lastname: Koprivsek
authors.forename: Jelena
authors.initials: J
authors.lastname: Ostojic
authors.forename: Rifat Nuri
authors.initials: RN
authors.lastname: Sener
mesh_terms: D000293:Adolescent; D001921:Brain / Q000378:metabolism / Q000473:pathology*; D002648:Child; D006801:Humans; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology*; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000175:diagnosis* / Q000378:metabolism; D010710:Phosphates / Q000378:metabolism; D010725:Phosphocreatine / Q000378:metabolism; D011510:Proteolipids / Q000378:metabolism
chemical_list: D010710:Phosphates; D011510:Proteolipids; D010725:Phosphocreatine