American Journal of Neuroradiology 25:1840-1842, November-December 2004
© 2004 American Society of Neuroradiology
Case Report
PEDIATRICS
Emery-Dreiffus Muscular Dystrophy: MR Imaging and Spectroscopy in the Brain and Skeletal Muscle
a Diagnostic Imaging Department, Institute of Oncology, Sremska Kamenica, Serbia and Montenegro, Maintz, Germany
b Department of Neuroradiology, University of Maintz, Maintz, Germany
c Department of Radiology, Ege University Hospital, Bornova, Izmir, Turkey
Address correspondence to R. Nuri Sener, MD, Department of Radiology, Ege University Hospital, Bornova, Izmir, 35100, Turkey
Summary: 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.