title: Metachromatic leukodystrophy. Diffusion MR imaging and proton MR spectroscopy.
abstract: Metachromatic leukodystrophy is characterized by dysmyelination caused by a deficiency of arylsulfatase-A. In a 17-month-old boy with metachromatic leukodystrophy, an echo-planar diffusion MR sequence revealed a restricted diffusion pattern in the deep white matter, manifested by high-signal on b=1000 s/mm2 images, and low ADC values (0.56 x 10(-3) mm2/s). Proton MR spectroscopy revealed a marked decrease in choline, a metabolite related to myelin turnover. These observations consisting of a restricted diffusion pattern on diffusion MR imaging, and decreased choline peaks on proton spectroscopy, likely represented dysmyelination in metachromatic leukodystrophy.
authors.affiliation: Department of Radiology, Ege University Hospital, Bornova, Izmir, Turkey. rnsener@med.ege.edu.tr
authors.forename: R N
authors.initials: RN
authors.lastname: Sener
mesh_terms: D001921:Brain / Q000473:pathology*; D001923:Brain Chemistry; D038524:Diffusion Magnetic Resonance Imaging; D017352:Echo-Planar Imaging; D006801:Humans; D007223:Infant; D007966:Leukodystrophy, Metachromatic / Q000175:diagnosis*; D009682:Magnetic Resonance Spectroscopy; D008297:Male