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Metachromatic Leukodystrophy

Diffusion MR imaging and proton MR spectroscopy


R. Nuri Sener, Department of Radiology, Ege University Hospital, Bornova, Izmir, Turkey.
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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 × 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.