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Keywords:

  • Metachromatic leukodystrophy;
  • diffusion MR imaging;
  • 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 × 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.