Diffusion-weighted imaging findings in juvenile metachromatic leukodystrophy

Magnetic resonance (MR) imaging has an important role in the diagnosis of metachromatic leukodystrophy (MLD). We report diffusion-weighted MR imaging (DWI) findings of four cases of juvenile type MLD. DWI showed restricted diffusion lines with greater areas of increased diffusion in three patients and widespread increased diffusion in one patient. This variability in DWI findings can be related to the histological stage of the disease at the time of imaging, ranging from intracellular metachromatic material accumulation to breakdown of myelin membranes.