Metachromatic leukodystrophy (MLD) is a dysmyelinating autosomal recessive lysosomal storage disease. Conventional T2WI may not show the disease involvement accurately, especially in early phases of the disease where a bone marrow transplant can be a treatment option. Therefore we used Myelin Water Fraction (MWF) and Diffusion Tensor Imaging to investigate WM in patients with MLD. MWF and metrics derived from DTI, especially fractional anisotropy (FA), showed diffuse abnormality in WM and were significantly correlated. These imaging techniques can better assess involvement of the cerebral WM in patients with MLD.
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