Metachromatic leukodystrophy (MLD) is a set of several disorders caused by deficient lysosomal activity. This deficiency results in accumulation of a metachromatic lipid material, galactosylceramide sulfatide, leading to the breakdown of the myelin sheath in both central and peripheral nervous systems, initially sparing the subcortical “U” fibers.1,2 Several MR imaging features of MLD have been described, but to the best of our knowledge, cranial nerve involvement demonstrated by MR imaging was never mentioned in this setting.
展开▼