Metachromatic Leukodystrophy
- Autosomal recessive, most common hereditary leukodystrophy (1:100,000), 80% of cases are of the late infantile type.
- Caused by deficiency of arylsufatase A leading to accumulation of galatosylceramide sulfatide that leads to demyelination.
- Typical MR features: symmetric high T2 with sparing of subcortical U-fibers, confluent in centrum semiovale, restricted diffusion in these zones, radial stripes (low T2) in lesions due to relative myelin sparing (also seen in other lysosomal disorders), cerebellar white matter involvement
