Case of the Week
Section Editors: Matylda Machnowska1 and Anvita Pauranik2
1University of Toronto, Toronto, Ontario, Canada
2BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada
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February 16, 2009
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
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