Canavan disease
This case demonstrates the typical clinical and imaging profile of Canavan's disease.
Note extensive T2 white matter hyperintensity involving the subarcuate U fibers, posterior fossa, internal capsule and cerebellar white matter.
MRS reveals a grossly raised NAA peak, this has been described only in cases of Canavan's disease and is fairly specific.
Differential possibilities include:
- Pelizaeus Merzbacher disease: associated with cerebellar atrophy, tigroid pattern of hyperintensity, spares U fibers
- adrenoleukodystrophy and metachromatic leukodystrophy: spare U fibers, characteristic distribution
- Alexanders disease: anterior dominance, diffuse late in disease course, normal NAA on MRS
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