Global developmental delay and macrocephaly
Loading more images...
Please Note: You can also scroll through stacks with your mouse wheel or the keyboard arrow keys
Loading Stack -
0 images remaining
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)
- Michel SJ, Given CA. Case 99: Canavan disease. Radiology. 2006;241 (1): 310-4. doi:10.1148/radiol.2411040165 - Pubmed citation
- Cheon JE, Kim IO, Hwang YS et-al. Leukodystrophy in children: a pictorial review of MR imaging features. Radiographics. 22 (3): 461-76. Radiographics (citation) - Pubmed citation