Canavan disease
Case contributed by:
Dr Prashant Gupta
Presentation:
Global developmental delay and macrocephaly
Patient Data:
Age: 2y
Gender: Male
Race: Indian/Pakistani
From the case:
Canavan disease
Modality:
MRI
Case Discussion:
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)
References:
- 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
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