Canavan disease

Case contributed by Dr Prashant Gupta

Presentation

Global developmental delay and macrocephaly

Patient Data

Age: 2 years
Gender: Male
Modality: MRI

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.

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: 

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Case Information

rID: 19670
Case created: 3rd Oct 2012
Last edited: 10th Dec 2016
Inclusion in quiz mode: Included

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