Presentation
Global developmental delay and macrocephaly.
Patient Data
Age: 2 years
Gender: Male
From the case:
Canavan disease
{"current_user":null,"step_through_annotations":true,"access":{"can_edit":false,"can_download":true,"can_toggle_annotations":true,"can_feature":false,"can_examine_pipeline_reports":false,"can_pin":false},"extraPropsURL":"/studies/19707/annotated_viewer_json?lang=us"}
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:
- 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
Unable to process the form. Check for errors and try again.