Canavan disease

Case contributed by Sandra El Helou
Diagnosis certain

Presentation

Macrocephaly and seizures

Patient Data

Age: 7 years
Gender: Female
mri
Axial
T2
Axial
T2
Axial
T2
Axial
T1
Axial
T1
Axial
MRS
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Info

Diffuse T2 hyperintensity at the subcortical U fibers, the bilateral thalami, and the cerebellar peduncles, with sparing of the corpus callosum, caudate nucleus, putamen and internal capsule.

Corresponding T1 hypointensity involving the subcortical U fibers and bilateral thalami.

MRS shows elevated NAA peak.

Case Discussion

This case depicts the typical imaging characteristics of Canavan disease.

Note the diffuse T2 hyperintensity involving the white matter at the subcortical U fibers, the bilateral thalami and cerebellar peduncles with corresponding T1 hypointensity.

MRS reveals elevated NAA peak typical for Canavan disease.

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