Presentation
A 1-year-old infant presented with a large head, nystagmus, and tonic movement.
Patient Data
MRI and MRS of the brain showing diffuse white matter signal abnormalities displaying hypo-intense signals on T1 and hyperintense on the T2 images, involving both cerebral, cerebellar hemispheres, brainstem, globi pallidi and thalami involvement, with sub-cortical U-fibers involvement.
Single voxel MRS at the region of the right frontal centrum semiovale shows markedly elevation of the NAA peak and increased NAA/Cr ratio (7.75). These findings are typical features of Canavan disease.
Normal signal intensity is present within the caudate and putamina.
Case Discussion
Macrocephaly with diffuse increase white matter T2 signal, involvement of the subcortical U fibers and markedly elevated (NAA) on MRS, these findings are highly suggestive of Canavan disease.
Globi pallidi and tThalamic involvement late in the disease progression), sparing the putamen and caudate nuclei.
Late in the disease there is global white matter and cortical atrophy.
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