Canavan disease

Case contributed by Sepehr Haghighi


Hypotonia and lethargy in a patient with macrocephaly

Patient Data

Age: 1 year
Gender: Male

Extensive T2W white matter hyperintensity involving periventricular, deep and subcortical U- fibers, bilateral Globus pallidi and thalami is notable in a child with macrocephaly.

Restricted areas at both frontal lobes white matter is seen.

These findings could be highly suggestive for Canavan Disease. 

Brain MRS was not performed for this patient.

Case Discussion

Canavan disease is a rare leukodystrophy, in which the child has severe intellectual disability and blindness, in which death during early childhood is characteristic1.

In MR spectroscopy,  markedly elevated NAA and NAA:creatine ratio is seen which is pathognomonic for the condition2

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