Canavan disease

Case contributed by Ayman Elmesalamy
Diagnosis probable

Presentation

Delayed growth and fits in an infant.

Patient Data

Age: 15 month
Gender: Male
mri
This study is a stack
Axial
T1
This study is a stack
Axial
T2
This study is a stack
Axial
FLAIR
This study is a stack
Coronal
T2
This study is a stack
Axial
DWI
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Info

Bilateral white matter abnormal signal involving the subcortical U fibers.

Incidental cavum vergae.

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 characteristic.

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