Canavan disease - unusual imaging features in a child with mild clinical presentation.

[canavan disease]

Canavan disease is a rare hereditary leukodystrophy that manifests in early childhood . Associated with rapidly progressive clinical deterioration , it usually results in death by the third year of life . The predominant MRI appearance is diffuse and symmetrical white matter disease . We discuss an atypical , late presentation of Canavan disease with a benign clinical course and uncharacteristic imaging features . This case introduces a previously unreported pattern of diffuse cortical abnormality without significant white matter involvement .