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 .

Diseases
Validation

Diseases presenting "leukodystrophy" symptom

achondroplasia

adrenomyeloneuropathy

alexander disease

cadasil

canavan disease

carcinoma of the gallbladder

classical phenylketonuria

coats disease

fabry disease

gm1 gangliosidosis

krabbe disease

neonatal adrenoleukodystrophy

phenylketonuria

pyruvate dehydrogenase deficiency

wiskott-aldrich syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

This symptom has already been validated