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 "early childhood" symptom

22q11.2 deletion syndrome

achondroplasia

alpha-thalassemia

aniridia

aromatase deficiency

benign recurrent intrahepatic cholestasis

canavan disease

congenital adrenal hyperplasia

congenital diaphragmatic hernia

cystinuria

erythropoietic protoporphyria

fabry disease

gm1 gangliosidosis

junctional epidermolysis bullosa

kabuki syndrome

kindler syndrome

papillon-lefèvre syndrome

proteus syndrome

pyruvate dehydrogenase deficiency

triple a syndrome

werner syndrome

You can validate or delete this automatically detected symptom