ACR Index: 1.6
Canavan disease, also known as spongiform leukodystrophy, typically presentats at 3-6 months of age, ise autosomal recessive, more common in Ashkenazi Jews.
Symptoms and signs include: hypotonia, macrocephaly, seizures, failure to attain motor milestones, spasticity, optic atrophy, death during second year.
Imaging features include: diffuse symmetric abnormal white matter, hypodense on CT, both T1 and T2 prolongation on MRI, atrophy will develop.
DDx for early MACROCEPHALY: Alexander disease, hydrocephalus, congenital brain neoplasm
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