Abstract

Canavan disease, is an autosomal recessive disorder caused by decreased function of the enzyme aspartoacylase due to genetic mutations. The highest prevalence is among Ashkenazi jewish. The clinical symptoms include macrocephaly, hypotonia, develop- mental delay, seizures, optic atrophy and dystonia. A patient with psychomotor deve- lopmental delay, hypotonia and macrocephaly, who was diagnosed as Canavan disea- se after the investigations is presented to highlight the neurodegenerative diseases in the differential diagnosis of early childhood macrocephaly.