Canavan Disease: Three case report

Abstract

Canavan disease, is an autosomal recessive disorder caused by decreased function of the enzyme aspartoacylase. The clinical symptoms include macrocephaly, hypotonia, developmental delay, seizures, optic atrophy and dystonia. We reported three patients with psychomotor developmental delay, hypotonia and macrocephaly, who was diagnosed as Canavan disease after the investigations. [Cukurova Med J 2013; 38(3.000): 495-498]

Keywords

• Canavan disease
• macrocephaly
• developmental delay