Canavan Disease: Three case report

oleh: Faruk Incecik, Efsun Gargun Sizmaz, M. Ozlem Herguner, Sakir Altunbasak

Format: Article
Diterbitkan: Cukurova University 2013-06-01

Deskripsi

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]