Author/Authors :
İncecik, Faruk Çukurova Üniversitesi - Tıp Fakültesi - Pediatrik Nöroloji Bilim Dalı, Turkey , Sızmaz, Efsun Gargun Çukurova Üniversitesi - Tıp Fakültesi - Pediatrik Nöroloji Bilim Dalı, Turkey , Hergüner, M. Özlem Çukurova Üniversitesi - Tıp Fakültesi - Pediatrik Nöroloji Bilim Dalı, Turkey , Altunbaşak, Şakir Çukurova Üniversitesi - Tıp Fakültesi - Pediatrik Nöroloji Bilim Dalı, Turkey
Title Of Article :
Canavan Disease: Three Cases 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.
NaturalLanguageKeyword :
Canavan disease , macrocephaly , developmental delay
JournalTitle :
Cukurova Medical Journal
