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.
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Kaynakça
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- Yazışma Adresi / Address for Correspondence: Dr. Faruk İncecik Çukurova Üniversitesi Tıp Fakültesi, Çocuk Nöroloji Bilim Dalı 01330 Balcalı-ADANA e-mail: fincecik@yahoo.com geliş tarihi/received :06.11.2012 kabul tarihi/accepted:26.12.2012
