Faruk İNCECİK, Efsun Gargun SIZMAZ, M. Özlem HERGÜNER, Şakir ALTUNBAŞAK

Canavan Hastalığı: 3 Olgu Sunumu

Canavan hastalığı, aspartoaçilaz enziminin yetersiz fonksiyon göstermesine bağlı olarak gelişen otozomal resesif bir hastalıktır. Makrosefali, hipotoni, gelişme geriliği, nöbetler, optik atrofi ve distoni gibi klinik bulgular eşlik edebilmektedir. Psikomotor gelişme geriliği, hipotoni ve makrosefalisi olan, yapılan tetkikleri sonucunda Canavan hastalığı tanısı alan 3 hastayı sunduk.

Anahtar Kelimeler:

Canavan hastalığı, makrosefali, gelişme geriliği

Canavan Disease: Three case report

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.

Keywords:

Canavan disease, macrocephaly, developmental delay,

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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