Canavan Disease: Three case report

Yıl 2013, Cilt: 38 Sayı: 3, 495 - 498, 01.09.2013

Faruk İncecik Efsun Gargun Sızmaz M. Özlem Hergüner Şakir Altunbaşak

Öz

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.

Anahtar Kelimeler

Canavan disease, macrocephaly, developmental delay

Canavan Hastalığı: 3 Olgu Sunumu

Öz

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

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: [e-mail] geliş tarihi/received :06.11.2012 kabul tarihi/accepted:26.12.2012