TY  - JOUR
T1  - Canavan Hastalığı: 3 Olgu Sunumu
TT  - Canavan Disease: Three case report
AU  - İncecik, Faruk
AU  - Sızmaz, Efsun Gargun
AU  - Hergüner, M. Özlem
AU  - Altunbaşak, Şakir
PY  - 2013
DA  - September
JF  - Cukurova Medical Journal
JO  - Cukurova Med J
PB  - Cukurova University
WT  - DergiPark
SN  - 2602-3032
SP  - 495
EP  - 498
VL  - 38
IS  - 3
LA  - tr
AB  - 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.
KW  - Canavan hastalığı
KW  - makrosefali
KW  - gelişme geriliği
N2  - 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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CR  - 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
UR  - https://dergipark.org.tr/en/pub/cumj/issue//55282
L1  - https://dergipark.org.tr/en/download/article-file/47276
ER  -