Szabó Nóra, Gyurgyinka Gergev, Kóbor Jeno, Bereg Edit, Túri Sándor, Sztriha László
Department of Paediatrics, University of Szeged, Szeged, Hungary.
J Child Neurol. 2010 Nov;25(11):1335-9. doi: 10.1177/0883073810364854. Epub 2010 Mar 31.
The epidemiology and clinical spectrum of schizencephaly in south-eastern Hungary have been surveyed in a retrospective population-based study. A total of 10 patients (6 boys and 4 girls) were found with schizencephaly among 185 486 live births in a period of 14 years (July 1, 1992 to June 30, 2006), which means a birth prevalence of 0.54 per 10 000 (95% confidence interval [CI]: 0.20-0.87). The schizencephaly was unilateral in 7 cases (with closed lips in 5 and open lips in 2 patients) and bilateral in 3 children (with closed lips in 2 and open lips in 1). The septum pellucidum was absent in 5 cases; however, optic nerve hypoplasia was not found in these patients. Delayed development and intellectual disability were observed in all patients, except 2 with unilateral closed lip schizencephaly. Epilepsy was diagnosed in 3 patients (2 with unilateral and 1 with bilateral schizencephaly).
在匈牙利东南部进行的一项基于人群的回顾性研究中，对脑裂畸形的流行病学和临床谱进行了调查。在14年期间（1992年7月1日至2006年6月30日）的185486例活产中，共发现10例脑裂畸形患者（6名男孩和4名女孩），这意味着每10000例活产中的发病率为0.54（95%置信区间[CI]：0.20 - 0.87）。脑裂畸形单侧7例（5例唇闭合，2例唇开放），双侧3例（2例唇闭合，1例唇开放）。5例透明隔缺如；然而，这些患者未发现视神经发育不全。除2例单侧唇闭合性脑裂畸形患者外，所有患者均观察到发育迟缓及智力残疾。3例患者诊断为癫痫（2例单侧，1例双侧脑裂畸形）。
