Department of Pediatrics, Faculty of Medicine, University of Szeged, Szeged, Hungary.
Pediatr Neurol. 2011 Jun;44(6):420-6. doi: 10.1016/j.pediatrneurol.2011.01.002.
Data regarding the epidemiology of callosal anomalies are contradictory. We performed a population-based retrospective survey to study the birth prevalence and clinical features of agenesis/hypoplasia of the corpus callosum and accompanying central nervous system and somatic abnormalities in southeastern Hungary between July 1, 1992 and June 30, 2006. Among 185,486 live births, 38 patients (26 boys and 12 girls) manifested agenesis/hypoplasia of the corpus callosum, corresponding to a prevalence of 2.05 per 10,000 live births (95% confidence interval, 1.4-2.7). Callosal anomalies were isolated in 18 patients, and were associated with other central nervous system malformations in five children. Both central nervous system and noncentral nervous system abnormalities were evident in seven patients, whereas callosal dysgenesis was accompanied only by somatic anomalies in eight children. Five of 18 patients with isolated agenesis/hypoplasia of the corpus callosum remained asymptomatic. Developmental delay, intellectual disability, or epilepsy occurred in all patients, except one, when callosal anomalies were combined with other brain or somatic abnormalities. Five patients with multiplex malformations died. Callosal anomalies form a clinically significant and relatively frequent group of central nervous system malformations.
胼胝体发育不全/发育不良的流行病学数据存在矛盾。我们进行了一项基于人群的回顾性调查，以研究在 1992 年 7 月 1 日至 2006 年 6 月 30 日期间，匈牙利东南部胼胝体发育不全/发育不良的出生率和临床特征，以及胼胝体发育不全/发育不良伴发的中枢神经系统和躯体异常。在 185486 例活产儿中，有 38 例患者（26 名男孩和 12 名女孩）表现为胼胝体发育不全/发育不良，发病率为 2.05/10000 活产儿（95%置信区间，1.4-2.7）。胼胝体异常孤立存在于 18 例患者中，与 5 例儿童的其他中枢神经系统畸形相关。胼胝体发育不良伴发其他中枢神经系统和非中枢神经系统异常存在于 7 例患者中，而仅伴发躯体异常存在于 8 例儿童中。18 例孤立性胼胝体发育不全/发育不良患者中，有 5 例无症状。除 1 例患者外，当胼胝体异常与其他脑或躯体异常并存时，所有患者均出现发育迟缓、智力残疾或癫痫。5 例多发性畸形患者死亡。胼胝体异常是一组具有重要临床意义且相对常见的中枢神经系统畸形。
