Khan Iraj Alam, Firdaus Uzma, Ali Syed Manazir, Asghar Imran
Department of Pediatrics, J.N. Medical College, AMU, Aligarh, Uttar Pradesh, India.
J Pediatr Neurosci. 2016 Jul-Sep;11(3):228-229. doi: 10.4103/1817-1745.193360.
Neural tube defects are a group of congenital anomalies of brain development that carry a significant risk of morbidity and mortality. Anencephaly is a serious form of this defect with a very poor prognosis. It can present in three forms - meroanencephaly, holoanencephaly, and craniorachischisis. Meroanencephaly is considered to be the classic form of anencephaly. It manifests as a lack of cranial vault bones and exposed dorsal neural tissue resulting from defective neural tube closure in the very early period of gestation. Antenatally, the diagnosis may be suggested by ultrasound examination and by elevated maternal alpha-fetoprotein level. Here, we describe a case of meroanencephaly who was discharged from the hospital in fair condition despite the life-threatening anomaly.
神经管缺陷是一组脑发育的先天性异常，具有很高的发病和死亡风险。无脑畸形是这种缺陷的一种严重形式，预后很差。它可表现为三种形式——部分无脑畸形、完全无脑畸形和颅脊柱裂。部分无脑畸形被认为是无脑畸形的典型形式。它表现为颅顶骨缺失，由于妊娠早期神经管闭合缺陷导致背侧神经组织暴露。在产前，超声检查和孕妇甲胎蛋白水平升高可能提示诊断。在此，我们描述一例部分无脑畸形病例，尽管存在危及生命的异常情况，但该患者出院时情况尚可。
