Katwal Shailendra, Bhusal Amrit, Bhandari Sushmita, Kandel Kamal, Yogi Tek Nath
Department of Radiology, Dadeldhura Subregional Hospital, Dadeldhura, Nepal.
Department of Radio-diagnostics and Imaging, BP Koirala Institute of Health Sciences (BPKIHS), Dharan, Sunsari, Nepal.
Radiol Case Rep. 2024 Nov 29;20(2):1105-1108. doi: 10.1016/j.radcr.2024.10.147. eCollection 2025 Feb.
This case report discusses a compelling case involving acrania, exencephaly, and spinal myeloschisis in a 22-year-old pregnant woman from rural Nepal. The delayed diagnosis due to limited healthcare access underscores the importance of early prenatal care and screening. The case sheds light on the complexity of congenital anomalies and their implications. Acrania with exencephaly is a severe cranial neural tube defect that results from the failure of neural tube closure during embryogenesis. Exencephaly on the other hand is the absence of the cranial vault with exposed brain tissue. The study emphasizes the significance of maternal nutrition, folic acid supplementation, and genetic risk assessment in preventing such conditions. This report contributes to raising awareness and improving management strategies for intricate congenital abnormalities, ultimately enhancing maternal and fetal well-being.
本病例报告讨论了一名来自尼泊尔农村的22岁孕妇患有无脑儿、露脑畸形和脊髓脊膜膨出的引人关注的病例。由于医疗保健机会有限导致的诊断延迟凸显了早期产前护理和筛查的重要性。该病例揭示了先天性异常的复杂性及其影响。无脑儿合并露脑畸形是一种严重的颅神经管缺陷，由胚胎发育过程中神经管闭合失败引起。另一方面，露脑畸形是指颅顶缺失，脑组织外露。该研究强调了孕产妇营养、补充叶酸和遗传风险评估在预防此类病症中的重要性。本报告有助于提高对复杂先天性异常的认识并改进管理策略，最终增进母婴健康。
