Mohamed Mariam E, Ahmed Shymaa R, Elsayed Ahmed Elsayed M, Ibrahim Eman H
Clinical Sciences, College of Medicine, Gulf Medical University, Ajman, ARE.
Radiology, Thumbay Hospital, Fujairah, ARE.
Cureus. 2024 Oct 4;16(10):e70843. doi: 10.7759/cureus.70843. eCollection 2024 Oct.
Holoprosencephaly (HPE) is a developmental defect that affects the brain structure due to failure or incomplete division of the prosencephalon at the third week to the fourth week of gestation into cerebral hemispheres. Although the exact cause of HPE remains unclear, it is suspected to result from a combination of genetic and environmental factors. We report a case of alobar HPE. This case was diagnosed on antenatal ultrasonography in a 42-year-old female (Gravida 3, Para 2) with an unremarkable family history and absence of any risk factors. The association of alobar HPE with an atrioventricular canal defect, left-sided clubfoot, and omphalocele, in this case, constitutes a rare fetal morphological presentation. This case highlights the crucial role of regular antenatal ultrasound scans in the early detection of fatal anomalies like alobar HPE.
前脑无裂畸形(HPE)是一种发育缺陷,由于在妊娠第三周和第四周时前脑未能或未完全分裂成脑半球而影响脑结构。虽然HPE的确切病因尚不清楚,但怀疑是遗传和环境因素共同作用的结果。我们报告一例叶状全前脑畸形病例。该病例是在一名42岁女性(孕3产2)的产前超声检查中诊断出来的,其家族史无异常且不存在任何风险因素。在该病例中,叶状全前脑畸形与房室管缺损、左侧马蹄内翻足和脐膨出相关,构成了一种罕见的胎儿形态表现。该病例凸显了定期产前超声扫描在早期发现像叶状全前脑畸形这样的致命异常中的关键作用。