Taifour Wessam, Ranjous Yahia, Khoury Milad, Alshammy Haya, Abbassi Haitham
Faculty of Medicine, Damascus University, Damascus, Syria.
Obstetrics and Gynecology Hospital, Damascus University, Damascus, Syria.
Int Med Case Rep J. 2025 Jul 18;18:893-898. doi: 10.2147/IMCRJ.S533051. eCollection 2025.
Alobar holoprosencephaly is the most severe and common subtype of holoprosencephaly (HPE), a developmental defect that arises during the embryonic period due to heterogeneous factors. This condition is characterized by incomplete development and separation of the forebrain, often accompanied by facial deformities, especially in severe cases. Most severe cases result in stillbirth or neonatal death shortly after delivery. We report a case of a 28-year-old multiparous woman who presented with preterm labor and preterm premature rupture of membranes (PPROM). Ultrasound imaging revealed fetal malformations consistent with alobar HPE, including cyclopia syndrome. The patient delivered a stillborn infant vaginally in an unusual neck presentation. We discuss the etiology of HPE, including potential contributing factors such as toxoplasmosis in our case, along with diagnostic and management considerations. Additionally, we highlight the special presented part of the infant during vaginal delivery and its possible reasons. Early prenatal diagnosis of cyclopia syndrome is crucial, as it significantly impacts family counseling regarding pregnancy continuation. It also underscores the need for additional genetic and serological viral tests to investigate potential underlying causes.
无脑叶全前脑畸形是全前脑畸形（HPE）最严重且最常见的亚型，HPE是一种在胚胎期因多种因素引发的发育缺陷。这种病症的特征是前脑发育不完全且未分离，常伴有面部畸形，严重病例尤甚。多数严重病例会导致死产或出生后不久的新生儿死亡。我们报告一例28岁经产妇，其出现早产和胎膜早破（PPROM）。超声成像显示胎儿畸形符合无脑叶全前脑畸形，包括独眼畸形综合征。该患者经阴道分娩出一名死产婴儿，呈现异常的颈部胎位。我们讨论了全前脑畸形的病因，包括我们病例中如弓形虫病等潜在促成因素，以及诊断和管理方面的考量。此外，我们强调了婴儿在阴道分娩时特殊的胎位及其可能原因。独眼畸形综合征的早期产前诊断至关重要，因为它对关于继续妊娠的家庭咨询有重大影响。这也凸显了进行额外基因和血清学病毒检测以探究潜在根本原因的必要性。
