Chafiq Kamal, Toumi Khalil, Khayi Fatima Ezzahra, Daoudi Abdellatif
Neonatology, Souss Massa University Hospital Center, Agadir, MAR.
Cureus. 2024 Nov 25;16(11):e74462. doi: 10.7759/cureus.74462. eCollection 2024 Nov.
Holoprosencephaly (HPE) is a severe and complex congenital brain malformation caused by a defect in the midline cleavage of the prosencephalon during early embryonic development. It is the most common prosencephalic malformation in humans and is categorized into three classical forms based on the severity of this cleavage defect: alobar, semilobar, and lobar HPE. A milder interhemispheric variant, called syntelencephaly, is also considered a form of HPE. This condition may arise from genetic, environmental, or teratogenic factors. Patients with HPE often present with facial dysmorphia, with severity generally correlating with the extent of brain malformation. HPE is diagnosed prenatally through ultrasound and brain magnetic resonance imaging (MRI). Through this case report and a review of the literature, we discuss the etiopathogenic and diagnostic aspects of HPE, along with the management of this congenital malformation, illustrated by the antenatal diagnosis of a newborn with alobar HPE, confirmed by brain MRI at 32 days of age.
前脑无裂畸形（HPE）是一种严重且复杂的先天性脑畸形，由胚胎早期发育过程中前脑中线分裂缺陷引起。它是人类最常见的前脑畸形，根据这种分裂缺陷的严重程度可分为三种典型形式：无脑叶型、半脑叶型和脑叶型HPE。一种较轻的半球间变异型，称为融合性全前脑，也被认为是HPE的一种形式。这种情况可能由遗传、环境或致畸因素引起。HPE患者常伴有面部畸形，严重程度通常与脑畸形程度相关。HPE通过超声和脑磁共振成像（MRI）进行产前诊断。通过本病例报告和文献复习，我们讨论了HPE的病因和诊断方面，以及这种先天性畸形的处理，以一名无脑叶型HPE新生儿的产前诊断为例，该诊断在出生32天时经脑MRI证实。
