Alobar Holoprosencephaly with Severe Craniofacial Anomalies and Congenital Diaphragmatic Hernia: First Reported Case...

Alobar holoprosencephaly (HPE) is a severe malformation where the embryonic forebrain fails to divide, characterized by profound midline facial defects and high mortality. We report a case of a term neonate born to a grand multigravida mother from a rural area with no prior antenatal screening. At birth, the neonate presented with severe midline craniofacial anomalies, including arrhinia and anophthalmia. Transcranial ultrasonography demonstrated findings highly suggestive of alobar HPE, including a single monoventricle and absence of key midline structures, while additional findings included a congenital diaphragmatic hernia and an Acyanotic perimembranous ventricular septal defect. Due to the severity of these multisystem malformations, the patient was managed with supportive care and succumbed to multisystem failure on the third day of life. Alobar holoprosencephaly has an extremely poor prognosis, with most affected neonates not surviving long after birth; therefore, management focuses on supportive care, such as respiratory stabilization, feeding, and comfort. This case highlights the crucial role of early prenatal screening, detailed ultrasound, and genetic counseling especially in resource-limited settings to allow for timely diagnosis, informed parental counseling, and better planning for neonatal care.