Abstract
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.