Semilobar holoprosencephaly associated with maternal diabetes in a toddler: A case report

Holoprosencephaly is a rare congenital malformation of the forebrain caused by incomplete division of the prosencephalon during early embryonic development, and semilobar holoprosencephaly represents the intermediate form of the spectrum. We report the case of a 3-year-old child presenting with developmental delay, seizures, feeding difficulties, and midline facial abnormalities. The child was born to a mother with poorly controlled maternal diabetes mellitus. The MRI scan of the brain showed partial fusion of the frontal lobes, incomplete separation of the hemispheres of the cerebrum, presence of a single ventricular cavity, partial fusion of the thalami, and lack of the septum pellucidum. These clinical signs suggested semilobar holoprosencephaly. This case underlines the importance of neuroimaging in evaluating children with developmental delay and neurological symptoms, and early recognition of such malformations may contribute to better clinical follow-up and family guidance.