Publication:

Alobar holoprosencephaly and cebocephaly in neonate: a case report

Holoprosencephaly is a rare congenital malformation characterized by the failure of the forebrain to divide into two hemispheres. Cebocephaly is a form of craniofacial abnormality associated with holoprosencephaly, marked by hypotelorism (closely spaced eyes) and a malformed nose-often small, flattened, or presenting as a single imperforate nostril. This case highlights the diagnostic challenges and clinical outcomes associated with severe holoprosencephaly accompanied by cebocephaly in a preterm neonate. We report a case of alobar holoprosencephaly diagnosed via obstetric ultrasound in the third trimester. The neonate was born prematurely and presented with polyhydramnios and multiple congenital anomalies. On examination, the infant had microcephaly, hypotelorism, anophthalmia, and a small nose with a single imperforate nostril. Based on clinical and radiographic findings, the diagnosis of alobar holoprosencephaly with cebocephaly was confirmed. The parents were counselled extensively regarding the presence of multiple congenital anomalies, likely hypoxic-ischemic encephalopathy, and the poor prognosis for survival and quality of life. After a multidisciplinary discussion involving the medical team and the family, palliative care was initiated. The neonate passed away one hour after birth. This case underscores the importance of prenatal diagnosis, multidisciplinary management, and compassionate parental counselling in cases involving severe congenital anomalies such as holoprosencephaly and cebocephaly.