Semilobar holoprosencephaly – perinatal outcome

Holoprosencephaly (HPE) results from failure of the prosencephalon to differentiate into the cerebral hemispheres and lateral ventricles between the fourth and eighth week of gestation. Most cases are associated with severe malformations of the brain and face, which are incompatible with survival and often cause spontaneous intrauterine death. Neonates can present with defects of the eyes, nose, and upper lip with normal or borderline developmental delays, seizures, motor impairment and endocrinologic dysfunction. We report the case of semilobar holoprosencephaly of a term female newborn, diagnosed by brain ultrasound at two hours after delivery, born from an uncontrolled pregnancy. The neonate had severe asphyxia as a result of massive meconial aspiration, severe metabolic acidosis and unstable vital signs. We found no facial and other malformations. After some time of successful and complete resuscitation, the neonate died in cardiorespiratory arrest in the sixth hour of life. We conclude that the perinatal survival rate of children with semilobar holoprosencephaly can be prolonged in controlled pregnancies, when we can plan the optimal time of the delivery and adequate neonatal care.