Semi Lobar Holoprocencephaly: Case Report

Holoprosencephaly (HPE) results from failure of the prosencephalon (embryonic forebrain) to into the cerebral hemispheres and lateral ventricles between the fourth and eighth week of gestation . HPE has been graded as alobar, semilobar and lobar. In the semi lobar type, the hemispheres have a tendency to separate, the ventricles are partly segmented, and the thalami are fused incompletely.

We present in this abstract a case of new­born diagnosed with semi lobar holoprosencephaly with transfontanellar ultrasound and brain CT.

A term male baby weighing 3.500 kg was born to a 26-year-old mother at 40 weeks gestation by normal vaginal delivery. He was born to a first-degree consanguineous parent. The pregnancy was partially investigated. The baby was born without any movement of body (vegetative state). The transfortanellar ultrasound showed : A major dilatation of the cerebral ventricles, Semi lobar holoprosencephaly was diagnosed by brain CT. The infant died few hours after birth.

Severe HPE is a fatal condition in the majority of cases , as the neonate in the current study died immediately after birth. Clinical presentation depends on the severity of the malformations. HPE is diagnosed prenatally by ultrasound and MRI, Prognosis of HPE depends on the severity of brain abnormalities.