Hydrocephalus in non-syndromic and syndromic holoprosencephaly: 8-Years of experience in a single institution

Holoprosencephaly (HPE) is a birth defect caused by incomplete separation of the prosencephalon. It is often accompanied by hydrocephalus, which is more common in severe cases of alobar holoprosencephaly (aHPE). This study examined four infants with HPE who all presented with hydrocephalus. The study suggests that the development of HPE is complex and the treatment should be tailored to each individual. Genetic and environmental factors are believed to contribute to HPE. While the exact cause is unknown, the disruption of Sonic hedgehog (SHH) signaling pathway is thought to play a role. HPE diagnosis can be done prenatally with ultrasound or MRI, postnatally by CT or MRI scans. Treatment includes management of symptoms and addressing any syndromic features that may be present. Shunts are often placed to treat hydrocephalus. All four patients in this study required VP shunts to treat their hydrocephalus.