Bilateral Congenital Diaphragm Agenesis in a Neonate with Hydrocephalus: Case Report

Abstract

Congenital diaphragmatic hernia (CDH) is one of the most common anomalies in neonates. Diaphragmatic agenesis (DA) is rare and is considered at the extreme spectrum of CDH, it is associated with a higher rate of multiple anomalies.

A male neonate with antenatal diagnosis of CDH and hydrocephalus was born at estimated gestational age of 36 + 4 weeks by emergency Caesarean section due to fetal distress. Chest x-ray showed a common pleuroperitoneal cavity with the liver, spleen, and stomach seen in the thoracic cavity suggesting the diagnosis of bilateral absence of the diaphragm, the neonate died after an hour and a half. DA associated with hydrocephalus has never been previously reported in the literature.