Bilateral congenital diaphragmatic agenesis

Abstract

Bilateral agenesis of the diaphragm is a rare and life-threatening congenital malformation. Most infants reported with this condition have not survived to undergo surgical intervention. We describe two varying presentations of bilateral agenesis of the diaphragm. One presented with severe respiratory failure, unresponsive to conventional therapy dying in the delivery room, and the other surviving to be placed on extracorporeal life support therapy, but dying after a successful extracorporeal membrane oxygenation (ECMO) course of therapy. At autopsy both cases were found to have bilateral pulmonary hypoplasia associated with bilateral agenesis of the diaphragm with congenital diaphragmatic hernias.