Bilateral congenital diaphragmatic agenesis

Article type: Research Article

Authors: Rais-Bahrami, Khodayar | Hsiao, Dorothy | Short, Billie L. | Baumgart, Stephen

Affiliations: Children's National Medical Center, Washington, DC, USA | Department of Neonatology, Washington Adventist Hospital, Takoma Park, MD, USA

Note: [] Corresponding author: K. Rais-Bahrami, M.D., Department of Neonatology, Children's National Medical Center, 111 Michigan Avenue, N.W., Washington, D.C. 20010-2970, USA. Tel.: +1 202 476 4764; Fax: +1 202 476 3459; E-mail: [email protected]

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.

Journal: Journal of Neonatal-Perinatal Medicine, vol. 1, no. 1, pp. 59-62, 2008