Congenital Diaphragmatic Hernia with Lung Hypoplasia – A Cause of Sudden Death in a Neonate

Abstract

Sudden unexpected deaths in neonates usually result from underlying natural disease. We report a case of death in a full term apparently healthy female neonate delivered normally at the -M.I.M.E.R. Medical College hospital, Talegaon, Pune, India, who cried after birth, developed cyanosis and died in a few minutes. The foetus was received in the Dept. of Anatomy, M.I.M.E.R. Medical College for embalming and dissection. Detailed examination and dissection revealed congenital diaphragmatic hernia (CDH) with bilateral lung hypoplasia in the newborn. With the advent of better antenatal diagnosis and neonatal care, the chances of survival in CDH have improved. However, there still remains a significant risk of death and complications in infants with CDH, primarily due to the associated lung hypoplasia. The insult to the lungs is now thought to be an independent, associated finding, due to a common genetic pathway involved in the development of the diaphragm and the lungs, rather than a cause-effect relationship. Keywords - Sudden death, neonate, congenital diaphragmatic hernia, lung hypoplasia, genetic pathway