Agenesis of right diaphragm in the adults: a diagnostic dilemma.

Abstract

Diaphragmatic agenesis is the most extreme form of congenital diaphragmatic defect, and it may be unilateral or bilateral. Diaphragmatic agenesis is a rare diagnosis, typically made early in infancy and is generally associated with other genetic anomalies, especially anueploidy syndromes. It is associated with a high mortality, if not treated in infancy. However, a few patients have survived till adulthood. In this report, we describe the case of an adult female who presented with progressive shortness of breath during third trimester of pregnancy with complete agenesis of the right side of the diaphragm. A new diaphragm was created using polypropylene mesh after which she improved symptomatically and the lung showed good expansion.