Congenital Diaphragmatic Hernia With Extra-Lobar Pulmonary Sequestration Presenting As Gastric Volvulus In A Healthy 24-Year-Old Female

Abstract

Congenital diaphragmatic hernias (CDH) carry significant morbidity and mortality risk due to compressive effects in the thorax during organogenesis and impaired development of lung tissue and vasculature. Prenatal screening now often allows for diagnosis of CDH in utero and for subsequent coordination of neonatal medical and surgical therapies to limit the early mortality risk. Here we discuss delayed presentation in a healthy 24-year-old female with diffuse abdominal pain secondary to gastric volvulus. Intraoperatively, this patient was found to have a previously undiagnosed congenital diaphragmatic hernia and concurrent extralobar pulmonary sequestration which mimicked gastric perforation on preoperative imaging. Concurrent congenital abnormalities of organogenesis with CDH and pulmonary sequestration have been described. These concurrent pathologies must be in the differential for surgeons operating on adults with late presentation of CDH. Sequestered lung tissue has a risk of malignant transformation and chronic infection necessitating thorough exploration of the hernia sac for identification of this concurrent pathology and careful resection of sequestered pulmonary tissue during CDH repair.