Central diaphragmatic hernia and congenital short esophagus: Embryology and long-term follow-up

Abstract We present a rare case of congenital diaphragmatic hernia (CDH) with intrathoracic stomach associated with a congenital short esophagus prenatally diagnosed in a male fetus. The unusual hernia appeared right-sided but did not contain liver, instead containing stomach, small and large bowel, and spleen. The infant was delivered preterm at 32 weeks gestation. At 9 days of age, the spleen, small bowel and large bowel were reduced into the abdominal cavity. The stomach was only partially reduced because of the congenital short esophagus. Gastropexy and a gastrostomy were also performed. The diaphragmatic defect was fixed around the stomach, which later presented problems requiring another surgery. Additional operations 1. Tracheostomy placed (3 months) 2. Stomach repositioned more into the abdominal cavity & gastrostomy redone (8 months) 3. Duodenoplasty (postoperative small bowel obstruction) (9 months). Outcome The patient is currently alive at 11 years old and continues with a gastrostomy tube (g-tube) and tracheostomy dependent. Lessons To the best of our knowledge, this patient is the longest surviving patient with congenital diaphragmatic hernia and intrathoracic stomach caused by CSE. Early diagnosis and continued monitoring remains a key feature to survival.