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 (CSE) 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 CSE. 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 and 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 CDH and intrathoracic stomach caused by CSE. Early diagnosis and continued monitoring remain a key feature to survival.

Keywords

• Congenital diaphragmatic hernia (CDH)
• Congenital short esophagus (CSE)
• Gastroesophageal reflux disease (GERD)