Concurrent esophageal atresia with tracheoesophageal fistula and hirschsprung disease in a term neonate: A case report

Abstract

Introduction

Concurrent esophageal atresia with tracheoesophageal fistula and Hirschsprung disease is a rare combination of congenital anomalies, with only four cases reported to date in full-term neonates.

Case presentation

A 4-day-old full-term neonate from rural Ethiopia was brought to our pediatric surgical unit with symptoms of respiratory distress and excessive frothy secretions. Chest exam revealed intercostal and subcostal retractions along with crepitation in the right posterior chest. The abdomen was distended, and a positive blast sign was noted during the rectal exam. Echocardiography showed a small patent ductus arteriosus. We attempted to pass an orogastric tube, but it was not possible. Chest and abdominal X-rays showed air in the stomach and the orogastric tube in the upper esophagus, suspicious for an esophageal atresia with a tracheoesophageal fistula. The patient had persistent thrombocytopenia, requiring multiple platelet transfusions, and was treated for aspiration pneumonia before he was deemed stable to undergo an operation. He received daily maintenance fluids with electrolytes for nutritional support and underwent daily rectal irrigations. On day of life 17 he was taken to the operating room. We found and ligated a distal tracheoesophageal fistula and did an end-to-end esophageal anastomosis via right thoracotomy. Because of the ongoing need for daily rectal irrigations, we also did a full thickness transanal rectal biopsy and confirmed the diagnosis of Hirschsprung disease. Postoperatively, the patient had no complications and has since started breastfeeding. He continues to receive rectal stimulation and irrigation and is on the wait list for his pull-through operation.

Conclusion

A high index of suspicion for Hirschsprung disease is crucial in patients with esophageal atresia and tracheoesophageal fistula, delayed meconium passage and lack of spontaneous bowel function.