Tracheal agenesis and esophageal atresia with proximal and distal bronchoesophageal fistulas

Abstract

Tracheal agenesis (TA) is an extremely rare, typically fatal congenital tracheal malformation. Lack of prenatal symptoms and emergent presentation usually lead to a failure to arrive at the correct diagnosis and manage the airway properly before the onset of irreversible cerebral anoxia. Esophageal atresia (EA) encompasses a group of congenital anomalies comprising an interruption of the continuity of the esophagus with or without a persistent communication with the trachea. In 86% of cases, there is a distal tracheoesophageal fistula (TEF); in 7%, there is no fistulous connection, whereas in 4%, there is a TEF without atresia. We report the case of an infant born with TA and EA with proximal and distal bronchoesophageal fistulas. During 3 consecutive antenatal ultrasound examinations, there had been polyhydramniosis, difficulty visualizing the stomach, and dilatation of proximal esophagus, leading to a presumptive diagnosis of EA. The clinical presentation, embryology, classification, and surgical management are discussed.