Tracheal agenesis and esophageal atresia with proximal and distal bronchoesophageal fistulasTracheal 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.
Tracheal agenesis without esophageal fistula: genetic, resuscitative, and pathological issuesAn exceptional case of tracheal agenesis with no communication with the esophagus is described. This malformation needs surgical airway approach and is hardly classifiable. We analyzed the literature and our institutional data: this resulted to be the first case of such anatomical variant. Genetic and pathological issues are reviewed: recent genetic data seem to explain this malformation. We also reviewed the available literature about prenatal presentation. Because prenatal diagnosis is difficult to achieve and current guidelines for neonatal resuscitation do not provide any recommendation, the resuscitative team may not be prepared for managing such a case.
Tracheal agenesis with unique anatomyA premature infant with a unique form of tracheal agenesis is described. The combination of difficulty in intubation, abnormal course of the nasogastric tube on plain x-ray, and gastric perforation raised the suspicion of an upper airway malformation. Tracheal agenesis is an extremely rare, typically fatal, congenital anomaly with scattered case reports of its successful management. On many occasions, the diagnosis is a retrospective one at postmortem examination. The possibility of surgical correction rests on early diagnosis, anatomy, birth weight, and associated anomalies.