Tracheal agenesis without esophageal fistula: genetic, resuscitative, and pathological issues

An 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. Usefulness of uncommon resuscitative maneuvers is discussed: a promptly performed surgical tracheotomy is the only mean to ventilate such a baby.