Congenital absence of the trachea

Congenital absence of the trachea is a rare cause of severe neonatal respir atory distress. Experimental studies show that it is probably caused by dis orders in a system of folds in the tracheo-oesophageal space rather than ab normalities of a tracheo-oesophageal septum. A literature review disclosed 82 cases of tracheal agenesis, which showed male predominance and an associ ation with prematurity and polyhydramnios. In 90% of cases associated conge nital malformations were present, most frequently affecting the cardiovascu lar or gastro-intestinal systems and the genito-urinary tract. Clinical sig ns of tracheal agenesis or atresia are respiratory insufficiency, often wit h severe respiratory distress. absence of audible crying and difficult or i mpossible endotracheal intubation. At present, curative repair and survival are impossible unless there is enough proximal or distal trachea to create a tracheostoma. Important ongoing research is aimed at tissue-engineered c artilage for surgical repair of tracheal defects. Conclusion Tracheal agenesis, although very rare, call be recognised from a characteristic clinical pattern. Mostly associated congenital malformation s are present. Research into tissue-engineering might lead to possibilities for definitive surgical repair of tracheal agenesis or atresia; however, u ntil curative repair becomes possible, prolonged ventilation via the oesoph ageal tube does not seem to be worthwhile.