Three new cases of congenital agenesis of the trachea

Eur J Pediatr. 2007 Jan;166(1):79-82. doi: 10.1007/s00431-006-0210-4. Epub 2006 Aug 3.

Abstract

Congenital absence of the trachea is a rare anomaly that might confront the obstetrician or neonatologist with an unexpected emergency. These patients present with cyanosis, severe respiratory distress, insufficient gas exchange, absence of audible crying and difficult or impossible endotracheal intubation. In more than 90% it is associated with further congenital malformations. Adequate oxygenation depends on the existence of a tracheo- or bronchooesphageal fistula and the length of the proximal trachea. We present the cases of three neonates with tracheal agenesis with tracheooesophageal fistula. Two of the neonates died within the first hour of life because endotracheal intubation was impossible and oxygenation through an oesophageally placed tube was insufficient. The third infant could be oxygenated through a tracheooesophageal fistula. The ventilation was at least insufficient and no surgical intervention was made. The diagnosis of a congenital absence of the trachea usually is made after birth because of the clinical signs and the course within the first minutes of life. The only way that the diagnosis can be made prenatally is by magnetic resonance imaging (MRI). The knowledge of this clinical picture helps to make decisions in an unexpected emergency in the immediate postpartum period and also in patients whose ventilation is very difficult right from the start.

Publication types

  • Case Reports

MeSH terms

  • Fatal Outcome
  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Trachea / abnormalities*
  • Tracheoesophageal Fistula / etiology