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Tracheal agenesis

ORPHA3346
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance Not applicable
Age of onset Neonatal
Antenatal
ICD-10
  • Q32.1
OMIM -
UMLS
  • C1261567
MeSH
  • C536975
MedDRA -

Summary

Tracheal agenesis (TA) is a rare congenital malformation in which the trachea may be completely absent (agenesis), or partially in place but underdeveloped (atresia). In both cases, proximal-distal communication between the larynx and the alveoli of the lungs is lacking. The prevalence at birth is approximately 1 in 50 000. There is a male predominance and an association with prematurity and polyhydramnios. Associated congenital malformations are present in 90% of cases, most frequently affecting the cardiovascular or gastro-intestinal systems and the genito-urinary tract, thus overlapping with the much commoner condition, VATER association. No risk factor for the occurrence of this malformation has ever been suggested. Tracheal agenesis should be suspected in any neonate with a history of hydramnios, respiratory distress, cyanosis and no audible cry, and in those in whom tracheal intubation proves impossible. The diagnosis of TA is confirmed by laryngoscopy and a helical computerized tomography (CT) scan of the airway. The diagnosis has been established antemortem in only a few cases. There is no long-term surgical solution because no suitable material for a tracheal prosthesis is available at present. Research into tissue engineering might lead to possibilities for definitive surgical repair of tracheal agenesis or atresia; however, until curative repair becomes possible, prolonged ventilation via the oesophageal tube does not seem to be worthwhile. This malformation is usually fatal in newborns; however, one infant, who had tracheal agenesis with a bronchoesophageal fistula, was managed successfully. At 3 years of age, esophageal reconstruction was performed with a colonic interposition graft. The patient was thriving and developing normally at 4 years of age.


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