Abstract

Tracheal agenesis is a severe congenital disorder with often an emergency presentation. There is acomplete or partial absence of the trachea below the larynx, with the presence or absence of atracheoesophageal fistula. It is a rare differential diagnosis of postnatal respiratory distress and theobstetrician or neonatologist will regularly be surprised by this malformation. The etiology ofTracheal atresia is unknown, therapeutic options are limited thus making this condition a usuallyfatal disorder. In most cases, congenital anomalies of the heart, digestive tract or GUT are present.The main signs are respiratory distress and cyanosis, inability to vocalize and impossible trachealintubation. Isolated tracheal agenesis without any malformation is very rare. Here we report a caseof a preterm neonate born at 33 weeks gestation with tracheal agenesis with no other associatedmalformation. In most cases, the seldom deformation, tracheal agenesis does not get recognizedbefore the child is born.

Highlights

  • Some congenital anomalies are not amenable to surgical treatment

  • Close to 200 cases have been reported in the literature with only a handful of cases reporting long-term survival [4]. It is frequently combined with other anomalies of the vertebrae, anal atresia, cardiovascular anomalies, tracheoesophageal atresia, renal/radial anomalies and limb defects(VACTERL)and tracheal agenesis, cardiac, renal and duodenal malformation (TACARD association) [5]

  • We report a case of antenatally unknown tracheal agenesis with no other major abnormalities and reviewed the literature

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Summary

Introduction

Tracheal agenesis is one such congenital anomaly with limited therapeutic options. This lethal defect has an incidence of 2 per 1,00,000 live births [1]. Close to 200 cases have been reported in the literature with only a handful of cases reporting long-term survival [4]. It is frequently combined with other anomalies of the vertebrae, anal atresia, cardiovascular anomalies, tracheoesophageal atresia, renal/radial anomalies and limb defects(VACTERL)and tracheal agenesis, cardiac, renal and duodenal malformation (TACARD association) [5]. Based on these findings, type II Tracheal atresia with bronchioesophageal fistula was diagnosed.

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