Indian Pediatrics 1999; 36:502-503 

Tracheal Agenesis

Tracheal agenesis is a rare congenital malformation which is as yet incorrectible. Respiratory distress at birth, absent cry, failure to intubate and successful ventilation through accidental esophageal intubation are the hallmarks of diagnosis. We describe here a case who had tracheal agenesis with other organ malformations.

Case Report

A male baby with a birth weight of2.65 kg was born at 34 weeks to a fourth gravida mother by vaginal delivery. She had two nor- mal babies and had one first trimester abortion before present pregnancy. Ultrasound during present pregnancy showed polyhydramnios and hydronephrosis on the left side. Gestational age by LMP was 34 weeks and by assessment was 36 weeks. The baby had respiratory distress, cyanosis, and he did not cry at birth. Bag and mask ventilation was started initially. Apgar at 1 minute was 3. Since there was inadequate improvement following bag and mask ventilation, endotracheal intubation was attempted. However, the tube could not be negotiated beyond glottis. Repeated at- tempts at intubation failed and hence bag and mask ventilation was continued. At one hour of life baby was "intubated" and manual IPPR was started. Blood gases on IPPR were as follows: pH 7.37, p02 109, and pC02 33. At 3 hours of life, the baby was spontaneously extubated and attempted intubation revealed failure to advance the tube beyond the glottis. A diagnosis of tracheal agenesis was entertained and esophageal intubation was done. Contrast studies were performed by passing a feeding tube through the endotracheal (in fact an esophageal tube). The whole bronchial tree along with feeding tube tip in stomach (Fig. 1) was visualized bilaterally. This explained effective ventilation through esophageal tube since both the bronchi were arising from the esophagus. Systemic examination revealed a lump abdomen extending from left lumbar quadrant across the midline to the right lumbar quadrant. Subsequently the baby had severe hypoxemia and the patient expired at 29 hours of life. Autopsy examination re- vealed: (i) Tracheal agenesis type 3 with both the mainstenibronchi arising from the middle one third of esophagus; (ii) Partial anomalous pulmonary venous drainage with a large ASD; and (iii) Horse-shoe kidney with right side showing multicystic changes.

Discussion

Tracheal agenesis is a rare malformation with a reported incidence of 2 per 100000 live births(l) which was first described by Payne(2). Tracheal agenesis is classified

 

Fig. 1. Contrast X-ray shows dye in the bronchial tree and feeding tube through endotracheal tube in the stomach with gaseous distension.

according to Floyd into three types(3). In type 1 (10%), there is a normal carina and except for a short distal part, the-whole trachea is ab- sent. In type 2 (59%) the whole trachea is lacking but bronchi join in the midline. In type 3 (31 %) both bronchi arise separately from esophagus. Almost always the esophagus communicates with bronchi or trachea and this communication is called bronchoesophageal fistula. Other malformations are asso- ciated with this condition in 84% of the cases. Cardiovascular malformations are seen in 61 % of the cases while genitourinary and gastrointestinal tract malformations occur in 40% of the cases. As in this case absent cry, respiratory distress soon after birth and failure to advance tube beyond glottis are the initial presenting features. Esophageal intubation, often inadvertent, results in initial improvement in ventilatory status of the baby though death is inevitable due to subsequent respiratory failure. Endoscopy of the larynx may show a blind ending pouch while esophagoscopy will show the fistula (e) between bronchi or trachea and the esophagus. Contrast studies visualize the fistula. Lateral X-ray of the trachea may delineate the cranial end of the trachea.

Curative surgery for this condition would consist of implantation of a tracheal prosthesis and would require preoperative ECMO. At present this approach remains in the realm of theoretical possibility. Various surgical approaches have been tried but only two cases have survived. They survived following tracheostomy. In both the cases the atretic segment was short(4).

 References