Tracheal agenesis: approach towards this severe diagnosis. Case report and review of the literature

Abstract

Tracheal agenesis (TA) is a severe congenital disorder with often an unexpected emergency presentation. There is complete or partial absence of the trachea below the larynx, with presence or absence of a tracheoesophageal fistula (TOF). A neonate with TA is described, and another 48 cases found in literature are reviewed. Due to absence of a TOF, five cases were diagnosed prenatally because of congenital high airway obstruction syndrome (CHAOS). When a TOF is present, polyhydramnion and several other congenital malformations seen on the ultrasound examination should alert clinicians of potential tracheal problems. Prenatal magnetic resonance imaging (MRI) may provide a definitive diagnosis. Postnatal diagnosis is based on recognition of specific clinical signs in the newborn with TA: respiratory distress with breathing movement without appropriate air entry, no audible cry, and failed endotracheal intubation. Despite progress in surgical interventions, mortality remains high. Prenatal diagnosis of TA is possible, but only if a TOF is absent resulting in CHAOS. Prenatal diagnosis of polyhydramnion and other congenital malformation should alert clinicians of potential tracheal problems. Prenatal MRI may provide a definitive diagnosis.

Case-based discussion from the neonatal intensive care unit: a case of an intentional oesophageal intubation

“…Estimated incidence is 1 per 50 000 births, with a male-to-female ratio of 2:1 44 all of which were present in this case. Various factors, genetic and environmental, have been proposed, but no clear causation has been proven 4…”

“…Flody’s classification system is most commonly used and separates TA into three types4:Type 1: oesophagus connected to distal trachea via fistula (incidence 11%).Type 2: oesophagus connected to carina via fistula (incidence 61%).Type 3: two main bronchi arise from oesophagus (incidence 23%). …”

Tracheal Agenesis: Rare but Challenging

“…Less than 200 cases have been published [3]. During the first eight weeks of gestations, the tracheopulmonary complex develops from the respiratory diverticulum at the ventral aspect of the primitive foregut.…”

“…Its prevalence is less than 1:50,000 with a male to female ratio of 2:1 [2,3]. It was initially described in 1900 by Payne and only few cases were published worldwide [1].…”

Congenital high airways obstruction syndrome – first and second trimester diagnosis

“…In a recent literature review, de Groot‐van der Mooren (2012) and colleagues reported that in 72% of cases, polyhydramnios was present in fetuses with tracheal atresia (TA) and a TOF, and in more than half of these cases there were no other mechanisms for polyhydramnios. They suggested that the diagnosis of TA should be considered when polyhydramnios develops, particularly in combination with associated anomalies 4 .…”