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Review
. 2012 Mar;171(3):425-31.
doi: 10.1007/s00431-011-1563-x. Epub 2011 Sep 15.

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

Maurike D de Groot-van der Mooren  1 , Monique C Haak, Phillis Lakeman, Titia E Cohen-Overbeek, J Patrick van der Voorn, Jochen H Bretschneider, Ruurd M van Elburg
Affiliations
Review

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

Maurike D de Groot-van der Mooren et al. Eur J Pediatr. 2012 Mar.

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.

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Figures

Fig. 1
Fig. 1
Classification system of tracheal agenesis (TA). (1) Faro type A: total pulmonary agenesis. (2) Faro type B/Floyd type III: complete TA with a separate origin of the main bronchi from the esophagus. (3) Faro type C: total TA with normal main bronchi fusing in the midline at the carine; a trachea-esophageal fistula (TOF) is present. Floyd type II: total TA with normal main bronchi fusing in the midline at the carine; a TOF may or may not (not shown) be present. (4) Faro type D: larynx joined by atresic strand to distal trachea with a TOF present. (5) Faro type E/Floyd type I: agenesis of the proximal trachea with a normal caudal segment of the distal trachea and a TOF. Faro type F: agenesis of the proximal trachea with a normal caudal segment of the distal trachea and no TOF is present (not shown). (6) Faro type G: TA in a short segment
Fig. 2
Fig. 2
Postaxial polydactyly type 1 of the left hand of the current case
Fig. 3
Fig. 3
Autopsy specimen of the current case. Showing a tracheoesophageal fistula (arrow) and bifurcation to the left (L) and right lung (R). Es esophagus
See this image and copyright information in PMC

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Supplementary concepts

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