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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.

SUBMITTER: de Groot-van der Mooren MD

PROVIDER: S-EPMC3284653 | biostudies-literature | 2012 Mar

REPOSITORIES: biostudies-literature

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

de Groot-van der Mooren Maurike D MD Haak Monique C MC Lakeman Phillis P Cohen-Overbeek Titia E TE van der Voorn J Patrick JP Bretschneider Jochen H JH van Elburg Ruurd M RM

European journal of pediatrics 20110915 3

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 ...[more]

PMID: 21918809

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

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

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