Tracheal agenesis without esophageal fistula: genetic, resuscitative, and pathological issues

De Luca, Daniele; De Carolis, Maria Pia; Capelli, Arnaldo; Gallini, Francesca; Draisci, Gaetano; Pinto, Raffaella; Arena, Vincenzo

doi:10.1016/j.jpedsurg.2007.10.004

« Previous Next »Journal of Pediatric Surgery
Volume 43, Issue 1 , Pages e29-e32, January 2008

Tracheal agenesis without esophageal fistula: genetic, resuscitative, and pathological issues

Daniele De Luca
- Neonatal Intensive Care Unit, Department of Paediatrics, University Hospital “A. Gemelli”-Catholic University of the Sacred Heart, 00168 Rome, Italy
- Corresponding author. Divisione di Neonatologia, Dpt. di Scienze Pediatriche, Policlinico Universitario “A. Gemelli”, Università Cattolica del Sacro Cuore, 00168 Roma, Italia. Tel.: +39 0630154169; fax: +39 063383211.
Maria Pia De Carolis
- Neonatal Intensive Care Unit, Department of Paediatrics, University Hospital “A. Gemelli”-Catholic University of the Sacred Heart, 00168 Rome, Italy
Arnaldo Capelli
- Institute of Pathology, University Hospital “A. Gemelli”-Catholic University of the Sacred Heart, 00168 Rome, Italy
Francesca Gallini
- Neonatal Intensive Care Unit, Department of Paediatrics, University Hospital “A. Gemelli”-Catholic University of the Sacred Heart, 00168 Rome, Italy
Gaetano Draisci
- Department of Anaesthesiology and Intensive Care, University Hospital “A. Gemelli”-Catholic University of the Sacred Heart, 00168 Rome, Italy
Raffaella Pinto
- Department of Anaesthesiology and Intensive Care, University Hospital “A. Gemelli”-Catholic University of the Sacred Heart, 00168 Rome, Italy
Vincenzo Arena
- Institute of Pathology, University Hospital “A. Gemelli”-Catholic University of the Sacred Heart, 00168 Rome, Italy

Abstract

An exceptional case of tracheal agenesis with no communication with the esophagus is described. This malformation needs surgical airway approach and is hardly classifiable. We analyzed the literature and our institutional data: this resulted to be the first case of such anatomical variant. Genetic and pathological issues are reviewed: recent genetic data seem to explain this malformation. We also reviewed the available literature about prenatal presentation. Because prenatal diagnosis is difficult to achieve and current guidelines for neonatal resuscitation do not provide any recommendation, the resuscitative team may not be prepared for managing such a case. Usefulness of uncommon resuscitative maneuvers is discussed: a promptly performed surgical tracheotomy is the only mean to ventilate such a baby.