title: Tracheal agenesis without esophageal fistula: genetic, resuscitative, and pathological issues.
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.
authors.affiliation: Neonatal Intensive Care Unit, Department of Paediatrics, University Hospital A. Gemelli-Catholic University of the Sacred Heart, 00168 Rome, Italy. daniele.deluca@edu.rm.unicatt.it
authors.forename: Daniele
authors.initials: D
authors.lastname: De Luca
authors.forename: Maria Pia
authors.initials: MP
authors.lastname: De Carolis
authors.forename: Arnaldo
authors.initials: A
authors.lastname: Capelli
authors.forename: Francesca
authors.initials: F
authors.lastname: Gallini
authors.forename: Gaetano
authors.initials: G
authors.lastname: Draisci
authors.forename: Raffaella
authors.initials: R
authors.lastname: Pinto
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Arena
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000628:therapy; D001344:Autopsy; D001784:Blood Gas Analysis; D016887:Cardiopulmonary Resuscitation / Q000379:methods*; D004937:Esophageal Fistula; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D007363:Intensive Care Units, Neonatal; D008297:Male; D012121:Respiration, Artificial / Q000379:methods; D012127:Respiratory Distress Syndrome, Newborn / Q000175:diagnosis* / Q000628:therapy; D014132:Trachea / Q000002:abnormalities*