An unanticipated case of congenital high airway obstruction syndrome with type C tracheoesophageal fistula and cerebral ventriculomegaly in a preterm infant - is a small stomach a remote clue?

OBJECTIVES: To detail the clinical presentation, diagnostic challenges and autopsy findings of a neonate with unanticipated Congenital High Airway Obstruction Syndrome (CHAOS) and esophageal atresia (EA) with tracheo-esophageal fistula (TEF), while noting the small stomach as an observational prenatal finding in the absence of polyhydramnios that may prompt evaluation of the upper airway.

CASE PRESENTATION: Thirty one weeks male neonate was born by vaginal delivery with severe respiratory distress following preterm prolonged rupture of membranes (PPROM) and placental abruption presenting with profound hypotonia and low Apgar scores. Antenatal imaging at 20 and 22 weeks had confirmed a small stomach and bilateral cerebral ventriculomegaly but consistently with normal amniotic fluid. Attempts at endotracheal intubation failed as the ETT could not be advanced past the vocal cords. During positive pressure ventilation (PPV), air was seen puffing in the neck, raising suspicion for upper airway obstruction. Emergency tracheostomy failed to achieve ventilation. Resuscitation was stopped about 90 min of life. Autopsy report showed congenital laryngeal/tracheal atresia at the level of the cricoid cartilage, proximal esophageal atresia with Type C TEF, hypoplastic lungs and a small stomach.

CONCLUSIONS: This case suggests that small stomach may be an observational prenatal finding for associated esophageal obstruction, prompting evaluation of the upper airway, especially in the setting of normal amniotic fluid. A high degree of suspicion for CHAOS should guide management in neonates presenting with severe respiratory distress and failed intubation. If difficult intubation is anticipated, ENT team availability will help for immediate tracheostomy.