An atypical variant of congenital bronchoesophageal fistula associated with esophageal atresia and right main bronchial atresia and right lung hypoplasia in a preterm neonate: a case report

BACKGROUND: Congenital bronchoesophageal fistula (BEF) is a rare communicating bronchopulmonary foregut malformation (CBPFM) characterized by an abnormal connection between the esophagus and a bronchial segment or lung tissue. While esophageal atresia (EA), with or without tracheoesophageal fistula, occurs in approximately 2-3 per 10,000 live births, EA associated with CBPFM/congenital BEF is far rarer, with no established population-based incidence and only several dozen reported CBPFM cases in the literature. Most congenital BEFs present in childhood or adulthood with chronic, nonspecific respiratory symptoms and recurrent infections, whereas neonatal presentations are typically linked to major associated anomalies such as EA. Importantly, complex neonatal constellations-particularly those combining EA with bronchial atresia and a severely hypoplastic, non-aerated lung-may represent an atypical CBPFM variant that does not fit neatly within traditional BEF classification schemes. CASE PRESENTATION: We report a premature Arab female infant born at 32 weeks gestation who presented with respiratory distress, copious oral secretions, and radiographic features of EA with complete right hemithorax opacification and mediastinal shift to the right on a chest X-ray (CXR). After initial stabilization, a gastrostomy tube was inserted. Contrast studies via the gastrostomy tube and computed tomography angiography (CTA) revealed EA with a fistulous communication between the distal esophagus and right bronchial structures, along with a severely hypoplastic right lung. On day 33 of life, the patient underwent surgery. Intraoperative findings confirmed a fistula between the atretic right main bronchus and the lower esophagus, with a nonfunctioning right lung. Definitive EA repair and right pneumonectomy were performed. Histopathology revealed bronchial atresia involving the right main bronchus with right pulmonary hypoplasia. The postoperative course was complicated by pneumothorax, pneumomediastinum, sepsis, and persistent anastomotic leakage, and was managed conservatively with drainage, antimicrobial/antifungal therapy, and prolonged total parenteral nutrition. Serial contrast studies confirmed gradual leak resolution, and oral feeding was started by postoperative day 87. On follow-up, the infant initially maintained oxygen saturation and stable vital signs in room air without respiratory support; however, feeding advancement was complicated by recurrent vomiting and suspected delayed gastric emptying/gastroparesis. Despite combined parenteral and enteral nutrition and a trial of continuous orogastric tube feeding, the infant later developed severe septic shock requiring intravenous antibiotics and ventilatory support. The septic shock was refractory, and the patient died at 5 months of chronological age, corresponding to approximately 3 months corrected age. CONCLUSION: This case represents an atypical congenital BEF variant in which EA coexists with a distal esophageal fistula to an atretic right main bronchus and a severely hypoplastic, non-aerated right lung, highlighting a classification-challenging phenotype. It underscores the crucial role of early targeted imaging in neonates with suspected EA and unilateral lung hypoplasia/atresia. Advanced imaging enables accurate diagnosis and guides surgical planning, while the fatal follow-up course highlights the clinical vulnerability of these patients and the need for careful long-term multidisciplinary monitoring.