Delayed presentation of type I jejunal atresia radiologically mimicking malrotation in an infant with Down syndrome and congenital heart disease: a case report

Background: Type I jejunal atresia presenting beyond the neonatal period is exceptionally rare and may mimic other obstructive gastrointestinal pathologies. Concurrent syndromic and cardiopulmonary comorbidities add substantial complexity to diagnosis and perioperative management. Case presentation: A 2-month-old male infant with Down syndrome and complex congenital heart disease (large patent ductus arteriosus, atrial septal defect, ventricular septal defect, and moderate mitral and tricuspid regurgitation) presented with a 3-week history of progressive bilious vomiting and acute-onset, severe metabolic acidosis. Preoperative upper gastrointestinal contrast study demonstrated delayed transit with proximal dilatation, raising concern for intestinal malrotation. Cardiac surgery had been deferred due to a preceding episode of culture-negative sepsis. Exploratory laparotomy revealed a type I jejunal atresia (intraluminal web) located approximately 20 cm distal to the ligament of Treitz, with no intraoperative evidence of malrotation or volvulus. A short-segment bowel resection with primary end-to-end anastomosis was performed. Conclusion: Late-presenting type I jejunal atresia can radiologically simulate malrotation, particularly when chronic partial obstruction has produced marked proximal dilatation. In syndromic neonates and infants with significant cardiopulmonary disease, a structured multidisciplinary approach – including aggressive metabolic resuscitation and appropriately timed surgical intervention – is essential for optimizing outcomes.