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

Abstract

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. 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. 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.