Delayed presentation of type I jejunal atresia radiologically mimicking malrotation in an infant with Down syndrome and congenital heart disease: a case report
- 1Department of Pediatric Surgery, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
- 2Department of Surgery, School of Medicine, Ardabil University of Medical Sciences, Ardabil, Iran
- 3Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
Abstract
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.
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BibTeX
@article{abrishami2026delayed,
title = {{Delayed presentation of type I jejunal atresia radiologically mimicking malrotation in an infant with Down syndrome and congenital heart disease: a case report}},
author = {Mostafa Abrishami and Ali Samady Khanghah and Hossein Savadi and Abbas Boskabadi and Amir Hossein Sarsarabi and Khashayar Atqiaee},
journal = {International Journal of Surgery Case Reports},
year = {2026},
month = sep,
doi = {10.1097/rc9.0000000000001020},
url = {https://doi.org/10.1097/rc9.0000000000001020},
note = {CC BY-NC-ND 4.0},
}
RIS
TY - JOUR
TI - Delayed presentation of type I jejunal atresia radiologically mimicking malrotation in an infant with Down syndrome and congenital heart disease: a case report
AU - Mostafa Abrishami
AU - Ali Samady Khanghah
AU - Hossein Savadi
AU - Abbas Boskabadi
AU - Amir Hossein Sarsarabi
AU - Khashayar Atqiaee
PY - 2026
DA - 2026/09/23
JO - International Journal of Surgery Case Reports
DO - 10.1097/rc9.0000000000001020
UR - https://doi.org/10.1097/rc9.0000000000001020
AB - 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.
SN - 2210-2612
ER -