Case report reveals diagnostic challenges in infants with gastrointestinal duplications, suggesting timely intervention is essential.
Introduction and importance: Gastrointestinal duplication cysts are rare congenital anomalies, usually solitary and most often involving the ileum and esophagus. Multiple non-contiguous duplications are exceptionally uncommon and may mimic more frequent neonatal thoracic or abdominal conditions. Case presentation: We report a term female neonate with a prenatal suspicion of congenital pulmonary airway malformation. Postnatally, she developed respiratory distress due to a large thoracic cyst, which was resected thoracoscopically and confirmed to be an esophageal duplication cyst. Weeks later, recurrent melena and anemia prompted re-evaluation. A Tc-99m pertechnetate scan suggested Meckel’s diverticulum, but laparoscopy revealed a 35 cm tubular ileal duplication with intestinal non-rotation. Resection and Ladd’s procedure were performed, with an uneventful recovery. Histopathology demonstrated gastric metaplasia and pancreatic heterotopia. Clinical discussion: This case highlights the diagnostic difficulty of non-contiguous foregut and midgut duplications presenting metachronously with respiratory distress and gastrointestinal bleeding. Ultrasound remains the preferred first-line modality, with CT, MRI, and Tc-99m pertechnetate scintigraphy used selectively. Complete excision is generally recommended, while suspected residual ectopic gastric mucosa may justify temporary acid suppression and close surveillance when the child is stable and reoperation is not immediately indicated. Conclusions: Gastrointestinal duplications should be considered in neonates with unexplained respiratory or gastrointestinal symptoms, particularly when associated anomalies are present. Multimodal imaging, timely surgery, and structured follow-up are important to prevent recurrent bleeding, obstruction, or other complications.
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Anzinger et al. (2026) studied this question.