Advanced esophageal adenocarcinoma in a pediatric patient with Down syndrome: a rare case report and literature review.

INTRODUCTION

Down syndrome (DS) is associated with a reduced incidence of solid tumors compared with the general population, a phenomenon hypothesized to be related to the overexpression of genes on chromosome21, including DSCR1. Esophageal adenocarcinoma is extremely rare in pediatric patients, with a near-zero incidence before age 30.

CASE PRESENTATION: A 15-year-old male with DS presented with progressive dysphagia, odynophagia, and a 5-kg weight loss over 3 months. Imaging revealed a 12-cm esophageal mass with metastatic lymphadenopathy and splenic lesions. Endoscopy showed an obstructing, ulcerated tumor, with biopsies confirming a poorly differentiated, stage IV adenocarcinoma (presumed T4aN3M1). Stenting failed due to a tight, angulated stricture with a pinpoint lumen; a radiologically inserted gastrostomy (RIG) was placed for enteral nutrition. The patient declined chemotherapy and radiotherapy, opting for symptomatic relief only. He died 4 months after the initial presentation from respiratory complications and metabolic derangements.

CLINICAL DISCUSSION: This case represents the fourth reported instance of esophageal cancer in DS patients, underscoring the diagnostic dilemma posed by its rarity. Whether the uniformly advanced stage at presentation reflects diagnostic delay or an inherently aggressive tumor biology remains unclear. Regardless, clinicians must maintain suspicion for malignancies in DS patients with persistent gastrointestinal symptoms.

CONCLUSION

This case challenges the assumption that DS is presumed to confer protection against esophageal adenocarcinoma. Persistent dysphagia or unexplained weight loss in patients with DS warrants early endoscopic evaluation. When stenting fails due to impassable strictures, RIG provides a safe alternative for enteral nutrition and palliative care. Clinicians must maintain a high index of suspicion for rare malignancies, even in low-risk populations.