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Background <p>Hirschsprung disease (HD) is a congenital disorder caused by absence of ganglion cells in the submucosal (Meissner) and myenteric (Auerbach) plexuses of the intestine, resulting in functional obstruction. Most patients are diagnosed and treated in infancy; presentations in adolescence or adulthood are rare [<CitationRef AdditionalCitationIDS="CR2" CitationID="CR1">1</CitationRef>–<CitationRef CitationID="CR3">3</CitationRef>]. </p> Case Presentation <p> We report a 20-year-old male diagnosed with HD at 3 years of age who was lost to follow-up for 17 years. He presented with abdominal pain, progressive distension, and fecaloma obstructing a stenosed colostomy. As the lumen was occluded, contrast enema could not be performed. Histopathology confirmed aganglionosis of the rectosigmoid colon. The patient underwent a staged surgical approach: (1) resection of the dilated colon with leveling biopsies and colostomy revision, (2) rectosigmoidectomy with coloanal pull-through and protective ileostomy, and (3) extraperitoneal ileostomy closure. His postoperative course was uneventful. Initially, he experienced frequent stools and incontinence, which improved over five months. Preservation of the dentate line was confirmed intraoperatively. He reported satisfaction with bowel function and quality of life.</p> Conclusion <p>This case illustrates the challenges of delayed Hirschsprung disease management in low-resource settings. With appropriate staged surgery and structured follow-up, even late-presenting patients can achieve favorable outcomes. The report emphasizes the importance of patient education, social support, and continuity of care in congenital disorders.</p>

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Pull-through Operation in a Young Adult with Hirschsprung Disease after Seventeen Years of Lost Follow-up: A Case Report

  • 期刊论文

  • 发表日期：

    2025年12月6日

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  • Abdel Latif Khalifa Elnaim,
  • Eslah Ibrahim Ahmed Adam,
  • Mohammed Hassan Ali Elamash

摘要

Background

Hirschsprung disease (HD) is a congenital disorder caused by absence of ganglion cells in the submucosal (Meissner) and myenteric (Auerbach) plexuses of the intestine, resulting in functional obstruction. Most patients are diagnosed and treated in infancy; presentations in adolescence or adulthood are rare [1–3].

Case Presentation

We report a 20-year-old male diagnosed with HD at 3 years of age who was lost to follow-up for 17 years. He presented with abdominal pain, progressive distension, and fecaloma obstructing a stenosed colostomy. As the lumen was occluded, contrast enema could not be performed. Histopathology confirmed aganglionosis of the rectosigmoid colon. The patient underwent a staged surgical approach: (1) resection of the dilated colon with leveling biopsies and colostomy revision, (2) rectosigmoidectomy with coloanal pull-through and protective ileostomy, and (3) extraperitoneal ileostomy closure. His postoperative course was uneventful. Initially, he experienced frequent stools and incontinence, which improved over five months. Preservation of the dentate line was confirmed intraoperatively. He reported satisfaction with bowel function and quality of life.

Conclusion

This case illustrates the challenges of delayed Hirschsprung disease management in low-resource settings. With appropriate staged surgery and structured follow-up, even late-presenting patients can achieve favorable outcomes. The report emphasizes the importance of patient education, social support, and continuity of care in congenital disorders.