Delayed diagnosis and management of adult Hirschsprung's disease: Case report and literature review.

• Tác giả: Iyad Al Jada, Wasef Alhroub, Rosol Iwaiwi, Maaweya Jabareen, Thkra Meshal, Mohammad Zeidan
• Ngôn ngữ: eng
• Thông tin xuất bản: Netherlands : International journal of surgery case reports , 2025
• Bộ sưu tập: NCBI
• ID: 731944

Tóm tắt

BACKGROUND: Hirschsprung's disease (HD) is a congenital disorder that is primarily diagnosed in infancy. Adult presentations are extremely rare and often result in delayed diagnosis and management challenges. CASE PRESENTATION: A 27-year-old male with a history of chronic constipation presented with acute bowel obstruction after two weeks of failed stool passage despite repeated enemas. Physical examination revealed abdominal distension and absent bowel sounds. Urgent laparotomy demonstrated significant colonic dilation extending from the rectum to the cecum. A panproctocolectomy with ileostomy was performed, and postoperative biopsy confirmed HD. The patient recovered well and was discharged five days postoperatively. DISCUSSION: Adult-onset HD is challenging to diagnose due to its atypical presentations. A review of 27 adult cases reveals that chronic constipation and obstruction are common symptoms, underscoring the importance of considering HD in similar presentations to prevent severe complications such as toxic megacolon and volvulus. CONCLUSION: This case highlights the need for high suspicion of HD in adults with chronic constipation and obstruction. Early diagnosis and intervention can significantly improve outcomes and prevent complications.