Case report of a skip segment Hirschsprung's disease: A real phenomenon. (March 2021)

• Record Type: Journal Article
• Authors: El-Gohary, Yousef; Skerritt, Clare; Prasad, Vinay; Halaweish, Ihab; Wood, Richard J.
• Is Part Of: International journal of surgery case reports. Volume 80(2021)
• Publication Date: 2021-03
• Subjects: Hirschsprung's disease -- Skip segment -- Aganglionosis -- Case report; Surgery -- Periodicals; Surgical Procedures, Operative -- Periodicals; Surgery; Electronic journals; Periodicals; 617.005
• DOI: 10.1016/j.ijscr.2021.02.016
• Languages: English
• ISSNs: 2210-2612

Abstract

Highlights: Segmental Hirschsprung's is a rare phenomenon. Rare aganglionic segment involving only the small bowel. Trans-anal only pull-through is ill advisable. Abstract: Introduction and importance: Hirschsprung's disease is a congenital anomaly that results from an incomplete craniocaudal migration and maturation of intestinal ganglion progenitor cells leading to distal intestinal aganglionosis. Skip segment Hirschsprung's disease is an extremely rare phenomenon. We report a case involving only the small bowel with confirmed colonic ganglionosis. Case presentation: A case report of a 14-month-old with a skipped segment involving the distal 50 cm of the small bowel associated with colonic ganglionosis is presented. A current review of the literature is discussed. Clinical discussion: Our patient had persistent obstructive symptoms despite undergoing a technically good, ganglionic pull-through operation at an outside institution. A laparoscopic-assisted pull-through might have documented a small bowel wall diameter discrepancy. Conclusion: Although rare, skip segment Hirschsprung's disease is a real phenomenon that paediatric surgeons should be aware of and could involve small and large bowels.