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Case report of a skip segment Hirschsprung's disease: A real phenomenon
Yousef El-Gohary1, Clare Skerritt2, Vinay Prasad3
1Department of Paediatric Surgery, Leeds Children's Hospital, Leeds, UK.
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.
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