Total colonic aganglionosis with ileum extension Hirschsprung's disease in an adult: A case report

Mohamed Eltayeb Abdelrahman Naiem; Nadir Hilal; Mohamed Elfatih A Elgurashi; Suliman Hussein Suliman

doi:10.1016/j.ijscr.2022.106852

Total colonic aganglionosis with ileum extension Hirschsprung's disease in an adult: A case report

Int J Surg Case Rep. 2022 Mar:92:106852. doi: 10.1016/j.ijscr.2022.106852. Epub 2022 Feb 25.

Authors

Mohamed Eltayeb Abdelrahman Naiem¹, Nadir Hilal², Mohamed Elfatih A Elgurashi³, Suliman Hussein Suliman³

Affiliations

¹ Faculty of Medicine, University of Khartoum, Khartoum, Sudan. Electronic address: M-altayeb@live.com.
² Department of Gastrointestinal and Hepato-Pancreatic-Biliary Surgery, Ibn Sina Specialized Hospital, Khartoum, Sudan.
³ Faculty of Medicine, University of Khartoum, Khartoum, Sudan.

Abstract

Introduction: Hirschsprung's disease is a gastrointestinal anomaly affecting neuronal development and function. The primary abnormality is the absent ganglionic cells in the submucosal and myenteric neural plexuses. Disease presentation can vary, and patients may present with delayed meconium passage or late in adulthood. Total colonic aganglionosis is considered a rare subtype and even rarer to extend proximally into the small bowel. Therefore, adult Hirschsprung disease is frequently misdiagnosed as chronic constipation until comorbid events such as volvulus or perforation occur.

Case presentation: A 34 years South-Sudanese male presented with chronic constipation since early childhood, abdominal discomfort, pain, and distension. His bowel habits were infrequent, requiring occasional enemas. A strong family history of Hirschsprung disease was identified. He underwent total abdominal colectomy and end ileostomy. Postoperative diagnosis of TCA and small bowel extension of more than 50 cm was confirmed. The patient was discharged home after ileostomy education and possible future reconstruction.

Clinical discussion: Hirschsprung's ileal extension resembles a risk of morbidities and mortality. It increases as the segment extends proximally. No international consensus on surgical management. It should be tailored to patient condition, diseased segment length, and the possible definitive primary reconstruction. Our patient's surgical diversion considered the patient's long-standing constipation history and dilated fecal-loaded ileum.

Conclusion: TCA requires a high index suspension during the workup of chronic constipation patients. There is no reported superior surgical approach, and it depends on the institution's experience and surgeon's expertise. Primary reconstruction can be achieved, but we recommend an ileostomy for such cases.

Keywords: Adult Hirschsprung's disease; Aganglionic ileum extension; Case report; Total colonic aganglionosis; Zuelzer Wilson syndrome.