EC Paediatrics

Introduction: The condition, known as total colonic aganglionosis (TCA), is a rare variant of Hirschsprung’s (HSCR) disease, which affects the entire colon with aganglionosis. Incontinence poses the primary challenge after a total colectomy. This case report highlights an unusual instance of TCA that resulted in a total colectomy for a 15-month-old patient, employing a modified technique that enhanced fecal continence.

Case Report and Discussion: A 9-month-old male patient was referred to our department with a diagnosis of HSCR for further treatment. From the patient’s history, an inability to feed, bilious vomiting, and failure to expel meconium were reported on the 1^st day of life. On the 21^st day of life, exploratory laparotomy was performed, revealing a stenosis 6 - 7 cm from the ileocecal valve. Full-thickness biopsies from the ileum, transverse, and descending colon were sent to pathology. Appendectomy was performed, and the appendix was also sent for pathology. A loop ileostomy was created 10 cm from the ileocecal valve. The pathology report indicated a total lack of ganglion cells in each segment. At the age of 15 months, the primary surgical restoration was performed through a total colectomy with ileorectal anastomosis, retaining a small segment of aganglionic section to prevent incontinence. Prophylactic loop ileostomy reconstruction took place after rapid biopsies were sent during surgery. Ileostomy closure occurred after 3 months.

Conclusion: In such cases of HSCR urgent initial assessment with ileostomy is required. Keeping a small segment of aganglionic bowel could be a solution to the problem of incontinence.

 Keywords: Total Colonic Aganglionosis (TCA); Hirschsprung’s Disease (HSCR); Quality of Life (QoL)

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