Abstract

Background: Total Intestinal Aganglionosis is an extremely rare variant of Hirschsprung’s disease (HD). Studies based on this malady are limited in literature, due to its rarity and its ability to masquerade as other surgical pathologies, thereby delaying and often preventing its correct diagnosis. This is a case series that describes its three varied presentations and subsequent management of it.

Method: Retrospective observational study in a tertiary care centre in India. Clinical and operative data was retrospectively assessed from records from 2016 till 2023.

Results: All three cases caused initial diagnostic dilemma- First case was diagnosed as meconium ileus and underwent Bishop Koop ileostomy. Second case was diagnosed as type I jejunal atresia and underwent resection anastomosis. Third case was suspected to be small bowel HD and underwent leveling jejunostomy. Multiple laparotomies were needed for all three cases, as there was no clinical improvement with first laparotomy. Histopathology proved to be crucial in clinching the final diagnosis of total intestinal aganglionosis. Ziegler’s myotomies were found to be effective for the first case, albeit for a brief period.

Conclusion: Total Intestinal Aganglionosis is a rare entity that can masquerade as other surgical conditions in neonates leading to delayed or missed diagnosis. Routine biopsy can be taken in suspicious cases to rule out this ominous pathology. Autologous intestinal reconstructive procedures along with intestinal rehabilitation may become the ideal solution to this deadly masquerader, in the long run.

Keywords: total intestinal aganglionosis, Hirschsprung's disease, Ziegler's myotomy, autologous intestinal reconstruction, total parenteral nutrition.