An Infant with Cachexia and Immature Ganglionic Colon: A Case Report of Highlighting Successful Patient Management with an Innovative Bowel Training Adaptation Program

Background: Immature ganglionic colon is best characterized and defined as a variant form of Hirschsprung disease according to the diagnostic criteria from the Japanese Study Group of allied disorders of Hirschsprung disease proposed in 2015. In a systematic appraisal of recent guidelines (2022), insufficient information and guidance exists regarding the best practice management of such patients. Case Report: A 3-month-old female in-vitro fertilized monozygotic twin born at 30 weeks’ gestation with birthweight of 1,162 grams was referred to a university pediatric surgical center with cachexia and gross abdominal distension and later found to have biopsy-proven immature ganglionic colon. Utilizing a Santulli stoma, the infant’s gut was repeatedly challenged with an individualized bowel training program resulting in full functional recovery crucially avoiding a permanent stoma and/or resectional pull through operation, which is a definitive surgical procedure for Hirschsprung disease. Conclusion: The present case report highlights pertinent clinical features that may help guide timing of re-biopsy, showing crucially that intestinal ganglion cells can mature, and the pivotal and key collaborative role of pathology services can help guide definitive practice management aided by bowel training.