An Infant with Cachexia and Immature Ganglionic Colon: A Case Report of Highlighting Successful Patient Management with an Innovative Bowel Training Adaptation Program
Pornsri Thanachatchairattana¹, Paul D Losty¹,²
Affiliation : ¹ Division of Pediatric Surgery, Department of Surgery, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand; ² Institute of Systems, Molecular and Integrative Biology, University of Liverpool, Liverpool, United Kingdom
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.
Received 25 January 2024 | Revised 7 August 2024 | Accepted 13 September 2024
DOI: 10.35755/jmedassocthai.2025.2.157-164-00675
Keywords : Hirschsprung disease; Immature ganglion cell innervation; Intestinal malfunction; Santulli stoma
