Questioning the failure of neural crest cell migration theory in Hirschsprung's disease: A case report and literature review

INTRODUCTION: Segmental aganglionosis (the absence of ganglions) is a rare presentation of Hirschsprung's disease, whereby only limited segment/segments of aganglionic bowel is interposed between segments of innervated bowel, or "skip" area of normal innervations is present within an area of aganglionosis. PRESENTATION OF CASE: We reported a case of a 3 day old male newborn who presented with failure to pass meconium along with progressive abdominal distension. There were skip lesions present in between. Mikulicz double barrel enterostomy was carried out, which was followed by an uneventful postoperative period. Four months later, the patient was admitted for levelling biopsies which revealed the absence of ganglions in the terminal ileum as well as in the rectosigmoid junction. But the ganglions were present in between and proximal to the terminal ileum where the previously dilated small bowel segment was resected. This presentation was contradicted the most accepted migration theory of Hirschsprung's disease. DISCUSSION: As seen in our case, and in 21 other cases published between 1954-2016, we highly recommend that leveling/mapping biopsies should definitely include the cecal pole and the small bowel segments proximal to the ileocecal valve as well as the multilevel colonic biopsies down till the rectum. CONCLUSION: Reporting of these cases brings out interesting questions with respect to the pathogenesis and serves to highlight the existence of several variants within the spectrum of Hirschsprung's disease. (C) 2021 The Author(s). Published by Elsevier Ltd on behalf of IJS Publishing Group Ltd.