Intestinal ganglioneuromatosis of the ileum and colon in a pediatric patient: a case report associated with Noonan syndrome

Abstract

Intestinal ganglioneuromatosis (GNM) is a rare condition classified among gastrointestinal motility disorders, which are commonly associated with chronic constipation. This entity predominantly affects pediatric patients, often in the context of systemic syndromes. We report the case of a 6-year-old male who presented with abdominal pain, vomiting, and constipation. Following surgical intervention, histopathological examination of the resected intestinal segment confirmed the diagnosis of GNM. Subsequent genetic evaluation revealed phenotypic features consistent with Noonan syndrome. In pediatric patients, constipation remains one of the most challenging disorders to manage. In cases of GNM, it is essential to assess potential associations with genetic syndromes, given their known predisposition to tumorigenesis. To the best of our knowledge, this is the first reported case describing an association between Noonan syndrome and intestinal ganglioneuromatosis.