Diffuse ileal ganglioneuromatosis mimicking a gastrointestinal stromal tumor: A case report

RATIONALE: Intestinal ganglioneuromatosis (IGNM) is a rare disease, defined by an abnormal proliferation of ganglion cells, nerve fibers and Schwann cells in the enteric nerve system. PATIENT CONCERNS: A 54-year-old woman presented with a one-year history of recurrent episodes of hypogastric pain, with vomiting, nausea, melena, and weight loss of 10 kg in recent 5 months. DIAGNOSES: The patient was diagnosed as a diffuse IGNM by pathological examination. INTERVENTIONS: A complete excision of the tumor was performed. OUTCOMES: On follow-up after 26 months, the patient was asymptomatic without complications. LESSONS: This report showed a rare case of diffuse IGNM not associated with NF1 or MEN2b. Preoperative radiological examination suggested an intestinal GIST, yet the final diagnosis of diffuse IGNM was made according to the pathological examination of the resected specimen. Although the prevalence of ganglioneuromatosis is low, this condition should be considered in the differential diagnosis of intestinal mass in adults.