Diffuse ileal ganglioneuromatosis mimicking a gastrointestinal stromal tumor

Abstract

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.

Diffuse Intestinal Ganglioneuromatosis: A Case Report with Review of Literature

“…Intestinal ganglioneuromatosis is a neoplastic disease characterized by an important proliferation of Schwann cells, nerve fibers and ganglion cells in the intestinal wall [1][2][3][4][5][6]. It is a very rare condition that can occur in any part of the gastrointestinal tract [2,5].…”

“…The most common parts that can be affected by the disease are the ileum, colon and appendix [2,5]. It is frequently seen in children and found equally in both sexes [6].…”

“…This condition was divided into 3 types according to Shekita and Sobin in 1994: Polypoid ganglioneuroma, ganglioneuromatous polyposis, and diffuse ganglioneuromatosis [2,5,6]. The first one can present as a abdominal pain, constipation, and vomiting of several days duration.…”

“…A diffuse intra or transmural lesions with myenteric plexus hyperplasia characterize the last type. This condition can be associated with tuberous sclerosis, Cowden disease, MEN2b, NF1 or juvenile polyposis [2,6].…”

“…Intestinal ganglioneuromatosis can present in variable clinical pictures, according to the extent of the lesion and on its location [2,5,6]. The patient can experience abdominal pain, stricture formation, change in bowel habits and can even present with iron deficiency anemia secondary to the ulceration of the mucosa [5].…”