Diffuse intestinal ganglioneuromatosis in a child

Abstract

A 7 year old male with a history of congenital neutropenia and growth hormone deficiency presented with abdominal pain, fevers, and diarrhea. Imaging and endoscopy revealed significant inflammation of the ascending colon with stenosis at the level of the hepatic flexure. A right hemicolectomy was performed, and pathologic findings were consistent with diffuse intestinal ganglioneuromatosis. Due to recurrent mass effect at the intestinal anastomotic site detected radiologically, a second intestinal resection was performed 7 months later. Genetic testing was negative for mutations in the RET protooncogene, NF1 and PTEN tumor suppressor genes. We report a case of diffuse intestinal ganglioneuromatosis in a child with congenital neutropenia.

Intestinal Ganglioneuromatosis with Peri-intestinal Neurofibroma Limited to the Gastrointestinal Tract Clinically and Morphologically Mimicking Crohns Disease

“…They are more often diagnosed in the children, rarely seen in the adults with only individual cases being reported in the literature [3,4].…”

“…It is divided into 3 subgroups: (1) Solitary polypoid ganglioneuromas characterized by solitary colonic polyps composed of spindle cells and ganglion cells mainly involving the mucosa and submucosa; (2) ganglioneuromatosis polyposis characterized by multiple small mucosal polyps comprised loose collections of mature ganglia involving the colon and terminal ileum, and (3) diffuse ganglioneuromatosis characterized by hyperplasia of the submucosal and myenteric nerve plexuses with infiltrative transmural proliferation of ganglioneuromatous tissue in the wall of the bowel, mainly involving the colon, terminal ileum, and appendix [2,3]. Intestinal ganglioneuromatosis presents with constipation, abdominal distension or intestinal obstruction within the 1 st few weeks of life and with chronic constipation, diarrhea or abdominal pain in the adults [4,5].…”

“…When nonspecific biopsy specimens are obtained in patients with suspected Crohn's disease or if the individuals fail to respond to medical therapy for Crohn's disease, the possibility of intestinal ganglioneuromatosis should be considered [2]. Histopathological examination of this entity shows numerous large abnormal nerve bundles in the submucosa with abnormally arranged ganglion cells [3]. Histological studies reveal benign tumors that contained welldifferentiated ganglion cells that are S-100 positive and nerve fibers [5].…”

“…Diffuse intestinal ganglioneuromatosis is associated with several disorders including NF-1, Cowden syndrome and MEN 2B [3]. This disorder may develop even in the absence of systemic diseases with the subsequent development of NF-1 or MEN 2B being unclear [1].…”

“…Intestinal ganglioneuromas are rare tumors more often identified in the adults as solitary polypoid ganglioneuromas, ganglioneuromatous polyposis, and diffuse ganglioneuromatosis, presenting with abdominal pain, diarrhea, thickening of the bowel wall and stricture formation. Diffuse ganglioneuromatosis is typically associated with multiple endocrine neoplasia (MEN), neurofibromatosis (NF) Type 1 and Cowden syndrome [3]. In this case report, we describe a case of diffuse and polypoid ganglioneuromatosis along with…”