Isolated intestinal Ganglioneuromatosis: case report and literature review

Abstract

Background Intestinal Ganglioneuromatosis (IG) is a rare disorder of the enteric nervous system. In pediatric age it is often associated with genetic syndromes such as Neurofibromatosis 1 (NF1), multiple endocrine neoplasia type 2B (MEN2B) and Cowden syndrome (PTEN mutation), and ganglioneuromas (GNs) may be sometimes the first sign of the disease. Isolated GNs are rare and sporadic. Clinical symptom vary and depend on the size and on the location of the GNs. This disorder affects intestinal motility and it, consequently, causes changes in bowel habits, abdominal pain, occlusive symptoms and rarely lower gastrointestinal bleeding secondary to ulceration of the intestinal mucosa. On the other hand, patients can remain asymptomatic for many years. Case presentation We describe a 9-year-old boy referred to our emergency department for right lower quadrant abdominal pain. No familial history for gastrointestinal disorders. No history of fever or weight loss. At physical examination, he had diffused abdominal pain. Abdominal ultrasonography showed a hypoechoic formation measuring 41.8 mm by 35 mm in the right lower quadrant of the abdomen. Routine blood tests were normal, but fecal occult blood test was positive. Abdominal TC confirmed the hypodense formation, of about 5 cm in transverse diameter, in the right hypochondrium that apparently invaginated in the caecum-last ileal loop. Colonoscopy showed in the cecum an invaginated polypoid lesion of the terminal ileal loop. Laparoscopic resection of the polypoid lesion was performed. Histological diagnosis of the large neoplasm observed in the terminal ileum was diffuse ganglioneuromatosis. NF1, RET and PTEN gene tests resulted negative for specific mutations. At the 1 year follow-up, the patient presented good general condition and blood tests, fecal occult blood test, esophagogastroduodenoscopy, colonoscopy and MR-enterography were negative. Conclusions Only few cases are reported in literature of IG in pediatric age. Although rare, the present case suggests that this disorder must be taken in consideration in every patient with GI symptoms such as abdominal pain, constipation, lower intestinal bleeding, in order to avoid a delayed diagnosis.

A Case Series of Pediatric Intestinal Ganglioneuromatosis With Novel Phenotypic and Genotypic Profile

“…The tumor cells of diffuse ganglioneuromatosis are nodular or diffusely proliferating, and they invade the intestinal wall and may be accompanied by the proliferation of the submucosa, myenteric nerve plexus, or even mesenteric nerve plexus ( 4 , 6 – 8 , 24 – 26 ). On IHC staining, Schwann cells express CD56, SOX10, and S-100, and ganglion cells express NSE, CD56, Syn, Calretinin, NeuN, and S-100 ( 6 , 8 , 12 , 19 , 20 , 25 – 27 ). According to the above criteria, 2 of our cases showed multiple colorectal polyps (≥ 20), and neurofibril and ganglion cell hyperplasia was detected in the juvenile polyps under the microscope; thus, they were diagnosed as ganglioneuromatous polyposis.…”

Incidental Delayed Diagnosis of Isolated Diffuse Ganglioneuromatosis Caused the Death of a 6-Year-Old Boy: Case Report

“…It may histologically be reminiscent of juvenile polyp, ergo an accurate differential diagnosis is required. 3 Ganglioneuromatous polyposis is generally characterized by more than 20 sessile or pedunculated discrete polyps. Such polyps can be filiform projections containing ganglion cells, or histologically undistinguishable from polypoid GNs.…”

“…Such polyps can be filiform projections containing ganglion cells, or histologically undistinguishable from polypoid GNs. 3 Lastly, diffuse ganglioneuromatosis is a rare, benign, disseminated or poorly demarcated nodular proliferation involving the myenteric plexus. 4 , 5 …”

“…Such polyps can be filiform projections containing ganglion cells, or histologically undistinguishable from polypoid GNs. 3 Lastly, diffuse ganglioneuromatosis is a rare, benign, disseminated or poorly demarcated nodular proliferation involving the myenteric plexus. 4,5 The latter form may affect any segment of the alimentary tract, even the small intestines, 2 but it is most commonly located in the colon, the terminal ileum, and the appendix.…”

Isolated diffuse intestinal ganglioneuromatosis presented as a redundant sigmoid colon: a case report

“…Ganglioneuromas (GNs) are hamartomatous tumors, arising from the adrenal glands or sympathetic ganglia. Rarely, they develop in the gastrointestinal (GI) tract, stemming from an enteric nervous system 1 .…”