Sporadic ganglioneuromatosis of esophagogastric junction in a patient with gastro-esophageal reflux disorder and intestinal metaplasia

Abstract

A 58-year-old female with a recurrent history of upper abdominal pain and intermittent dysphagia underwent endoscopic evaluation that demonstrated an irregular and nodular esophago-gastric (EG) junction and grade I erosive esophagitis. Biopsies showed prominent intestinal metaplasia of Barrett's type without dysplasia, chronic inflammation and multiple aggregates of large cells within the mucosal lamina propria, some with spindle shaped nuclei. Immunohistochemistry stains for keratins AE-1/AE-3 were negative, while S-100 and NSE were positive. This, together with routine stains, was diagnostic for mucosal ganglioneuromatosis. The background of chronic inflammation with intestinal type metaplasia was consistent with long-term reflux esophagitis. No evidence of achalasia was seen. Biopsies of gastric antrum and fundus were unremarkable, without ganglioneural proliferation. Colonoscopy was unremarkable. No genetic syndromes were identified in the patient including familial adenomatous polyposis and multiple endocrine neoplasia type IIb (MEN IIb). Iansoprazole (Prevacid) was started by oral administration each day with partial relief of symptoms. Subsequent esophagogastroscopy repeated at 4 mo showed normal appearing EG junction. Esophageal manometry revealed a mild non-specific lower esophageal motility disorder. Mild motor dysfunction is seen with gastro-esophageal reflux disease (GERD) and we feel that the demonstration of localized ganglioneuromatosis was not likely related etiologically. In the absence of findings that might suggest neural hypertrophy, such as achalasia, the nodular mucosal irregularity seen with this instance of ganglioneuromatosis may, however, have exacerbated the patient's reflux.

Sporadic diffuse gastric ganglioneuromatosis causing gastric outlet obstruction in an adult patient: A rare case report and literature review

“…2 Case report by Al-Rikabi AC et al described case presented with gastic outlet obstruction 6 similar to our case study whereas case study done by Siderits R et al, described reflex esophagitis as the presenting feature. 7 Gastric muscular mural hypertrophy and hyperplasia of nerve fibers may lead to stricture causing gastric outlet obstruction, as Al-Rikabi AC et al, found in their case described severe gastric outlet obstruction, most probably caused by a combination of muscular mural hypertrophy and hyperplasia of the myenteric plexus leading to stricture formation, 6 similar morphology seen in the present case study as well.…”

Diffuse ileal ganglioneuromatosis mimicking a gastrointestinal stromal tumor

“…Patients with polypoid ganglioneuroma are not associated with NF1, MEN2b or other genetic syndromes. [10] The second type, ganglioneuromatous polyposis is characterized by numerous (more than 20) mucosal and/or submucosal polyps with a sessile or pedunculated form, and is predominately located in the colon and terminal ileum. [11] Ganglioneuromatous polyposis can be isolated or associated with one of the following syndromes: MEN2b, NF1, Cowden disease, non-familial colic polyposis or juvenile polyposis.…”

Neurofibroma discharged from the anus with stool: A case report and review of literature

“…The differing clinical symptoms found in neurofibromatosis of the hindgut tract depend on the lesion characteristics, such as the location, motility, and adjacent structures of the affected tract. Clinical presentation of the lesions can be abdominal pain[ 4 ], gut obstruction[ 6 , 7 ], palpable masses[ 8 ], constipation[ 9 ], or diarrhea[ 10 ].…”