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      Constipation with megacolon in a 36-year-old man: a rare presentation of MEN2B from Sri Lanka

      case-report

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          Abstract

          Diffuse intestinal ganglioneuromatosis is a rare condition associated with MEN2B. It is also seen in conditions like neurofibromatosis type 1 and Cowden syndrome. This is a report of a patient who underwent total colectomy with end ileostomy creation for a megacolon. He was diagnosed to have diffuse ganglioneuromatosis on histological examination of the resected segment of colon. The definitive management of diffuse ganglioneuromatosis is to resect and anastomose.

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          Intestinal ganglioneuromatosis and multiple endocrine neoplasia type 2B: implications for treatment.

          V V Smith, C. Eng, P Milla (1999)
          Three infants, who presented with intestinal obstruction due to diffuse transmural intestinal ganglioneuromatosis, are described. Mutation analysis of exon 16 of the RET proto-oncogene revealed germline M918T and thus, a molecular diagnosis of multiple endocrine neoplasia type 2B (MEN 2B). Two infants developed medullary carcinoma of the thyroid. The third had a prophylactic thyroidectomy despite no obvious thyroid masses and normal calcitonin concentrations, but microscopic multifocal medullary carcinoma was found on histological examination. Early recognition of intestinal ganglioneuromatosis with germline RET M918T mutation in pseudo-Hirschsprung's disease is an indication for prophylactic thyroidectomy.
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            Endoscopic treatment of ganglioneuroma of the colon associated with a lipoma: a case report

            Enrico Fiori, Chiara Pozzessere, Antonietta Lamazza … (2012)
            Introduction Ganglioneuromas are rare benign peripheral neuroblastic tumors characterized by hyperplasia of ganglion cells, nerve fibers, and supporting cells. They are not usually localized in the colon. Case presentation A 61-year-old Caucasian man was admitted to our department for colon cancer screening. A colonoscopy revealed a lipoma of 5cm in diameter, two micropolyps of less than 1cm, and one sessile polyp of 0.6cm in diameter. The polyps were removed with hot biopsy forceps. A histological examination revealed two hyperplastic polyps and one ganglioneuroma polyp. A follow-up colonoscopy showed no signs of recurrence after 16 months. Conclusions Although a few cases of lipomas associated with ganglioneuromatous syndrome have been reported, the association of an intestinal lipoma with an isolated ganglioneuroma polyp has not been described. The implications of this association are unknown.
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              Identification of intestinal ganglioneuromatosis leads to early diagnosis of MEN2B: role of rectal biopsy.

              Stefan Gfroerer, Till-Martin Theilen, Henning Fiegel … (2017)
              Gastrointestinal symptoms are very common in patients with multiple endocrine neoplasia type 2B (MEN2B) syndrome. Herein, we present a case of intestinal ganglioneuromatosis (IGN) in MEN2B syndrome and a systematic literature review with a special focus on gastrointestinal symptoms prior to the diagnosis of MEN2B.
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                Author and article information

                Journal
                Journal ID (nlm-ta): BMJ Case Rep
                Journal ID (iso-abbrev): BMJ Case Rep
                Journal ID (hwp): bmjcr
                Journal ID (publisher-id): bmjcasereports
                Title: BMJ Case Reports
                Publisher: BMJ Publishing Group (BMA House, Tavistock Square, London, WC1H 9JR )
                ISSN (Electronic): 1757-790X
                Publication date Collection: 2019
                Publication date (Electronic): 14 January 2019
                Publication date PMC-release: 14 January 2019
                Volume: 12
                Issue: 1
                Electronic Location Identifier: bcr-2018-227081
                Affiliations
                [1 ] departmentSurgery, University Surgical Unit , National Hospital of Sri Lanka , Colombo, Sri Lanka
                [2 ] departmentSurgery , University of Colombo Faculty of Medicine , Colombo, Sri Lanka
                Author notes
                [Correspondence to ] Dr Ashan Rabinath Fernando, ashan.fernando.4@ 123456gmail.com
                Author information
                http://orcid.org/0000-0002-0562-8564
                Article
                Publisher ID: bcr-2018-227081
                DOI: 10.1136/bcr-2018-227081
                PMC ID: 6340592
                PubMed ID: 30642858
                SO-VID: db995121-f7ba-49ff-a3a9-61c2d4a678b7
                Copyright © © BMJ Publishing Group Limited 2019. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.
                License:

                This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/

                History
                Date accepted : 13 December 2018
                Categories
                Subject: Rare Disease
                Subject: 1506
                Series title: Case Report
                Custom metadata
                special-feature unlocked

                Keywords: thyroid disease,gastrointestinal surgery
                Data availability:
                Keywords: thyroid disease, gastrointestinal surgery

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