Case Report
Copyright ©The Author(s) 2019. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastrointest Surg. Feb 27, 2019; 11(2): 101-111
Published online Feb 27, 2019. doi: 10.4240/wjgs.v11.i2.101
Acquired segmental colonic hypoganglionosis in an adult Caucasian male: A case report
Allan MF Kwok, Andrew B Still, Kimberly Hart
Allan MF Kwok, Andrew B Still, Department of Surgery, Wollongong Hospital, Wollongong NSW 2500, Australia
Kimberly Hart, Department of Anatomical Pathology, Wollongong Hospital, Wollongong NSW 2500, Australia
Author contributions: Kwok AM and Still AB were the patient’s treating surgeons, reviewed the literature and contributed to manuscript drafting. Hart K was the pathologist who prepared the anatomical specimen and histopathological report and provided macroscopic and microscopic images for review.
Informed consent statement: Consent was obtained directly from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflicts of interest.
CARE Checklist (2016) statement: The authors have read the CARE checklist (2016), and the manuscript was prepared and revised according to the CARE checklist (2016).
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is 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/
Corresponding author: Allan MF Kwok, BSc MBBS FRACS, Colorectal Fellow, Department of Surgery, Wollongong Hospital, Locked Bag 8808, South Coast Mail Centre, Wollongong NSW 2521, Australia. amf.kwok@gmail.com
Telephone: +61-2-42225000 Fax: +61-2-42551337
Received: January 16, 2019
Peer-review started: January 17, 2019
First decision: January 26, 2019
Revised: February 1, 2019
Accepted: February 21, 2019
Article in press: February 22, 2019
Published online: February 27, 2019
Abstract
BACKGROUND

Hypoganglionosis is a rare condition that most often presents with abnormal gastrointestinal transit and usually arises in early childhood or adolescence. Two types have been described (Type I and Type II). The adult-onset form (acquired hypoganglionosis) is extremely uncommon and is thought to arise due to cellular remodelling as a result of chronic inflammation. It differs from Hirschprung’s disease in that there is a reduction in ganglion cells in the colonic neural plexuses as opposed to being completely absent.

CASE SUMMARY

A 31 year-old male presented to hospital with recurrent abdominal pain and vomiting over thirteen months. Abdominal computed tomography scans demonstrated thickening and stranding affecting the transverse, descending and sigmoid colon. Endoscopic appearances were non-specific but confirmed a mixed picture of mucosal inflammation and necrosis in various stages of healing. Numerous investigations were performed to elucidate an underlying aetiology but neither an infective nor ischaemic cause could be proven. Biopsy features were not typical of inflammatory bowel disease. Due to persistence of his symptoms and failure of medical management, a segmental colectomy was performed. Histological examination of the specimen revealed an unexpected finding of segmental hypoganglionosis. Complete surgical excision of the diseased segment of colon was curative and since his operation the patient has had no recurrence of symptoms requiring hospitalisation.

CONCLUSION

Our case serves to raise awareness of acquired hypoganglionosis as a rare condition that can result from chronic colitis.

Keywords: Acquired hypoganglionosis, Hirschprung’s disease, Adult, Ganglion cells, Acetylcholinesterase, Calretinin, Case report

Core tip: We describe the rare case of a 31 year-old man who presented with severe abdominal pain, haematochezia and a recent change in bowel habits who was found to have colitis affecting the transverse, descending and sigmoid colon on computed tomography. Despite an exhaustive panel of investigations no definite cause could be found for this. Partial colectomy was performed due to failure of medical management and histological examination revealed segmental hypoganglionosis. Previous reports in the literature have proposed the possible role of infective, autoimmune or ischaemic conditions in inciting a pathological chronic inflammatory response with resultant ganglionic destruction.