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Copyright ©The Author(s) 2015. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Pediatr. Nov 8, 2015; 4(4): 120-125
Published online Nov 8, 2015. doi: 10.5409/wjcp.v4.i4.120
Hirschsprung’s disease: Historical notes and pathological diagnosis on the occasion of the 100th anniversary of Dr. Harald Hirschsprung’s death
Consolato Sergi
Consolato Sergi, Department of Pediatrics, Stollery Children’s Hospital, Alberta T6G 2B7, Canada
Consolato Sergi, Department of Lab Medicine and Pathology, University of Alberta Hospital, Edmonton, Alberta T6G 2B7, Canada
Author contributions: Sergi C designed research, performed literature research, contributed to the analytic tools, analyzed data, and wrote the paper.
Conflict-of-interest statement: Dr. Sergi C is a “ad hoc” consultant of the World Health Organization (WHO)/International Agency for Research on Cancer (IARC) sitting in the panel as collaborator for the use of pesticides and cancer (IARC Monographs Volume 112: evaluation of five organophosphate insecticides and herbicides) and Carcinogenicity of perfluorooctanoic acid, tetrafluoroethylene, dichloromethane, 1,2-dichloropropane, and 1,3-propane sultone. Moreover, Dr. Sergi C. has received research funding from the Women and Children Research Institute, Saudi Cultural Bureau, and the Canada Foundation for Women’s Health (CFWH) (Award 2009: CFWH General Research Grant Dr. L. Hornberger and Dr. C. Sergi), and has received fees for serving as grant reviewer for the Health and Medical Research Fund (HMRF), Hong Kong Special Administrative Region, and as consultant for Guidepoint.
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/
Correspondence to: Consolato Sergi, MD, MSc, FRCPC, PhD, Professor, Department of Lab Medicine and Pathology, University of Alberta Hospital, Edmonton, 8440 112 St, Alberta T6G 2B7, Canada. sergi@ualberta.ca
Telephone: +1-780-4077951 Fax: +1-780-4073009
Received: May 7, 2015
Peer-review started: May 8, 2015
First decision: June 9, 2015
Revised: August 21, 2015
Accepted: September 10, 2015
Article in press: September 16, 2015
Published online: November 8, 2015
Processing time: 187 Days and 20.4 Hours
Abstract

Hirschsprung’s disease (HSCR) or congenital megacolon is one of the differential diagnoses of chronic constipation mostly in infancy and may indeed represent a challenge for pediatricians, pediatric surgeons, and pediatric pathologists. The diagnosis relies clearly on the identification of the absence of ganglion cells at the plexuses (submucosus and myentericus) of the bowel wall. HSCR is usually located at the terminal (distal) rectum with potential pre-terminal or proximal extension to the less distal large bowel (sigmoid colon). Astonishingly, there is some evidence that Hindu surgeons of prehistoric India may have been exposed and had considerable knowledge about HSCR, but this disease is notoriously and eponymously named to Dr. Harald Hirschsprung (1830-1916), who brilliantly presented two infants with fatal constipation at the Berlin conference of the German Society of Pediatrics more than one century ago. Historical milestones and diagnosis of HSCR (originally called “Die Hirschsprungsche Krankheit”) are reviewed. More than 100 years following his meticulous and broad description, HSCR is still a puzzling disease for both diagnosis and treatment. HSCR remains a critical area of clinical pediatrics and pediatric surgery and an intense area of investigation for both molecular and developmental biologists.

Keywords: Constipation; Analysis; Rectum; Medicine; Biopsy; History

Core tip: Medical history is fascinating and, since its beginning, it was meant to enlighten scientific issues, booster the medical profession, and celebrate the traditions or tales of particular places. Harald Hirschsprung, who presented two infants with fatal constipation at the German Society of Pediatrics more than one century ago, is known in medicine for his eponym of intestinal aganglionosis. Events running before and after Dr. Hirschsprung’s discovery may drive interest in medical students and doctors to review the diagnostic procedures of this intriguing disease and recognize the enormous input given from microscopy and pathology to this diagnosis.