Review
Copyright ©The Author(s) 2016. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastrointest Pharmacol Ther. Aug 6, 2016; 7(3): 397-405
Published online Aug 6, 2016. doi: 10.4292/wjgpt.v7.i3.397
Intestinal neuronal dysplasia type B: A still little known diagnosis for organic causes of intestinal chronic constipation
Pedro Luiz Toledo de Arruda Lourenção, Simone Antunes Terra, Erika Veruska Paiva Ortolan, Maria Aparecida Marchesan Rodrigues
Pedro Luiz Toledo de Arruda Lourenção, Erika Veruska Paiva Ortolan, Department of Surgery and Orthopedics, Botucatu Medical School - Unesp, Botucatu, São Paulo 18618-687, Brazil
Simone Antunes Terra, Maria Aparecida Marchesan Rodrigues, Department of Pathology, Botucatu Medical School - Unesp, Botucatu, São Paulo 18618-687, Brazil
Author contributions: Toledo de Arruda Lourenção PL analysed and interpretated the data, drafted the initial manuscript and revised the article critically; Terra SA performed the collected the data and draft the initial manuscript; Ortolan EVP draft the initial manuscript; Rodrigues MAM analysed and interpreted the data, drafted the initial manuscript and revised critically.
Supported by São Paulo Research Foundation (FAPESP), No. 2014/042271-1.
Conflict-of-interest statement: Authors declare no conflict of interests for this article.
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: Pedro Luiz Toledo de Arruda Lourenção, Professor of Pediatric Surgery, Department of Surgery and Orthopedics, Botucatu Medical School - Unesp, Av. Prof. Montenegro, Distrito de Rubião Junior, s/n, Botucatu, São Paulo 18618-687, Brazil. lourencao@fmb.unesp.br
Telephone: +55-14-38801703 Fax: +55-14-38801669
Received: February 14, 2016
Peer-review started: February 15, 2016
First decision: March 31, 2016
Revised: April 14, 2016
Accepted: May 7, 2016
Article in press: May 9, 2016
Published online: August 6, 2016
Processing time: 168 Days and 15.9 Hours
Abstract

Intestinal neuronal dysplasia type B (IND-B) is a controversial entity among the gastrointestinal neuromuscular disorders. It may occur alone or associated with other neuropathies, such as Hirschsprung’s disease (HD). Chronic constipation is the most common clinical manifestation of patients. IND-B primarily affects young children and mimics HD, but has its own histopathologic features characterized mainly by hyperplasia of the submucosal nerve plexus. Thus, IND-B should be included in the differential diagnoses of organic causes of constipation. In recent years, an increasing number of cases of IND-B in adults have also been described, some presenting severe constipation since childhood and others with the onset of symptoms at adulthood. Despite the intense scientific research in the last decades, there are still knowledge gaps regarding definition, pathogenesis, diagnostic criteria and therapeutic possibilities for IND-B. However, in medical practice, we continue to encounter patients with severe constipation or intestinal obstruction who undergo to diagnostic investigation for HD and their rectal biopsies present hyperganglionosis in the submucosal nerve plexus and other features, consistent with the diagnosis of IND-B. This review critically discusses aspects related to the disease definitions, pathophysiology and genetics, epidemiology distribution, clinical presentation, diagnostic criteria and therapeutic possibilities of this still little-known organic cause of intestinal chronic constipation.

Keywords: Intestinal neuronal dysplasia type B; Hyperplasia of the submucosal nerve plexus; Intestinal chronic constipation; Gastrointestinal neuromuscular diseases; Dysganglionosis

Core tip: Intestinal neuronal dysplasia type B (IND-B) is a controversial entity among the gastrointestinal neuromuscular disorders. Chronic constipation is the most common clinical manifestation of patients. IND-B primarily affects young children and mimics Hirschsprung’s disease, but has its own histopathologic features characterized mainly by hyperplasia of the submucosal nerve plexus. Despite the intense scientific research in the last decades, there are still knowledge gaps regarding IND-B. This review critically discusses aspects related to the disease definitions, pathophysiology and genetics, epidemiology distribution, clinical presentation, diagnostic criteria and therapeutic possibilities of this still little-known organic cause of intestinal chronic constipation.