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World J Gastroenterol. Nov 28, 2021; 27(44): 7649-7660
Published online Nov 28, 2021. doi: 10.3748/wjg.v27.i44.7649
Challenges in the diagnosis of intestinal neuronal dysplasia type B: A look beyond the number of ganglion cells
Simone Antunes Terra, Anderson Cesar Gonçalves, Pedro Luiz Toledo de Arruda Lourenção, Maria Aparecida Marchesan Rodrigues
Simone Antunes Terra, Maria Aparecida Marchesan Rodrigues, Department of Pathology, Faculty of Medicine, São Paulo State University (UNESP), Botucatu 18618687, São Paulo, Brazil
Anderson Cesar Gonçalves, Pedro Luiz Toledo de Arruda Lourenção, Department of Surgery and Orthopedics, Botucatu Medical School - São Paulo State University (UNESP), Botucatu 18618970, São Paulo, Brazil
Author contributions: Terra SA and Gonçalves AC collected and interpretated the data, drafted the initial manuscript and revised the article critically; Lourenção PLTA and Rodrigues MAM analysed and interpreted the data, drafted the initial manuscript and revised critically; all authors read and approved the final version of the manuscript.
Supported by Supported by São Paulo Research Foundation (FAPESP), No. 2017/26205-9.
Conflict-of-interest statement: Authors declare no conflict of interests for this article.
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (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: Pedro Luiz Toledo de Arruda Lourenção, MD, PhD, Associate Professor, Department of Surgery and Orthopedics, Botucatu Medical School - São Paulo State University (UNESP), Av. Prof. Montenegro, Distrito de Rubião Junior, Botucatu 18618970, São Paulo, Brazil. pedro.lourencao@unesp.br
Received: February 12, 2021
Peer-review started: February 12, 2021
First decision: April 18, 2021
Revised: April 26, 2021
Accepted: November 11, 2021
Article in press: November 11, 2021
Published online: November 28, 2021
Processing time: 285 Days and 13 Hours
Abstract

Intestinal neuronal dysplasia type B (IND-B) is a controversial condition among gastrointestinal neuromuscular disorders. Constipation is its most common clinical manifestation in patients. Despite intense scientific research, there are still knowledge gaps regarding the diagnostic criteria for IND-B in the histopathological analysis of rectal biopsies. The guidelines published in the past three decades have directed diagnostic criteria for quantifying the number of ganglion cells in the nervous plexus of the enteric nervous system. However, it is very complex to distinguish numerically what is pathological from what is normal, mainly because of the difficulty in determining a reliable control group composed of healthy children without intestinal symptoms. Thus, a series of immunohistochemical markers have been proposed to assist in the histopathological analysis of the enteric nervous system. Several of these markers facilitate the identification of other structures of the enteric nervous system, in addition to ganglion cells. These structures may be related to the etiopathogenesis of IND-B and represent new possibilities for the histopathological diagnosis of this disease, providing a view beyond the number of ganglion cells. This review critically discusses the aspects related to the disease definitions and diagnostic criteria of this organic cause of constipation.

Keywords: Intestinal neuronal dysplasia type B; Constipation; Diagnosis; Gastrointestinal neuromuscular diseases

Core Tip: There are knowledge gaps regarding the diagnostic criteria for intestinal neuronal dysplasia type B (IND-B) in the histopathological analysis of rectal biopsies. Several immunohistochemical markers have been proposed to identify other structures of the enteric nervous system, beyond the ganglion cells. These structures may be related to the etiopathogenesis of IND-B and represent new possibilities for the histopathological diagnosis of this disease. This review critically discusses the aspects related to the disease definitions and diagnostic criteria of this organic cause of constipation.