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Pediatric Surgery International
Published in: Pediatric Surgery International 3/2017

01-03-2017 | Review Article

Advances in understanding functional variations in the Hirschsprung disease spectrum (variant Hirschsprung disease)

Author: S. W. Moore

Published in: Pediatric Surgery International | Issue 3/2017

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Abstract

Hirschsprung disease (HSCR) is a fairly well understood congenital, genetically based functional obstruction due to the congenital absence of ganglion cells in the distal bowel. However, although over 90% of Hirschsprung cases conform to the normally accepted histological diagnostic criteria, it has become increasingly clear that in addition to HSCR, there is a group of functional disturbances relating to a number of other congenital neurodysplastic conditions causing some degree of gastrointestinal tract malfunction. Although these represent a variety of possibly separate conditions of the enteric nervous system, this spectrum it would appear to be also influenced by similar developmental processes. The term “variant Hirschsprung” is commonly used to describe these conditions, but ganglion cells are mostly present if abnormal in number and distribution. These conditions are a problem group being amongst the most difficult to diagnose and treat with possible practical and legal consequences. The problem appears to be possibly one of definition which has proven difficult in the relative paucity of normal values, especially when correlated to age and gestation. It is the purpose of this paper to review the current position on these conditions and to explore possible shared common pathogenetic and genetic mechanisms. This article explores those conditions where a similar pathogenetic mechanisms to HSCR can be demonstrated (e.g. hypoganglionosis) as well as other neural features, which appear to represent separate conditions possibly linked to certain syndromes.
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Metadata
Title
Advances in understanding functional variations in the Hirschsprung disease spectrum (variant Hirschsprung disease)
Author
S. W. Moore
Publication date
01-03-2017
Publisher
Springer Berlin Heidelberg
Published in
Pediatric Surgery International / Issue 3/2017
Print ISSN: 0179-0358
Electronic ISSN: 1437-9813
DOI
https://doi.org/10.1007/s00383-016-4038-3

Other articles of this Issue 3/2017

Pediatric Surgery International 3/2017 Go to the issue

Case Report

Urachal remnant presenting as a giant, cystic umbilical cord

Original Article

Regional block via continuous caudal infusion as sole anesthetic for inguinal hernia repair in conscious neonates

Technical Innovation

Use of intraoperative lateral pelvic X-ray to localize and ensure coccyx removal during sacrococcygeal teratoma resection

Original Article

Ultrasound-guided core needle biopsy in the diagnosis of neuroblastic tumors in children: a retrospective study on 83 cases

Original Article

Re-evaluation of liver transaminase cutoff for CT after pediatric blunt abdominal trauma

Original Article

Outcomes following sclerotherapy for mucosal rectal prolapse with oily phenol injection: single-centre review