Controversies concerning diagnostic guidelines for anomalies of the enteric nervous system: A report from the fourth International Symposium on Hirschsprung's disease and related neurocristopathies (original) (raw)
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A Practical Guide for the Diagnosis of Primary Enteric Nervous System Disorders
Journal of Pediatric Gastroenterology and Nutrition, 2013
Objective: Primary gastrointestinal neuropathies are a heterogeneous group of enteric nervous system (ENS) disorders that continue to cause difficulties in diagnosis and histological interpretation. Recently, an international working group published guidelines for histological techniques and reporting, along with a classification of gastrointestinal neuromuscular pathology. The aim of this article was to review and summarize the key issues for pediatric gastroenterologists on the diagnostic workup of congenital ENS disorders. In addition, we provide further commentary on the continuing controversies in the field. Results: Although the diagnostic criteria for Hirschsprung disease are well established, those for other forms of dysganglionosis remain ill-defined. Appropriate tissue sampling, handling, and expert interpretation are crucial to maximize diagnostic accuracy and reduce interobserver variability. The absence of validated age-related normal values for neuronal density, along with the lack of correlation between clinical and histological findings, result in significant diagnostic uncertainties while diagnosing quantitative aberrations such as hypoganglionosis or ultrashort Hirschsprung disease. Intestinal neuronal dysplasia remains a histological description of unclear significance. Conclusions: The evaluation of cellular quantitative or qualitative abnormalities of the ENS for clinical diagnosis remains complex. Such analysis should be carried out in laboratories that have the necessary expertise and access to their own validated reference values.
Hirschsprung disease and other intestinal neuropathies in children
2020
Proper intestinal motility depends on interaction between muscles, nerve cells, and tendinous connective tissue of muscularis propria. Intestinal motility disorders refer to varied intestinal neuromuscular pathologies, including enteric neuropathies. The most common symptoms of these diseases are delayed passage of meconium in newborns and chronic constipation in infants and older children. If organic causes of clinical features are detected, a further multidisciplinary team approach for the management of these patients is recommended. Entities discussed in this review include Hirschsprung disease, hypoganglionosis, intestinal neuronal dysplasia, ganglioneuromatosis, and chronic intestinal pseudo-obstruction. Emphasis is given to the clinical symptoms and diagnostic features that distinguish these conditions enabling faster diagnosis and appropriate treatment.
Light and electronmicroscopy of the bowel in an unusual form of Hirschsprung's Disease
APMIS, 1989
In a histological and histochemical study of multiple biopsies of unaffected segments of the bowel from 15 patients with Hirschsprung's Disease (H.D.). the AChE or non-specific esterase and the NADPH tetrazolium reductase enzyme reactions proved to be useful in identification of myenteric plexus islands; and acid phosphatase for the delineation of individual neurones. In the affected segment (usually aganglionic), this myenteric plexus tissue was not reactive for esterase, but individual nerve fibres among muscle fibres of the two muscle coats showed the enzyme product in a third of the cases. Fine structural study of biopsies from a typical case of H.D.. showed normal looking axons and Schwann cytoplasm with terminals bearing both andrenergic and cholinergic vesicles in the unaffected colon, smooth muscle fibres with normal fine structure in all parts of the bowel. and loss of neurones with myenteric plexus replaced by nerve fibre groups in the affected rectosigmoid. One patient clinically presenting as a case of severe H.D., with histologically and histochemically normal myenteric and submucous ganglion cells, and not responding to resection of the bowel. showed degeneration of the unmyelinated axons with prominent Schwann cytoplasm, depleted cholinergic but persistent adrenergic vesicles, and markedly thinned and degenerating smooth muscle fibres and myofilaments, suggesting either a primary disorder of muscle tissue of the colon or. less likely. a denervation atrophy with secondary degeneration of the smooth muscle fibres.
ASOP 21 RW 306 hirschsp dis CORRECTED
An Update on the Insight of Embryonic, Etiopathogenesis, Current Surgical Advances Besides the Advocated ERNICA Guidelines for the Management of Rectosigmoid Hirschsprung Disease, and Clinical Referral Score Model for Early Diagnosis with Future Use of Stem Cells - A Systematic Review, 2021
Hirschsprung disease (HSCR), represents a neurocristopathy, secondary to impairment in migration, proliferation, differentiation in addition to survival of the neural crest cells resulting in gut agangliosis. Its presentation is usually just following birth having an impact on 1/5000 live births all over the world. a significant enhancement in our insight with regards to genetics in addition to correlation with congenital anomalies, possessing a common etiopathogenetic mode of impairment of the generation of neural crest. Besides that various kinds of cell populations like Mast Cells as well as Interstitial cells of Cajal that do not take origin from the neural crest, yet aid In the generation of HSCR have got detailed. further scientists have Concentrated on the variants of HSCR, that might simulate the Clinical signs but are separate conditions, that possess different treatment strategies in addition to separate prognosis. Thus we decided to conduct a systematic review, where we utilized the search engine pubmed, google scholar; web of science; embase; Cochrane review library utilizing the MeSH terms like embryonic; Early Diagnosis; enteric nervous system; neural crest cells; Vagal; agangliosis; hypogangliosis; dysgangliosis; receptor tyrosine kinase RET in ENS migration; Retinoic acid; congenital-hypothyroidism; thymus; Mast Cells; Interstitial cells of Cajal; associated congenital anomalies; pseudo-Hirschsprung disease animal studies; human studies; genetics; stem cells; induced pluripotent stem cells (iPSCs) variant HSCR; from 1985 to 2021 till date. We found a total of 10, 000 articles out of which we selected 67 articles for this updated review. No meta-analysis was done. thus early Diagnosis is essential, with surgical removal of the aganglioic area of the intestine. of Transanal endorectal pull-through (TEPT) is believed to be the better procedure yet several patients experience continuation of symptoms patients. Thus we have tried to discuss the future enhancement of results with the utilization of stem cells, induced pluripotent stem cells (iPSCs) in addition to tissue engineering for aid for the ones that experience recurrence In 30-50% post surgery.
Revista Colombiana De Gastroenterologia, 2011
Although constipation is common in children, most children have no structural disease, and only a small percentage of them have an organic cause for diseases such as intestinal dysganglionosis. Of these the most common is Hirschsprung's disease (HD), a disorder of the enteric nervous system's development characterized by the absence of ganglion cells in the distal colon that causes functional obstruction. A diagnosis is established by rectal biopsy which requires surgery. In Colombia there are no clear guidelines for the study of these patients. This results in late diagnoses of almost half of the children with HD after one year of age. This article proposes recommendations and management guidelines for both the surgeon and the pathologist in an attempt to facilitate the study of patients with symptoms of constipation and suspected aganglionosis.
Journal of Pediatric Surgery, 1993
Despite technically satisfactory operations, at least 20% of children with Hirschsprung's disease have an unsatisfactory postoperative result. A possible explanation for their symptoms is the retention of ganglionic intestine which has demonstrable abnormalities of the enteric nervous system. The distribution of intestinal neural proteins and peptides in resected colons from patients with Hirschsprung's disease (n = 10) was compared with that in normal controls (n = 5). lmmunocytochemistry was performed using antisera against general markers of the enteric nervous system (PGP 9.5, NSE, NFILs, and S-100 protein) and colonic neuropeptides (VIP, GAL, SP, NPY, CGRP, and Met-ENK). The distribution and density of peptide-containing nerve fibers varied greatly from one patient to another and no consistent pattern of neural disturbances could be discerned in aganglionic colon. At the proximal limit of resection, abnormalities of enteric innervation were detected in 8 of 10 studied specimens. Although ganglion cells staining positively for general neuronal markers were present in all cases, normal populations of neural cell bodies immunoreactive for neuropeptides could be found in only 2 specimens. Enlarged submucosal nerve trunks found in the most proximal area of most specimens, displayed immunoreactivity for general nerve markers and VIP, GAL, NPY. and CGRP. The widely practised conventional histopathological assessment of the proximal limit of colonic neural abnormalities may be inadequate.
World Journal of Gastrointestinal Pharmacology and Therapeutics, 2016
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.