Symptoms, diagnosis, and therapy of neuronal intestinal dysplasia masked by Hirschsprung's disease

Fadda, B.; Pistor, G.; Meier‐Ruge, W.; Kap-herr, S Hofmann-von; Müntefering, Horst; Espinoza, Ricardo

doi:10.1007/bf00174177

Cited by 42 publications

(25 citation statements)

References 14 publications

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“…IND B combined with aganglionosis [5,10,15,17,19,25,34] is not morphologically different from isolated IND B. In 64 patients with Hirschsprung's disease and IND B, the biopsy diagnosis was generally made at 12_+6 months in comparison to 4+2 months in isolated Hirschsprung patients.…”

Section: Discussionmentioning

confidence: 99%

“…Such accompanying disorders are more frequently observed in older children and adults with primary chronic constipation. Surgical treatment depends on functional defects such as an absent recto-anal sphincter reflex [26,27,53] or a megacolon [10,54]. In adults with primary chronic constipation, characteristics of IND B can often be found in the submucosa [61,62].…”

Section: Discussionmentioning

confidence: 99%

“…It is a rare disease comprising less than 2% of all dysganglionoses [32,34,55]. IND B, characterized by abnormalities in the development of the submucosal plexus, is almost as frequent as Hirschsprung's disease [34] and has been the subject of many studies [5,10,15,40,46,47,48,49,56,57,58,59,60].…”

Section: Introductionmentioning

confidence: 99%

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Histopathological criteria for intestinal neuronal dysplasia of the submucosal plexus (type B)

Meier‐Ruge

Brönnimann

Gambazzi

et al. 1995

Vichows Archiv A Pathol Anat

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The aim of this study was to review critically the diagnostic features of intestinal neuronal dysplasia type B (IND B). Over a period of 5 years colonic mucosal biopsies of 773 children with symptoms of chronic constipation were examined. Four biopsies taken 2-10 cm above the pectinate line were cut in serial sections and histochemical lactate dehydrogenase, succinate dehydrogenase, (SDH) and acetylcholinesterase (AChE) reactions performed. Presence of giant ganglia of the submucosal plexus, being characterized by more than seven nerve cells, established the diagnosis of IND B. Giant ganglia were found to be age-independent changes, while hyperplasia of the submucosal plexus, increase of AChE activity in nerve fibres of the lamina propria and low SDH activity in nerve cells proved to be age-dependent findings which disappear during the maturation of the enteric nervous system. Using these criteria IND B was diagnosed in 209 children. In 64 of these patients a combination of IND B and aganglionosis (Hirschsprung's disease) was found. IND B seems to be related to premature expression of laminin A during embryogenesis, resulting in premature nerve cell differentiation in the myenteric and submucosal plexus, which in turn blocks neuroblast colonization of the rectum. IND B, hypoganglionosis and aganglionosis, which are often combined, may therefore be considered to be different manifestations of the same developmental abnormality.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Histopathological criteria for intestinal neuronal dysplasia of the submucosal plexus (type B)

Meier‐Ruge

Brönnimann

Gambazzi

et al. 1995

Vichows Archiv A Pathol Anat

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“…The significance of these fine AChE-staining neurofibrils in the lamina propria and muscularis mucosa remains unclear as they do not appear to be exclusive to HSCR and may indicate that the enteric nervous system (ENS) is more plastic than previously believed and that the neurofibrils represent an ongoing developmental process or situation of change within the ENS. This has led to much debate and has given rise to the hypothesis that they represent some form of neuronal dysplasia [7,26]. Others, however, believe they merely represent an extended transitional zone of abnormal ganglion cells in HSCR.…”

Section: Problems In Interpreting Ache Histochemistrymentioning

confidence: 98%

“…The view that the neurofibrils represent a developmental innervation defect has contributed to the debate surrounding intestinal neuronal dysplasia (IND), characterized by an increase in AChE-staining neurofibrils in the lamina propria and muscularis mucosa as well as a number of other features [7,26] coexisting with HSCR. The concept of a dysplastic ENS in normally ganglionated bowel is supported by other evidence of anatomical ENS abnormalities in the proximal ganglionated bowel in HSCR, observed by silver staining [71] or other immunocytochemical techniques [95].…”

Section: Problems In Interpreting Ache Histochemistrymentioning

confidence: 99%

Acetylcholinesterase in Hirschsprung?s disease

Moore

Johnson

2005

Ped Surgery Int

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The association between the congenital absence of colonic ganglion cells and an increased acetylcholinesterase (AChE) expression in the affected tissue is of diagnostic importance in Hirschsprung's disease (HSCR). Investigation of AChE's function in development may also help unravel some of the complex pathophysiology in HSCR. Normal nerves do not stain for AChE, but increased AChE expression is associated with the hypertrophied extrinsic nerve fibres of the aganglionic segment in HSCR. Although a high degree of histochemical diagnostic accuracy exists, results are not always uniform, and false positives and false negatives are reported. False negative results are primarily related to age, and an absence of AChE reaction does not exclude HSCR in neonates within the first 3 weeks after birth. AChE staining results may lack uniformity, resulting in a number of technical modifications that have been made to improve standardization of AChE staining. At least two distinct histological patterns are described, types A and B. The interpretation of increased AChE staining patterns in ganglionated bowel at the time of surgical pull-through remains a problem in patients with HSCR. The development of rapid staining techniques has helped to identify normal ganglionated bowel with greater certainty. The presence of fine AChE neurofibrils in the ganglionated segment has contributed to the debate surrounding intestinal neuronal dysplasia. Quantitative assay of cholinesterase activity confirms the pattern of histochemical staining. AChE is particularly increased in relation to butrylcholinesterase, with one molecular form, the G4 tetrameric form, predominating. It is likely that the raised levels of AChE in aganglionic tissue are the transcriptional consequence of the abnormalities in signalling molecules that characterize HSCR. Evidence suggests that this AChE is functioning in a nonenzymatic capacity to promote cell adhesion and differentiation and that the hypertrophied nerves and neurofibrils may be the result of this increased AChE expression.

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Piebaldism‐Waardenburg syndrome: Histopathologic evidence for a neural crest syndrome

Kaplan

Chaderévian

Opitz³

et al. 1988

Am. J. Med. Genet.

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Piebaldism, an autosomal dominant trait, is characterized by patchy hypopigmentation of the face, anterior chest, abdomen, and limbs, heterochromia/bicolored irises, congenital megacolon, and deafness. A 4-month-old Inuit (Eskimo) boy with these manifestations also had left pulmonic artery stenosis, ocular ptosis, and unilateral duplication of the renal collecting system. Evidence is presented for both qualitative and quantitative derangement of neural crest derivatives in this syndrome. Histologically, hypoganglionosis, hyperganglionosis, and ectopic ganglia in lamina propria (neuronal colonic dysplasia [NCD]) were documented in the rectum. The appendix, proximal to the clinical transition zone, showed similar dysplasia. In the hypopigmented skin, multiple microscopic sections were devoid of melanocytes, with no melanin in adjacent basal cells. The hyperpigmented skin contained melanin throughout the basal layer, but the melanocytes were unevenly distributed. Most tissues affected in this boy are of neural crest origin; pathogenesis could be due to faulty migration along the established pathways involving either the borders (basal laminae) or the components of the extracellular matrix (fibronectin, cytotactin, laminin, glycosaminoglycans, and collagen). The similarities between piebaldism and the Waardenburg syndromes are discussed.

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Symptoms, diagnosis, and therapy of neuronal intestinal dysplasia masked by Hirschsprung's disease

Cited by 42 publications

References 14 publications

Histopathological criteria for intestinal neuronal dysplasia of the submucosal plexus (type B)

Histopathological criteria for intestinal neuronal dysplasia of the submucosal plexus (type B)

Acetylcholinesterase in Hirschsprung?s disease

Piebaldism‐Waardenburg syndrome: Histopathologic evidence for a neural crest syndrome

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