Clinical and histologic studies of neuronal intestinal dysplasia

Munakata, Keimei; Morita, Ken; Okabe, Ichiro; Sueoka, Hideaki

doi:10.1016/s0022-3468(85)80109-3

Cited by 69 publications

(39 citation statements)

References 9 publications

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“…Mutations in the c-RET gene (22,24), the glial cell line-derived neurotrophic factor gene (49,50), the endothelin-3 gene (51), and the endothelin-B receptor gene (23) were identified in Hirschsprung's disease. Neuronal intestinal dysplasia is a human congenital disorder which is characterized by a megacolon with a normal number of ganglia or hyperplasia of enteric neurons (52,53). Therefore, the human homologue of the Ncx/Hox11L.1 gene can be a candidate gene for neuronal intestinal dysplasia.…”

Section: Discussionmentioning

confidence: 99%

A novel pathogenesis of megacolon in Ncx/Hox11L.1 deficient mice.

Hatano¹,

Aoki²,

Dezawa³

et al. 1997

J. Clin. Invest.

110

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The Ncx/Hox11L.1 gene, a member of the Hox11 homeobox gene family, is mainly expressed in neural crest-derived tissues. To elucidate the role of Ncx/Hox11L.1, the gene has been inactivated in embryonic stem cells by homologous recombination. The homozygous mutant mice were viable. These mice developed megacolon with enteric ganglia by age 3-5 wk. Histochemical analysis of the ganglia revealed that the enteric neurons hyperinnervated in the narrow segment of megacolon. Some of these neuronal cells degenerated and neuronal cell death occurred in later stages. We propose that Ncx/Hox11L.1 is required for maintenance of proper functions of the enteric nervous system. These mutant mice can be used to elucidate a novel pathogenesis for human neuronal intestinal dysplasia. ( J. Clin. Invest. 1997. 100:795-801.)

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Section: Discussionmentioning

confidence: 99%

A novel pathogenesis of megacolon in Ncx/Hox11L.1 deficient mice.

Hatano¹,

Aoki²,

Dezawa³

et al. 1997

J. Clin. Invest.

110

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“…The clinical significance also remains unclear because of the lack of correlation between clinical symptoms and histological findings (19). Clinical improvement with conservative treatment and spontaneous resolution is consistently reported (68)(69)(70), again arguing in favor of a developmental phenomenon or variation of normal rather than a pathological entity. A review of the literature supports this view and concludes that these appearances should not lead to major surgical intervention (67).…”

Section: Controversiesmentioning

confidence: 99%

A Practical Guide for the Diagnosis of Primary Enteric Nervous System Disorders

Schäppi

Staiano

Milla

et al. 2013

J. pediatr. gastroenterol. nutr.

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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.

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“…Other morphological features, such as the presence of ectopic ganglion cells, increased acetylcholinesterase activity, ganglion cells with a "button" appearance and hypertrophy of the nerve trunks, are considered diagnostic criteria in some studies [9,10,16,68,79,91] . The criteria described by MeierRuge et al [22] (2004) and slightly altered by MeierRouge et al [5] [5,77,92] .…”

Section: Diagnosismentioning

confidence: 99%

“…Most of these cases may resolve spontaneously up to the age of 4 years, due to the maturation of the enteric nervous system [93] . On the other hand, INDB may present with severe intestinal constipation, with infectious and obstructive symptoms, what require a more invasive treatment [77,91] . Therefore, there is a tendency to consider the conservative choice as a first line therapy in INDB.…”

Section: Diagnosismentioning

confidence: 99%