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Pathology of Enteric Neuromusculature

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Pediatric Neurogastroenterology

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Abstract

Characterisation of histopathology is often considered the gold standard investigation for disorders of enteric neuromuscular function, but remains a challenge given limitations in available expertise, tissue and tools. Furthermore, changes in the tissue are often subtle and may be patchy. Optimal histopathological characterisation requires appropriate preparation of adequate samples of tissue before application of a range of immunostaining techniques. Over the years this has led to the identification of a number of discrete histopathological patterns of enteric neuromuscular disease classed under the headings of enteric neuropathies, myopathies, mesenchymopathies and channelopathies. In terms of congenital disorders each of these groups comprises both quantitative and qualitative abnormalities. For neuropathies these range from aganglionosis as seen in Hirschsprung’s disease through to neuronal immaturity and degeneration. Myopathies include defects of muscle layering, replacement of muscle by fibrosis, myocyte vacuolation and atrophy, and abnormalities in contractile proteins. Acquired disorders largely comprise immune mediated disruption of enteric nerves and muscles with evidence of immunocyte infiltration and in some cases cell loss. Systemic disorders resulting in enteric neuromuscular function include cystic fibrosis and mitochondrial cytopathies each of which are associated with specific histological phenotypes. In the future it is likely histological characterisation will improve further but need to follow more robust, widely applicable protocols incorporating a broader range of specialised methodologies and assessment of other cell types including glia and interstitial cells of cajal.

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Authors and Affiliations

  1. Paediatric Surgery Unit, Institute of Child Head, University College London, 30 West Avenue, London, N31AX, UK

    Virpi Vanamo Smith Ph.D., FRCPath

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  1. Virpi Vanamo Smith Ph.D., FRCPath
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Correspondence to Virpi Vanamo Smith Ph.D., FRCPath .

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Editors and Affiliations

  1. Sainte-Justine Hospital, Department of Pediatrics, Division of Pediatric Gastroenterology, Université de Montréal, Montreal, H3T 1C5, Québec, Canada

    Christophe Faure

  2. Nationwide Children's Hospital, Division of Pediatric Gastroenterology, The Ohio State University, Columbus, 43205, Ohio, USA

    Carlo Di Lorenzo

  3. Gastroenterology and Neural Development, University College London, Institute of Child Health, Great Ormond Street Hospital for Children, London, WC1N 1EH, United Kingdom

    Nikhil Thapar

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Smith, V.V. (2013). Pathology of Enteric Neuromusculature. In: Faure, C., Di Lorenzo, C., Thapar, N. (eds) Pediatric Neurogastroenterology. Clinical Gastroenterology. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-60761-709-9_17

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  • DOI: https://doi.org/10.1007/978-1-60761-709-9_17

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  • Publisher Name: Humana Press, Totowa, NJ

  • Print ISBN: 978-1-60761-708-2

  • Online ISBN: 978-1-60761-709-9

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