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Variant Hirschsprung’s Disease

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Pediatric Surgery

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Abstract

Variants of Hirschsprung’s disease (HD) are rare conditions that clinically resemble HD despite the presence of ganglion cells in rectal biopsies. Thus, the diagnosis and treatment of such patients can be extremely challenging. Various histological, immunohistochemical or electron microscopic investigations, in addition to anorectal manometry studies, are generally required to delineate this heterogeneous group of functional bowel disorders. At present, variants of HD comprise intestinal neuronal dysplasia, intestinal ganglioneuromatosis, isolated hypoganglionosis, immature ganglia, absence of the argyrophil plexus, internal anal sphincter achalasia and congenital smooth muscle cell disorders, such as megacystis-microcolon-intestinal hypoperistalsis syndrome. However, controversy remains regarding the precise definition of these aforementioned entities. Therefore, there is ongoing research in order to standardize diagnostic criteria as well as to improve current therapeutic approaches. This chapter provides a comprehensive overview of variants of HD with an additional focus on epidemiology, pathogenesis, clinical presentation, management, and outcome.

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Author information

Authors and Affiliations

  1. Department of Pediatric Surgery, University Hospital Frankfurt, Goethe University Frankfurt, Frankfurt (Main), Germany

    Florian Friedmacher

  2. Department of Pediatric Surgery, Beacon Hospital, and University College Dublin, Dublin, Ireland

    Prem Puri

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  1. Florian Friedmacher
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  2. Prem Puri
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Correspondence to Florian Friedmacher .

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Editors and Affiliations

  1. Beacon Hospital, University College Dublin, Dublin, Ireland

    Prem Puri

  2. University Clinic of Paediatric and Adolescent Surgery, Medical University of Graz, Graz, Austria

    Michael E. Höllwarth

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Friedmacher, F., Puri, P. (2023). Variant Hirschsprung’s Disease. In: Puri, P., Höllwarth, M.E. (eds) Pediatric Surgery. Springer, Cham. https://doi.org/10.1007/978-3-030-81488-5_70

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  • DOI: https://doi.org/10.1007/978-3-030-81488-5_70

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