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Hirschsprung's Disease and Allied Disorders pp 283–296Cite as

Total Colonic Aganglionosis and Very-Long-Segment Hirschsprung’s Disease

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Abstract

Total colonic aganglionosis (TCA) is an uncommon form of Hirschsprung’s disease (HSCR) occurring in approximately 2–13% of cases and has long been recognized as presenting particular problems in diagnosis and management.

Although apparently the same condition as HSCR, TCA displays clinical, histopathological, and genetic differences that may account for altered clinical presentations. In terms of etiology, the variability observed in the penetrance and severity of Hirschsprung’s disease suggests a role for modifier genes with possible interaction with the central rearranged during transfection (RET) proto-oncogene variations.

There is usually no transition zone on radiological assessment without a rectosigmoid ratio index and possible reflux of contrast into a dilated ileum. Histology may also differ. There is a significantly increased incidence of TCA in families with recurrence of aganglionosis and increasing gene penetrance in subsequent cases. Many different surgical techniques have been utilized for TCA, with outcomes mostly related to the type of surgical technique performed and the length of the affected segment.

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Acknowledgments

This work is based on the research supported in part by the National Research Foundation and the Medical Research Council of South Africa.

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  1. Division of Pediatric Surgery, Faculty of Medicine and Health Sciences, University of Stellenbosch, Stellenbosch, South Africa

    Samuel William Moore

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  1. National Children’s Research Centre, Our Lady’s Childrens Hospital, University College Dublin, Dublin, Ireland

    Prem Puri

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Moore, S.W. (2019). Total Colonic Aganglionosis and Very-Long-Segment Hirschsprung’s Disease. In: Puri, P. (eds) Hirschsprung's Disease and Allied Disorders. Springer, Cham. https://doi.org/10.1007/978-3-030-15647-3_18

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