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Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

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Hirschsprung's Disease and Allied Disorders

Abstract

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital and generally fatal cause of functional intestinal obstruction in the newborn. MMIHS is characterized by a massively enlarged urinary bladder and aperistaltic intestine in the newborn. This syndrome is characterized by a distended abdomen caused by a non-obstructed dilated bladder, microcolon with malrotation, and decrease and/or absence of intestinal peristalsis. Several hypotheses have been proposed to explain the pathogenesis of MMIHS: genetic, neurogenic, myogenic, and hormonal factors. Recently, using whole-exome sequencing, a powerful tool used to identify disease genes, it was found that de novo variants in ACTG2 are implicated in the autosomal-dominant form of MMIHS, whereas homozygous variants in MYH11, MYLK, and LMOD1 cause a recessive form of the disease. MMIHS is usually diagnosed in the prenatal or the immediate neonatal period. Due to gastrointestinal dysmotility, enteral nutrition is not tolerated, and patients require parenteral nutrition. The majority of MMIHS patients in the past have had a fatal outcome due to complications of parenteral nutrition and/or renal insufficiency. In recent years, survival in MMIHS has improved due to more specialized care, innovations in parenteral nutrition, and the introduction of multivisceral transplantation.

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Authors and Affiliations

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

    Prem Puri

  2. National Children’s Research Centre, Our Lady’s Children’s Hospital, Crumlin, Dublin, Ireland

    Hiroki Nakamura

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  1. Prem Puri
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Correspondence to Prem Puri .

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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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Puri, P., Nakamura, H. (2019). Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. In: Puri, P. (eds) Hirschsprung's Disease and Allied Disorders. Springer, Cham. https://doi.org/10.1007/978-3-030-15647-3_21

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  • DOI: https://doi.org/10.1007/978-3-030-15647-3_21

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  • Publisher Name: Springer, Cham

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