Abstract
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital condition, and such patients tend to present with abdominal distension, a largely dilated nonobstructive bladder, microcolon, and severe functional intestinal obstruction without structural atresia or stenosis in the neonatal period. Currently, the etiology is not well understood, and there is no specific treatment for this condition. The majority of MMIHS patients repeat the intestinal obstruction and enteritis, so they require long-term PN and drainage stomas. The prognosis remains poor.
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References
Berdon WE, Baker DH, Blanc WA, et al. Megacystis-microcolon-intestinal hypoperistalsis syndrome: a new cause of intestinal obstruction in the newborn. Report of radiologic findings in five newborn girls. Am J Roentgenol. 1976;126:957–64.
Puri P, Shinkai M. Megacystis microcolon intestinal hypoperistalsis syndrome. Semin Pediatr Surg. 2005;14:58–63.
Granata C, Puri P. Megacystis-microcolon-intestinal hypoperistalsis syndrome. J Pediatr Gastroenterol Nutr. 1997;25:12–9.
Kohler M, Pease PW, Upadhyay V. Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) in siblings: case report and review of the literature. Eur J Pediatr Surg. 2004;14:362–7.
Gosemann JH, Puri P. Megacystis microcolon intestinal hypoperistalsis syndrome: systematic review of outcome. Pediatr Surg Int. 2011;27:1041–6.
Magana PMI, Al-Kassam MM, Bousono GC, Ramos PE, Gómez AME. The megacystis microcolon-intestinal hypoperistalsis syndrome: apropos of a case with prolonged survival. Nutr Hosp. 2004;23:513–5.
Oka Y, Asabe K, Shirakusa T, Nabeshima K. An antenatal appearance of megacystis-microcolon-intestinal hypoperistalsis syndrome. Turk J Pediatr. 2008;50:269–74.
Pohl J, Chandra R, Corpuz G, McNeal C, Macfarlane R. Hypertriglyceridemia and megacystis-microcolon-intestinal hypoperistalsis syndrome. J Pediatr Gastroenterol Nutr. 2008;47:507–13.
Okamoto E, Toyosaka A. Pseudo-Hirschsprung’s disease—the definition, name and classification. Jpn Pediatr Surg. 1996;28:1017–22.
Rudolph CD, Hyman PE, Altschuler SM, et al. Diagnosis and treatment of chronic intestinal pseudoobstruction in children: report of consensus workshop. J Pediatr Gastroenterol Nutr. 1997;24:102–12.
Rolle U, O’Briain S, Pearl RH, Puri P. Megacystis-microcolon-intestinal hypoperistalsis syndrome: evidence of intestinal myopathy. Pediatr Surg Int. 2002;18:2–5.
Taguchi T, Ikeda K, Shono T, Goto S, Kubota M, Kawana T, et al. Autonomic innervation of the intestine from a baby with megacystis microcolon intestinal hypoperistalsis syndrome: I. Immunohistochemical study. J Pediatr Surg. 1984;24:1264–6.
Piotrowska AP, Role U, Chertin B, De Caluwé D, Bianchi A, Puri P. Alterations in smooth muscle contractile and cytoskeleton proteins and interstitial cells of Cajal in megacystis microcolon intestinal hypoperistalsis syndrome. J Pediatr Surg. 2003;38:749–55.
Puri P, Lake BD, Gorman F, et al. Megacystis-microcolon-intestinal hypoperistalsis syndrome: a visceral myopathy. J Pediatr Surg. 1983;18:64–9.
Xu W, Orr-Urtreger A, Nigro F, et al. Multiorgan autonomic dysfunction in mice lacking the beta2 and the beta4 subunits of neuronal nicotinic acetylcholine receptors. J Neurosci. 1999;19(21):9298–305.
Xu W, Gelber S, Orr-Urtreger A, et al. Megacystis, mydriasis, and ion channel defect in mice lacking the alpha3 neuronal nicotinic acetylcholine receptor. Proc Natl Acad Sci U S A. 1999;96(10):5746–51.
Richardson CH, M organ JM, J asani B, et al. Megacystis - microcolon - intestinal hypoperistalsis syndrome and the absence of the a3 nicotinic acetylcholine receptor subunit. Gastroenterology. 2001;121:350–7.
Wangler MF, Gonzaga-Jauregui C, Gambin C. Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. PLoS Genet. 2014;10(3):e1004258.
Yamoto K, Kawahara H, Urushibara N. De novo ACTG2 mutation identified by whole exome sequencing in a patient with allied Hirschsprung’s disease. J Jpn Soc Pediatr Surg. 2015;53(2017):1210–4.
Soh H, Fukuzawa M, Kubota A, et al. Megacystis microcolon intestinal hypoperistalsis syndrome: a report of a nationwide survey in Japan. J Pediatr Surg. 2015;50(12):2048–50.
Kirtane J, Talwalker V, Dastur DK. Megacystis-microcolon-intestinal hypoperistalsis syndrome: possible pathogenesis. J Pediatr Surg. 1984;19:206–8.
Willand DA, Gabriele OF. Megacystis-microcolon-intestinal hypoperistalsis syndrome. A case report. Turk J Pediatr. 1986;14:481–5.
Penman DG, Lilford RJ. The megacystis-microcolon-intestinal hypoperistalsis syndrome: a fatal autosome recessive condition. J Med Genet. 1989;26:66–7.
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Soh, H. (2019). Megacystis Microcolon Intestinal Hypoperistalsis Syndrome: MMIHS. In: Taguchi, T., Matsufuji, H., Ieiri, S. (eds) Hirschsprung’s Disease and the Allied Disorders. Springer, Singapore. https://doi.org/10.1007/978-981-13-3606-5_40
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DOI: https://doi.org/10.1007/978-981-13-3606-5_40
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