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Imaging findings in megacystis-microcolon-intestinal hypoperistalsis syndrome

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Abstract

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare and frequently lethal form of severe functional intestinal obstruction more commonly found in girls. Imaging features characteristic of this disease include a large dilated bladder, microcolon and intestinal dysmotility. Additional imaging findings may include intestinal malrotation, hydronephrosis and vesicoureteral reflux. It is usually fatal in the first year of life. Because presenting clinical and imaging features can mimic other causes of neonatal bowel obstruction, we compiled examples of this disorder to help the pediatric radiologist recognize imaging findings associated with MMIHS and aid in the development of a long-term management plan and in counseling the family regarding implications of this disorder. We reviewed recent and historical literature relevant to MMIHS and present the imaging and clinical features of four patients with MMIHS treated at our institution as examples of this uncommon disorder.

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References

  1. Berdon WE, Baker DH, Blanc WA et al (1976) Megacystis-microcolon-intestinal hypoperistalsis syndrome: a new cause of intestinal obstruction in the newborn. Report of radiologic findings in five newborn girls. AJR 126:957–964

    Article  PubMed  CAS  Google Scholar 

  2. Koh S, Bradley RF, French SW et al (2008) Congenital visceral myopathy with a predominantly hypertrophic pattern treated by multivisceral transplantation. Hum Pathol 39:970–974

    Article  PubMed  Google Scholar 

  3. Gosemann JH, Puri P (2011) Megacystis microcolon intestinal hypoperistalsis syndrome: systematic review of outcome. Pediatr Surg Int 27:1041–1046

    Article  PubMed  Google Scholar 

  4. Krook PM (1980) Megacystis-microcolon-intestinal hypoperistalsis syndrome in a male infant. Radiology 136:649–650

    PubMed  CAS  Google Scholar 

  5. Winter RM, Knowles SAS (1986) Megacystis-microcolon-intestinal hypoperistalsis syndrome: confirmation of autosomal recessive inheritance. J Med Genet 23:360–362

    Article  PubMed  CAS  Google Scholar 

  6. Puri P, Shinkai M (2005) Megacystis microcolon intestinal hypoperistalsis syndrome. Semin Pediatr Surg 14:58–63

    Article  PubMed  Google Scholar 

  7. Ciftci AO, Cook RCM, vanVelzen D (1996) Megacystis microcolon intestinal hypoperistalsis syndrome: evidence of a primary myocellular defect of contractile fiber synthesis. J Pediatr Surg 31:1706–1711

    Article  PubMed  CAS  Google Scholar 

  8. Puri P, Lake BD, Gorman F et al (1983) Megacystis-microcolon-intestinal hypoperistalsis syndrome: a visceral myopathy. J Pediatr Surg 18:64–69

    Article  PubMed  CAS  Google Scholar 

  9. Rolle U, O’Briain S, Pearl RH et al (2002) Megacystis-microcolon-intestinal hypoperistalsis syndrome: evidence of intestinal myopathy. Pediatr Surg Int 18:2–5

    Article  PubMed  Google Scholar 

  10. Rolle U, Puri P (2006) Structural basis of voiding dysfunction in megacystis microcolon intestinal hypoperistalsis syndrome. J Pediatr Urol 2:277–284

    Article  PubMed  Google Scholar 

  11. Piotrowska AP, Rolle U, De Chertin B et al (2003) Alterations in smooth muscle contractile and cytoskeleton proteins and interstitial cells of Cajal on megacystis microcolon intestinal hypoperistalsis syndrome. J Pediatr Surg 38:749–755

    Article  PubMed  Google Scholar 

  12. Oliveira G, Boechat MI, Ferreira MA (1983) Megacystis-microcolon-intestinal hypoperistalsis syndrome in a newborn girl whose brother had prune belly syndrome: common pathogenesis? Pediatr Radiol 13:294–296

    Article  PubMed  CAS  Google Scholar 

  13. Levin TL, Soghier L, Blitman NM et al (2004) Megacystis-microcolon-intestinal hypoperistalsis and prune belly: overlapping syndromes. Pediatr Radiol 34:995–998

    Article  PubMed  Google Scholar 

  14. Szigeti R, Chumpitazi BP, Finegold MJ et al (2010) Absent smooth muscle actin immunoreactivity of the small bowel muscularis propria circular layer in association with chromosome 15q11 deletion in megacystis-microcolon-intestinal hypoperistalsis syndrome. Pediatr Dev Pathol 13:322–325

    Article  PubMed  Google Scholar 

  15. Young LW, Yunis EJ, Girdany BR et al (1981) Megacystis-microcolon-intestinal hypoperistalsis syndrome: additional clinical, radiologic, surgical, and histopathologic aspects. AJR 137:749–755

    Article  PubMed  CAS  Google Scholar 

  16. Amoury RA, Fellows RA, Goodwin CD et al (1977) Megacystis-microcolon-intestinal hypoperistalsis syndrome: a cause of intestinal obstruction in the newborn period. J Pediatr Surg 12:1063–1065

    Article  PubMed  CAS  Google Scholar 

  17. Munch EM, Cisek LJ Jr, Roth DR (2009) Magnetic resonance imaging for prenatal diagnosis of multisystem disease: megacystis microcolon intestinal hypoperistalsis syndrome. Urology 74:592–594

    Article  PubMed  Google Scholar 

  18. Veyrac C, Couture A, Saguintaah M et al (2004) MRI of fetal GI tract abnormalities. Abdom Imaging 29:411–420

    Article  PubMed  CAS  Google Scholar 

  19. Masetti M, Rodriguez MM, Thompson JF et al (1999) Multivisceral transplantation for megacystis microcolon intestinal hypoperistalsis syndrome. Transplantation 68:228–232

    Article  PubMed  CAS  Google Scholar 

  20. Loinaz C, Rodríguez MM, Kato T et al (2005) Intestinal and multivisceral transplantation in children with severe gastrointestinal dysmotility. J Pediatr Surg 40:1598–1604

    Article  PubMed  Google Scholar 

  21. Raofi V, Beatty E, Testa G et al (2008) Combined living-related segmental liver and bowel transplantation for megacystis-microcolon-intestinal hypoperistalsis syndrome. J Pediatr Surg 43:E9–E11

    Article  PubMed  Google Scholar 

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Authors and Affiliations

  1. Department of Radiology and Imaging Sciences, Children’s Healthcare of Atlanta, Emory University, 1405 Clifton Road NE, Atlanta, GA, 30322, USA

    Marianne M. Ballisty, Kiery A. Braithwaite & Paula N. Dickson

  2. Department of Pathology, Children’s Healthcare of Atlanta, Emory University, Atlanta, GA, USA

    Bahig M. Shehata

Authors
  1. Marianne M. Ballisty
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  2. Kiery A. Braithwaite
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  3. Bahig M. Shehata
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  4. Paula N. Dickson
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Correspondence to Marianne M. Ballisty.

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Ballisty, M.M., Braithwaite, K.A., Shehata, B.M. et al. Imaging findings in megacystis-microcolon-intestinal hypoperistalsis syndrome. Pediatr Radiol 43, 454–459 (2013). https://doi.org/10.1007/s00247-012-2479-y

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  • DOI: https://doi.org/10.1007/s00247-012-2479-y

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