Kevin M Wymer1, Blake B Anderson2, Ashley A Wilkens3, Mohan S Gundeti3. 1. Pritzker School of Medicine, University of Chicago. 2. Section of Urology, University of Chicago Medicine. Electronic address: Blake.Anderson@uchospitals.edu. 3. Section of Urology, University of Chicago Medicine.
Abstract
INTRODUCTION: Megacystis microcolon intestinal hypoperistalsis (MMIHS) is a rare disorder characterized by distended nonobstructed bladder, microcolon, and decreased intestinal peristalsis. MMIHS has a particularly poor prognosis; however, when appropriately managed, survival can be prolonged. STUDY DESIGN: A systematic review (1996-2016) was performed with the key words "megacystis microcolon intestinal hypoperistalsis syndrome." In addition, a case series of four patients is presented as well as algorithms for the diagnosis and treatment of MMIHS. RESULTS: 135 patients with MMIHS were identified in the literature. 73% (88/121) of the patients were female, 65% underwent diagnostic biopsy (64/99), and 63% (66/106) were identified with prenatal imaging. The majority of patients were treated with TPN as well as gastrostomy or ileostomy and CIC, however 15% (18/116) received multivisceral or intestinal transplant, and 30% (22/73) had a vesicostomy. The survival rate was 57% (68/121). CONCLUSION: Appropriate management of MMIHS patients is crucial. An enlarged, acontractile bladder in a child with bowel motility problems should be considered diagnostic. Bladder distension can be managed with CIC or vesicostomy in addition to prophylactic antibiotics if frequent urinary tract infections are present. These patients often require gastrostomy or ileostomy as well as total parenteral nutrition. This management has led to significant improvement in survival rates.
INTRODUCTION:Megacystis microcolon intestinal hypoperistalsis (MMIHS) is a rare disorder characterized by distended nonobstructed bladder, microcolon, and decreased intestinal peristalsis. MMIHS has a particularly poor prognosis; however, when appropriately managed, survival can be prolonged. STUDY DESIGN: A systematic review (1996-2016) was performed with the key words "megacystis microcolon intestinal hypoperistalsis syndrome." In addition, a case series of four patients is presented as well as algorithms for the diagnosis and treatment of MMIHS. RESULTS: 135 patients with MMIHS were identified in the literature. 73% (88/121) of the patients were female, 65% underwent diagnostic biopsy (64/99), and 63% (66/106) were identified with prenatal imaging. The majority of patients were treated with TPN as well as gastrostomy or ileostomy and CIC, however 15% (18/116) received multivisceral or intestinal transplant, and 30% (22/73) had a vesicostomy. The survival rate was 57% (68/121). CONCLUSION: Appropriate management of MMIHS patients is crucial. An enlarged, acontractile bladder in a child with bowel motility problems should be considered diagnostic. Bladder distension can be managed with CIC or vesicostomy in addition to prophylactic antibiotics if frequent urinary tract infections are present. These patients often require gastrostomy or ileostomy as well as total parenteral nutrition. This management has led to significant improvement in survival rates.
Authors: Danny Halim; Michael P Wilson; Daniel Oliver; Erwin Brosens; Joke B G M Verheij; Yu Han; Vivek Nanda; Qing Lyu; Michael Doukas; Hans Stoop; Rutger W W Brouwer; Wilfred F J van IJcken; Orazio J Slivano; Alan J Burns; Christine K Christie; Karen L de Mesy Bentley; Alice S Brooks; Dick Tibboel; Suowen Xu; Zheng Gen Jin; Tono Djuwantono; Wei Yan; Maria M Alves; Robert M W Hofstra; Joseph M Miano Journal: Proc Natl Acad Sci U S A Date: 2017-03-14 Impact factor: 11.205
Authors: Danny Halim; Erwin Brosens; Françoise Muller; Michael F Wangler; Arthur L Beaudet; James R Lupski; Zeynep H Coban Akdemir; Michael Doukas; Hans J Stoop; Bianca M de Graaf; Rutger W W Brouwer; Wilfred F J van Ijcken; Jean-François Oury; Jonathan Rosenblatt; Alan J Burns; Dick Tibboel; Robert M W Hofstra; Maria M Alves Journal: Am J Hum Genet Date: 2017-06-08 Impact factor: 11.025
Authors: Lauge Farnaes; Amber Hildreth; Nathaly M Sweeney; Michelle M Clark; Shimul Chowdhury; Shareef Nahas; Julie A Cakici; Wendy Benson; Robert H Kaplan; Richard Kronick; Matthew N Bainbridge; Jennifer Friedman; Jeffrey J Gold; Yan Ding; Narayanan Veeraraghavan; David Dimmock; Stephen F Kingsmore Journal: NPJ Genom Med Date: 2018-04-04 Impact factor: 8.617
Authors: Natalia Buinoiu; Anca Panaitescu; Mihaela Demetrian; Sebastian Ionescu; Gheorghe Peltecu; Alina Veduta Journal: Clin Case Rep Date: 2018-03-12