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Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Sara M. O'Hara, MD, FAAP
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Abbreviations

              • Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS)

            • Synonyms

              • Familial visceral myopathy
              • Berdon syndrome
                • Described by Berdon et al in 1976

            • Definitions

              • Rare congenital disorder of smooth muscle dysfunction resulting in poor motility of GI & GU tracts

            IMAGING

            • General Features

              DIFFERENTIAL DIAGNOSIS

                PATHOLOGY

                • General Features

                  CLINICAL ISSUES

                  • Presentation

                    • Demographics

                      • Natural History & Prognosis

                        Selected References

                        1. Ignasiak-Budzyńska K et al: Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS): series of 4 cases caused by mutation of ACTG2 (Actin Gamma 2, Smooth Muscle) Gene. Case Rep Gastrointest Med. 2021:6612983, 2021
                        2. Kocoshis SA et al: Esophageal dysmotility: an intrinsic feature of megacystis, microcolon, hypoperistalsis syndrome (MMIHS). J Pediatr Surg. 54(7):1303-7, 2019
                        3. Hugar LA et al: Urologic phenotype and patterns of care in patients with megacystis microcolon intestinal hypoperistalsis syndrome presenting to a major pediatric transplantation center. Urology. 119:127-132, 2018
                        4. De Sousa J et al: Megacystis microcolon intestinal hypoperistalsis syndrome: case reports and discussion of the literature. Fetal Diagn Ther. 39(2):152-7, 2016
                        5. Genetic & Rare Diseases Information Center (GARD): Megacystis microcolon intestinal hypoperistalsis syndrome. Published October, 2015. Accessed May, 2016. https://rarediseases.info.nih.gov/gard/3442/megacystis-microcolon-intestinal-hypoperistalsis-syndrome/resources/1.
                        6. Lu W et al: Mutation in actin γ-2 responsible for megacystis microcolon intestinal hypoperistalsis syndrome in four Chinese patients. J Pediatr Gastroenterol Nutr. 63(6):624-6, 2016
                        7. Matera I et al: Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction. Eur J Hum Genet. 24(8):1211-5, 2016
                        8. Tuzovic L et al: New insights into the genetics of fetal megacystis: ACTG2 mutations, encoding γ-2 smooth muscle actin in megacystis microcolon intestinal hypoperistalsis syndrome (Berdon syndrome). Fetal Diagn Ther. 38(4):296-306, 2015
                        9. Wangler MF et al: Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. PLoS Genet. 10(3):e1004258, 2014
                        10. Ballisty MM et al: Imaging findings in megacystis-microcolon-intestinal hypoperistalsis syndrome. Pediatr Radiol. 43(4):454-9, 2013
                        11. Mc Laughlin D et al: Familial megacystis microcolon intestinal hypoperistalsis syndrome: a systematic review. Pediatr Surg Int. 29(9):947-51, 2013
                        12. Ambartsumyan L et al: Megacystis-microcolon-intestinal hypoperistalsis syndrome overview, 1993
                        13. Wangler MF et al: ACTG2-related disorders, 1993
                        Related Anatomy
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                        Related Differential Diagnoses
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                        References
                        Tables

                        Tables

                        KEY FACTS

                        • Terminology

                          • Imaging

                            • Top Differential Diagnoses

                              • Pathology

                                • Clinical Issues

                                  TERMINOLOGY

                                  • Abbreviations

                                    • Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS)

                                  • Synonyms

                                    • Familial visceral myopathy
                                    • Berdon syndrome
                                      • Described by Berdon et al in 1976

                                  • Definitions

                                    • Rare congenital disorder of smooth muscle dysfunction resulting in poor motility of GI & GU tracts

                                  IMAGING

                                  • General Features

                                    DIFFERENTIAL DIAGNOSIS

                                      PATHOLOGY

                                      • General Features

                                        CLINICAL ISSUES

                                        • Presentation

                                          • Demographics

                                            • Natural History & Prognosis

                                              Selected References

                                              1. Ignasiak-Budzyńska K et al: Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS): series of 4 cases caused by mutation of ACTG2 (Actin Gamma 2, Smooth Muscle) Gene. Case Rep Gastrointest Med. 2021:6612983, 2021
                                              2. Kocoshis SA et al: Esophageal dysmotility: an intrinsic feature of megacystis, microcolon, hypoperistalsis syndrome (MMIHS). J Pediatr Surg. 54(7):1303-7, 2019
                                              3. Hugar LA et al: Urologic phenotype and patterns of care in patients with megacystis microcolon intestinal hypoperistalsis syndrome presenting to a major pediatric transplantation center. Urology. 119:127-132, 2018
                                              4. De Sousa J et al: Megacystis microcolon intestinal hypoperistalsis syndrome: case reports and discussion of the literature. Fetal Diagn Ther. 39(2):152-7, 2016
                                              5. Genetic & Rare Diseases Information Center (GARD): Megacystis microcolon intestinal hypoperistalsis syndrome. Published October, 2015. Accessed May, 2016. https://rarediseases.info.nih.gov/gard/3442/megacystis-microcolon-intestinal-hypoperistalsis-syndrome/resources/1.
                                              6. Lu W et al: Mutation in actin γ-2 responsible for megacystis microcolon intestinal hypoperistalsis syndrome in four Chinese patients. J Pediatr Gastroenterol Nutr. 63(6):624-6, 2016
                                              7. Matera I et al: Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction. Eur J Hum Genet. 24(8):1211-5, 2016
                                              8. Tuzovic L et al: New insights into the genetics of fetal megacystis: ACTG2 mutations, encoding γ-2 smooth muscle actin in megacystis microcolon intestinal hypoperistalsis syndrome (Berdon syndrome). Fetal Diagn Ther. 38(4):296-306, 2015
                                              9. Wangler MF et al: Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. PLoS Genet. 10(3):e1004258, 2014
                                              10. Ballisty MM et al: Imaging findings in megacystis-microcolon-intestinal hypoperistalsis syndrome. Pediatr Radiol. 43(4):454-9, 2013
                                              11. Mc Laughlin D et al: Familial megacystis microcolon intestinal hypoperistalsis syndrome: a systematic review. Pediatr Surg Int. 29(9):947-51, 2013
                                              12. Ambartsumyan L et al: Megacystis-microcolon-intestinal hypoperistalsis syndrome overview, 1993
                                              13. Wangler MF et al: ACTG2-related disorders, 1993