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
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
Kocoshis SA et al: Esophageal dysmotility: an intrinsic feature of megacystis, microcolon, hypoperistalsis syndrome (MMIHS). J Pediatr Surg. 54(7):1303-7, 2019
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
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
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.
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
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
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
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
Ballisty MM et al: Imaging findings in megacystis-microcolon-intestinal hypoperistalsis syndrome. Pediatr Radiol. 43(4):454-9, 2013
Mc Laughlin D et al: Familial megacystis microcolon intestinal hypoperistalsis syndrome: a systematic review. Pediatr Surg Int. 29(9):947-51, 2013
Ambartsumyan L et al: Megacystis-microcolon-intestinal hypoperistalsis syndrome overview, 1993
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
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
Kocoshis SA et al: Esophageal dysmotility: an intrinsic feature of megacystis, microcolon, hypoperistalsis syndrome (MMIHS). J Pediatr Surg. 54(7):1303-7, 2019
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
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
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.
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
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
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
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
Ballisty MM et al: Imaging findings in megacystis-microcolon-intestinal hypoperistalsis syndrome. Pediatr Radiol. 43(4):454-9, 2013
Mc Laughlin D et al: Familial megacystis microcolon intestinal hypoperistalsis syndrome: a systematic review. Pediatr Surg Int. 29(9):947-51, 2013
Ambartsumyan L et al: Megacystis-microcolon-intestinal hypoperistalsis syndrome overview, 1993
Wangler MF et al: ACTG2-related disorders, 1993
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