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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
- 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
- Lu W et al: Mutation in actin γ-2 responsible for megacystis microcolon intestinal hypoperistalsis syndrome in four Chinese patients. J Pediatr Gastroenterol Nutr. ePub, 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. ePub, 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
- Wangler MF et al: ACTG2-Related Disorders, 1993
- Genetic and Rare Diseases Information Center (GARD): Megacystis microcolon intestinal hypoperistalsis syndrome. https://rarediseases.info.nih.gov/gard/3442/megacystis-microcolon-intestinal-hypoperistalsis-syndrome/resources/1. Published October, 2015. Accessed May, 2016.
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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
- 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
- Lu W et al: Mutation in actin γ-2 responsible for megacystis microcolon intestinal hypoperistalsis syndrome in four Chinese patients. J Pediatr Gastroenterol Nutr. ePub, 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. ePub, 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
- Wangler MF et al: ACTG2-Related Disorders, 1993
- Genetic and Rare Diseases Information Center (GARD): Megacystis microcolon intestinal hypoperistalsis syndrome. https://rarediseases.info.nih.gov/gard/3442/megacystis-microcolon-intestinal-hypoperistalsis-syndrome/resources/1. Published October, 2015. Accessed May, 2016.
