Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS): Series of 4 Cases Caused by Mutation of ACTG2 (Actin Gamma 2, Smooth Muscle) Gene
MMIHS, also known as Berdon’s syndrome, is a rare disease that belongs to primary causes of CIPOS (chronic intestinal pseudoobstruction syndrome). Clinical characteristics of MMIHS are differential, but we come across the following classic symptoms: disorders of intestinal peristalsis, microcolon, a...
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Wiley
2021-01-01
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| Series: | Case Reports in Gastrointestinal Medicine |
| Online Access: | http://dx.doi.org/10.1155/2021/6612983 |
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| author | Katarzyna Ignasiak-Budzyńska Mikołaj Danko Janusz Książyk |
| author_facet | Katarzyna Ignasiak-Budzyńska Mikołaj Danko Janusz Książyk |
| author_sort | Katarzyna Ignasiak-Budzyńska |
| collection | DOAJ |
| description | MMIHS, also known as Berdon’s syndrome, is a rare disease that belongs to primary causes of CIPOS (chronic intestinal pseudoobstruction syndrome). Clinical characteristics of MMIHS are differential, but we come across the following classic symptoms: disorders of intestinal peristalsis, microcolon, and megacystis. In this article, we present a series of 4 patients with Berdon’s syndrome, in whom we managed to identify the genetic causes of MMIHS. All infants showed clinical features of bowel obstruction and dysfunction of the urinary system after birth. Two of them also manifested disorders from other systems. The prognosis for these patients is poor, but a constant betterment of management in MMIHS, in which the leading role plays TPN (total parental nutrition), causes improvement of patients’ survival. |
| format | Article |
| id | doaj-art-1e1a22f466eb4ce698936fbcdd16da86 |
| institution | Kabale University |
| issn | 2090-6528 2090-6536 |
| language | English |
| publishDate | 2021-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Gastrointestinal Medicine |
| spelling | doaj-art-1e1a22f466eb4ce698936fbcdd16da862025-02-03T06:07:39ZengWileyCase Reports in Gastrointestinal Medicine2090-65282090-65362021-01-01202110.1155/2021/66129836612983Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS): Series of 4 Cases Caused by Mutation of ACTG2 (Actin Gamma 2, Smooth Muscle) GeneKatarzyna Ignasiak-Budzyńska0Mikołaj Danko1Janusz Książyk2Department of Paediatrics, Nutrition and Metabolic Diseases, Children’s Memorial Health Institute, Al. Dzieci Polskich 20, Warsaw 04-730, PolandDepartment of Paediatrics, Nutrition and Metabolic Diseases, Children’s Memorial Health Institute, Al. Dzieci Polskich 20, Warsaw 04-730, PolandDepartment of Paediatrics, Nutrition and Metabolic Diseases, Children’s Memorial Health Institute, Al. Dzieci Polskich 20, Warsaw 04-730, PolandMMIHS, also known as Berdon’s syndrome, is a rare disease that belongs to primary causes of CIPOS (chronic intestinal pseudoobstruction syndrome). Clinical characteristics of MMIHS are differential, but we come across the following classic symptoms: disorders of intestinal peristalsis, microcolon, and megacystis. In this article, we present a series of 4 patients with Berdon’s syndrome, in whom we managed to identify the genetic causes of MMIHS. All infants showed clinical features of bowel obstruction and dysfunction of the urinary system after birth. Two of them also manifested disorders from other systems. The prognosis for these patients is poor, but a constant betterment of management in MMIHS, in which the leading role plays TPN (total parental nutrition), causes improvement of patients’ survival.http://dx.doi.org/10.1155/2021/6612983 |
| spellingShingle | Katarzyna Ignasiak-Budzyńska Mikołaj Danko Janusz Książyk Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS): Series of 4 Cases Caused by Mutation of ACTG2 (Actin Gamma 2, Smooth Muscle) Gene Case Reports in Gastrointestinal Medicine |
| title | Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS): Series of 4 Cases Caused by Mutation of ACTG2 (Actin Gamma 2, Smooth Muscle) Gene |
| title_full | Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS): Series of 4 Cases Caused by Mutation of ACTG2 (Actin Gamma 2, Smooth Muscle) Gene |
| title_fullStr | Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS): Series of 4 Cases Caused by Mutation of ACTG2 (Actin Gamma 2, Smooth Muscle) Gene |
| title_full_unstemmed | Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS): Series of 4 Cases Caused by Mutation of ACTG2 (Actin Gamma 2, Smooth Muscle) Gene |
| title_short | Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS): Series of 4 Cases Caused by Mutation of ACTG2 (Actin Gamma 2, Smooth Muscle) Gene |
| title_sort | megacystis microcolon intestinal hypoperistalsis syndrome mmihs series of 4 cases caused by mutation of actg2 actin gamma 2 smooth muscle gene |
| url | http://dx.doi.org/10.1155/2021/6612983 |
| work_keys_str_mv | AT katarzynaignasiakbudzynska megacystismicrocolonintestinalhypoperistalsissyndromemmihsseriesof4casescausedbymutationofactg2actingamma2smoothmusclegene AT mikołajdanko megacystismicrocolonintestinalhypoperistalsissyndromemmihsseriesof4casescausedbymutationofactg2actingamma2smoothmusclegene AT januszksiazyk megacystismicrocolonintestinalhypoperistalsissyndromemmihsseriesof4casescausedbymutationofactg2actingamma2smoothmusclegene |