Megacystis microcolon intestinal hypoperistalsis syndrome
Other Names for this Disease
- MMIH syndrome
- Berdon syndrome
- Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome
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congenital condition characterized by abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis); very small colon (microcolon); and decreased or absent intestinal movements (intestinal peristalsis). Usual clinical presentation is similar to other neonatal intestinal obstructions: bile stained vomiting and failure to pass meconium (the first bowel movement the baby has). Other intestinal anomalies may be present like intestinal malrotation. Many problems with the urinary tract result from the bladder dysfunction. It is part of a group of conditions caused by changes (mutations) in the ACTG2 gene and is inherited in an autosomal dominant manner. There is currently no cure for MMIHS and treatment is supportive. In the majority of patients total parenteral nutrition is required.Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare
Last updated: 10/28/2015
- Wangler MF. ACTG2-Related Disorders. GeneReviews. June 11, 2015; http://www.ncbi.nlm.nih.gov/books/NBK299311/. Accessed 8/19/2015.
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