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Diseases

Genetic and Rare Diseases Information Center (GARD)

Megacystis microcolon intestinal hypoperistalsis syndrome


Other Names for this Disease
  • Berdon syndrome
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome
  • Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome
  • MMIH syndrome
  • MMIHS
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

A few years ago I lost a daughter to megacystis microcolon intestinal hypoperistalsis (MMIH) syndrome. I now have a son and hope that he is fine.  I would like to know if it is possible for my son to get this disease? If this is a genetic problem? How I can prevent a future pregnancy from developing this syndrome? and My chances to have a daughter without MMIH syndrome? Also, a relative of mine was recently diagnosed with leukemia. Is leukemia and MMIH syndrome related?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is megacystis microcolon intestinal hypoperistalsis syndrome?

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by huge abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis), very small colon (microcolon) and decreased or absent intestinal movements (intestinal peristalsis). It is part of a group of conditions caused by alterations (mutations) in the ACTG2 gene. ACTG2-related disorders are a subset of visceral myopathy (a disorder that results in intestinal pseudo-obstruction which is characterised by the signs and symptoms of intestinal obstruction without any real obstruction or lesion inside but with inability of the intestines to push food through) with variable involvement of the bladder and intestine. ACTG2-related disorders are inherited in an autosomal dominant manner. 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. There is no curative treatment for MMIHS and treatment is supportive. In the majority of patients total parenteral nutrition is required.[1]
Last updated: 8/19/2015

What causes megacystis microcolon intestinal hypoperistalsis syndrome?

This condition is part of a group of disorders caused by mutations in the ACTG2 gene. ACTG2-related disorders are inherited in an autosomal dominant manner.[1]
Last updated: 8/19/2015

What are the symptoms of megacystis microcolon intestinal hypoperistalsis syndrome?

Babies with megacystis microcolon intestinal hypoperistalsis syndrome have a distended bladder and functional bowel obstruction (pseudo-obstruction).  Some may also have a shortened and malrotated colon and enlargement (dilatation) of the upper urinary tract.[2][3] Click here to learn more about pseudo-obstruction.
Last updated: 9/24/2013

Can boys get megacystis microcolon intestinal hypoperistalsis syndrome?

Yes. While there have been more reports of females with megacystis microcolon intestinal hypoperistalsis syndrome published in the medical literature, boys with this syndrome have also been reported. At this time it is not certain if females are indeed more likely to develop the syndrome, or if other factors might explain this imbalance (e.g., boys may be more likely to be misdiagnosed or may be more severely affected and less likely to survive to term).[2][3][4]
Last updated: 9/24/2013

I have lost a daughter to megacystis microcolon intestinal hypoperistalsis syndrome. I have since had an infant son. Can my son get this syndrome?

People with megacystis microcolon intestinal hypoperistalsis syndrome have the condition from the time of birth. Most often the symptoms associated with the syndrome are severe and readily discernable very early on (sometimes even prior to birth).[2][3][4] However, if you are concerned that your son may have this syndrome, we strongly recommend that you discuss your concerns with your son’s healthcare provider.
Last updated: 9/24/2013

Is megacystis microcolon intestinal hypoperistalsis syndrome genetic?

Yes. Megacystis microcolon intestinal hypoperistalsis syndrome is thought to be genetic and inherited in an autosomal recessive fashion.[2][3][4]

Autosomal recessive inheritance is when two changed or mutated copies of the gene that causes a disorder are present in each cell. An affected person usually has unaffected parents who each carry a single copy of the mutated gene (and are referred to as carriers). Autosomal recessive disorders are typically not seen in every generation of an affected family. When two people who are carriers of an autosomal recessive condition have a child, there is a 25% (1 in 4) chance that the child will be affected.[5]

Last updated: 9/24/2013

Is genetic testing for megacystis microcolon intestinal hypoperistalsis syndrome currently available?

At this time, the genetic defect that causes megacystis microcolon intestinal hypoperistalsis syndrome has not been identified.[3] As a result, genetic testing is not currently available. 
Last updated: 9/24/2013

How can I prevent having a future pregnancy with megacystis microcolon intestinal hypoperistalsis syndrome? What are my chances of having a daughter without this syndrome?

The optimal time for learning more about your specific risks, and to have a discussion regarding available screening options, testing options, and methods of prevention, is before pregnancy. To do so we recommend that you speak with a genetics professional.  To find a genetics clinic near you, we recommend contacting your primary doctor for a referral. To learn more about what you can expect from a genetic consultation click here.

The following online resources can also help you find a genetics professional in your community: 

Last updated: 9/24/2013

A relative of mine was recently diagnosed with leukemia. Are leukemia and megacystis microcolon hypoperistalsis syndrome related?

We are not aware of any association between leukemia and megacystis microcolon hypoperistalsis syndrome. You can read more about leukemia, including known risk factors, at the National Cancer Institutes Web site at following link.
http://www.cancer.gov/cancertopics/wyntk/leukemia/page6
Last updated: 9/24/2013

References
  • Wangler MF. ACTG2-Related Disorders. GeneReviews. June 11, 2015; http://www.ncbi.nlm.nih.gov/books/NBK299311/. Accessed 8/19/2015.
  • White SM, Chamberlain R, Hitchcock R, Sullivan PB, Boyd PA. Megacystis-microcolon-intestinal hypoperistalsis syndrome: The difficulties with antenatal diagnosis. Case report and review of the literature. Prenat Diagn. 2000;
  • Kohler M, Pease PWB, Upadhyay. Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) in siblings: Case report and review of the literature. Eur J Pediatr Surg. 2004;
  • Puri P, Shinkai M. Megacystis microcolon intestinal hypoperistalsis syndrome. Seminars in Pediatric Surgery. 2005;
  • What are the different ways in which a genetic condition can be inherited?. Genetics Home Reference Web site. September 23, 2013; http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns. Accessed 9/24/2013.
Other Names for this Disease
  • Berdon syndrome
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome
  • Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome
  • MMIH syndrome
  • MMIHS
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.