MMIH Syndrome Symptoms and Diagnosis

Doctor checking a newborn
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Megacystis microcolon intestinal hypoperistalsis syndrome (MMIH), also known as Berdon syndrome, results from a disorder of the smooth muscle in the abdomen and digestive system. The disorder prevents the stomach, intestines, kidneys, and bladder from functioning correctly.

It is not known exactly how or why MMIH syndrome occurs. Some researchers believe it is inherited since there have been cases of siblings being affected. Almost all of the known cases are in girls. One reason this might be is that MMIH may be misdiagnosed as prune belly syndrome, especially in boys.


The symptoms of MMIH result from its underlying smooth muscle disorder. The muscles of the internal organs are lax and do not develop properly in utero. Symptoms of MMIH are:

  • Megacystis - a giant bladder that is weak
  • Mmicrocolon - a too-small large intestine
  • Intestinal hypoperistalsis - the small intestine is wide and its weak muscles don't pass food through very well

The abdominal muscles are flabby, making the baby's belly look wrinkled, like a prune. The hypoperistalsis leads to constipation and blockage of the intestines.


MMIH is difficult to diagnose before the baby is born. Abnormal internal organs such as an enlarged and non-obstructed bladder may be seen on fetal ultrasound, but it may not be clear that the child has MMIH, unless the child had a sibling with the disorder. Once the baby is born, physical examination and ultrasound can determine if MMIH exists.

In the physical examination, doctors will be looking for the following presentation of symptoms an early indication of the condition:

  • A ballooned or enlarged abdomen
  • Bile-stained vomiting and failure to pass meconium (the dark green substance forming the first feces of a newborn infant).
  • Various visceral nervous system abnormalities (that control smooth muscle, cardiac muscle, and gland cells)
  • Digestive tract issues including microcolon, malrotation of the gut, and short bowel.
  • Malformations of the urinary tract
  • Undescended testis in some cases


Unfortunately, there is no cure for MMIH (Berdon Syndrome), and the outlook is poor for infants born with it; most die within the first year of life. Infants can be fed intravenously with special mixtures, but this type of therapy often causes liver failure.

Physicians have attempted to replace all of the defective internal organs in infants with MMIH by transplantation. An article in the journal Transplantation in 1999 reported on 3 girls with MMIH who received multi-organ transplantations. The transplants failed in one child, who died; one child died 17 months later from pneumonia, but the third child was alive and well at the time of the article.

Another attempt at multi-organ transplantation for MMIH took place on January 31, 2004. Alessia Di Matteo, of Genoa, Italy, received eight organs from another infant: the liver, stomach, pancreas, small intestine, large intestine, spleen, and two kidneys. Doctors at University of Miami/Jackson Memorial Hospital, where the surgery was done, reported 7 weeks later that Alessia was doing well. She will need to continue taking anti-rejection drugs for the rest of her life, but her parents consider that a small price to pay for the gift of life she's been given.

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Article Sources

  • Brecher, E. J. Baby gets 8 new organs in Miami. The Miami Herald, Friday, March 19, 2004.
  • InfoBiogen. Megacystis-microcolon-intestinal-hypoperistalsis syndrome.
  • Masetti, M., Rodrigues, M. M., Thompson, J. F., Pinna, A. D., Kato, T., Romaguera, R. l., Nery, J. R., De Faria W., Khan, M. F., Verzaro, R., Ruiz, P., Tzakis, A. G. (1999). Multivisceral transplantation for megacystis microcolon intestinal hypoperistalsis syndrome. Transplantation, 68(2), pp. 228-232.