Prenatal ultrasonographic diagnosis of megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS)

Background: MMIHS is a system disorder with variable prognosis. Due to the lack of an early diagnosis infants with MMIHS frequently require surgery due to presumed intestinal obstruction.

Aim: To establish criteria which enable prenatal diagnosis.

Case report: During prenatal ultrasonography dilatation of the bladder and the ureters were seen at 32 weeks of gestation in the fetus of a 31 year old GII/PI with an otherwise unremarkable course of pregnancy. Additionally dilated bowel loops were visible without an obvious reason for intestinal obstruction. A Medline search for the combination of renal and intestinal obstruction led to the presumed diagnosis of MMIHS. As far as we are aware there is no other fetal systemic disease presenting in a similar way in utero. While most cases reported in literature run a severe or fatal course during the first months of life, our case showed nearly normal intestinal passage under conservative management, so far without the need of surgical intervention at the age of 8 months.

Conclusions: Detection of the combined obstruction of renal and intestinal structures should alert doctors involved in prenatal diagnosis towards the potential diagnosis of MMIHS. The major benefit for infants with MMIHS would be a structured conservative management of the disease and the avoidance of unnecessary surgery.