Megacystis microcolon intestinal hypoperistalsis syndrome: a case report

Abstract

Megacystis microcolon intestinal hypoperistalsis (MMIH) syndrome is an uncommon congenital condition characterized by a distended urinary bladder, a small hypo-functioning colon and reduced bowel peristalsis that results in functional intestinal obstruction.
Due to its variability in presentation, it can present with significant overlap with other more common diagnoses such as prune belly syndrome. The result is late diagnosis with significant morbidity and mortality. It additionally presents an appreciable challenge in management.
We report a case of a 32-week-old female preterm infant with a second trimester prenatal diagnosis of bladder outlet obstruction. Postnatally, she had failure to pass urine and meconium and inability to advance enteral feeds. Following a diagnostic conundrum, a diagnosis of MMIH syndrome was made two days to her demise.