Megacystis-microcolon-intestinal hypoperistalsis syndrome (neonatal hollow visceral myopathy)

Abstract

A review of the literature reveals that 59 cases of megacystis-microcolon-intestinal hypoperistalsis syndrome have been reported to date. There were 46 females and 13 males. The clinical presentation is characterised by abdominal distension, bile-stained vomiting, and absent or decreased bowel sounds. The most frequent radiologic or operative findings were a massively distended urinary bladder and microcolon. The neuronal innervation of bowel and bladder was normal in the vast majority of cases. Electron microscopy of bowel and bladder showed vacuolar degenerative changes in the smooth-muscle cells with abundant amounts of connective tissue between muscle cells. The outcome of the syndrome is poor; 51 (87%) of the 59 reported cases have died. Six of the 8 survivors are dependent on total parenteral nutrition. The occurrence of this condition in eight sets of affected siblings together with consanguinity in three sets of parents strongly suggests an autosomal recessive pattern of inheritance for this syndrome.