Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS) is a rare genetic visceral myopathy, with a historically high mortality rate. Its genetic and phenotypic variability and management op Show more
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS) is a rare genetic visceral myopathy, with a historically high mortality rate. Its genetic and phenotypic variability and management options remain poorly characterized. This study correlates genotype with phenotype and subsequently analyzes treatment and outcome of patients with pediatric-onset MMIHS. We retrospectively analyzed 26 MMIHS patients (median age 97 months, 62% female) with molecular diagnostics in 19 patients at a German quaternary intestinal rehabilitation center followed between 2012 and 2025. In this second-largest pediatric MMIHS cohort worldwide, genotype correlated with severity and outcomes, with Show less