Megacystis Microcolon Intestinal Hypoperistalsis Syndrome Berdon’s syndrome - First Report in Romania

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS) is a rare motility disorder with high mortality rate described by Berdon in 1976. We present the first case of Berdon’s syndrome (heterozygous pathogenic variant in the ACTG2 gene) reported