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 in Romania, a female newborn admitted in NICU “Marie S. Curie” Emergency Children’s Hospital Bucharest for intestinal obstruction after birth. Total parenteral nutrition, ileostomy, gastrostomy, clean intermittent bladder catheterisation, evaluation for multivisceral transplantation were performed. She was discharged from our NICU ward at the age of 4 years and 2 months with home total parenteral nutrition administered by her mother in sterile condition, clean intermittent catheterisation for bladder evacuation performed by her mother, monitored monthly for about three years, with normal cardio-respiratory function, no signs of thrombosis, she maintained relatively low platelet count without positive blood culture, good liver and renal function test. Normal neurological and psychomotor development according to age. Her course was complicated by multiorgan failure with death ensuing at the age of 7 years and 10 months.