An atypical case of megacystis microcolon intestinal hypoperistalsis syndrome with extended survival and consistent bowel function

摘要

Highlights ? MMIHS is a very rare condition that is associated with high neonatal mortality. Management is mainly supportive. ? MMIHS is diagnosed on prenatal ultrasound that shows megacystis and is associated with mutations in MYH11, LMOD1, and ACTG2. ? MMIHS patients who survive long-term usually require total parenteral nutrition and multiple GI and GU surgeries. ? This MMIHS patient with mutated ACTG2 is unique--she survived past 1 year without TPN and with consistent bowel function.