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

- 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.