An atypical case of megacystis microcolon intestinal hypoperistalsis syndrome with extended survival and consistent bowel function
Journal of Pediatric Surgery Case Reports(2018)
摘要
•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.
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