Five New Cases of Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS), with One Case Showing a Novel Mutation.

Alyssa Kalsbeek, Renee Dhar-Dass,Abdul Hanan,Eman Al-Haddad, Iman William,Adina Alazraki,Janet Poulik, Kasey McCollum, Aya Almashad,Bahig M Shehata

Fetal and pediatric pathology（2022）

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摘要

The first four patients showed a previously identified mutation. The 5th patient shows a novel mutation in ATP2B4. This novel gene was associated with a less severe presentation and increases success of multiorgan transplant than the other four patients. This highlights how identifying various mutations may impact prognosis and clinical treatment plans for MMIHS patients.

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Megacystis,hypoperistalsis,microcolon

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