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

• Published in: Fetal and pediatric pathology Vol. 41; no. 5; pp. 749 - 758
• Main Authors: Kalsbeek, Alyssa, Dhar-Dass, Renee, Hanan, Abdul, Al-Haddad, Eman, William, Iman, Alazraki, Adina, Poulik, Janet, McCollum, Kasey, Almashad, Aya, Shehata, Bahig M.
• Format: Journal Article
• Language: English
• Published: Taylor & Francis 04.08.2021
• Subjects: hypoperistalsis; Megacystis; microcolon
• DOI: 10.1080/15513815.2021.1964656
• ISSN: 1551-3815

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a lethal congenital disorder characterized by a large, non-obstructed bladder, microcolon, and lack of proper peristalsis. Five cases of MMIHS were identified, confirmed histologically and were predominantly female (F:M, 4:1). DNA sequencing was also performed. Four cases showed mutations in the α3 and β4 nicotinic acetylcholine receptor (ηAChR) subunits (CHRNA3 and CHRNB4, respectively) on chromosome 15q24. The 5th case had a delayed clinical presentation of intussusception at 11 months and showed a novel missense mutation in ATP2B4 on Chromosome 1q32. 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.