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Kalsbeek A, Dhar-Dass R, Hanan A, et al. Five New Cases of Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS), with One Case Showing a Novel Mutation. Fetal Pediatr Pathol. 2021;1-10doi: 10.1080/15513815.2021.1964656.
Kalsbeek, A., Dhar-Dass, R., Hanan, A., Al-Haddad, E., William, I., Alazraki, A., Poulik, J., McCollum, K., Almashad, A., & Shehata, B. M. (2021). Five New Cases of Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS), with One Case Showing a Novel Mutation. Fetal and pediatric pathology, 1-10. https://doi.org/10.1080/15513815.2021.1964656
Kalsbeek, Alyssa, et al. "Five New Cases of Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS), with One Case Showing a Novel Mutation." Fetal and pediatric pathology vol. (2021): 1-10. doi: https://doi.org/10.1080/15513815.2021.1964656
Kalsbeek A, Dhar-Dass R, Hanan A, Al-Haddad E, William I, Alazraki A, Poulik J, McCollum K, Almashad A, Shehata BM. Five New Cases of Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS), with One Case Showing a Novel Mutation. Fetal Pediatr Pathol. 2021 Aug 12;1-10. doi: 10.1080/15513815.2021.1964656. Epub 2021 Aug 12. PMID: 34383618.
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Fetal Pediatr Pathol. 2021 Aug 12;1-10. doi: 10.1080/15513815.2021.1964656. Epub 2021 Aug 12.

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

Fetal and pediatric pathology

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

Affiliations

  1. Department of Pathology, Children's Hospital of Michigan, Detroit, Michigan, USA.

PMID: 34383618 DOI: 10.1080/15513815.2021.1964656

Abstract

BACKGROUND: Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a lethal congenital disorder characterized by a large, non-obstructed bladder, microcolon, and lack of proper peristalsis.

MATERIALS AND METHODS: Five cases of MMIHS were identified, confirmed histologically and were predominantly female (F:M, 4:1). DNA sequencing was also performed.

RESULTS: 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.

CONCLUSION: 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.

Keywords: Megacystis; hypoperistalsis; microcolon

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