Consanguinity and its relevance for the incidence of megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS): systematic review

Pediatr Surg Int. 2019 Feb;35(2):175-180. doi: 10.1007/s00383-018-4390-6. Epub 2018 Nov 1.

Abstract

Background/purpose: Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital and generally fatal cause of functional intestinal obstruction in the newborn. The cause of this syndrome is unknown. Familial occurrence and reports of consanguinity in MMIHS implies that genetic factors may have an important role in the pathogenesis of this syndrome. The aim of the study was to determine the consequence of consanguinity for the incidence of MMIHS.

Methods: A literature search was performed using the keywords "megacystis microcolon intestinal hypoperistalsis" for studies published between 1976 and 2018. Retrieved articles, including additional studies from reference lists, were reviewed for consanguinity between parents and recurrence of MMIHS between siblings. Data were extracted for cases where familial MMIHS was present.

Results: A total of 450 patients with the diagnosis of MMIHS have been reported in the literature. There were 56 (12%) cases in which familial MMIHS was confirmed, 25 families with multiple siblings and 3 families with single affected infant. Of the 25 families with multiple siblings, 22 families had 2 siblings with confirmed MMIHS and 3 families had 3 children each with MMIHS. Consanguinity between parents was confirmed in 30 cases (18 siblings and 12 individual cases). Female-to-male ratio in the 30 patients was 4.4:1.

Conclusion: The occurrence of MMIHS in the offspring of consanguineous parents and recurrence in siblings of healthy parents suggest that MMIHS is an autosomal recessive disorder. Pre-marital and pre-conception counselling of consanguineous populations is recommended to prevent harmful consequences.

Keywords: Berdon syndrome; Megacystis microcolon intestinal hypoperistalsis syndrome.

Publication types

  • Systematic Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Colon / abnormalities*
  • Consanguinity*
  • Humans
  • Incidence
  • Intestinal Pseudo-Obstruction / genetics*
  • Siblings
  • Urinary Bladder / abnormalities*

Supplementary concepts

  • Megacystis microcolon intestinal hypoperistalsis syndrome