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megacystis-microcolon-intestinal hypoperistalsis syndrome

MIM.249210 15q24

Monday 19 March 2007

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare and the most severe form of functional intestinal obstruction in the newborn. The major features of this congenital and usually lethal anomaly are abdominal distension, bile-stained vomiting, and absent or decreased bowel peristalsis. Abdominal distension is a consequence of the distended, unobstructed urinary bladder with or without upper urinary tract dilation.

Synopsis

- Most affected children die during first year of life
- Skewed sex ratio - 31 females-to-11 males
- More severe disorder in males
- Small for gestational age

- abdominal distension
- prune belly syndrome (PBS) (#15289943#, #6622092#)
- lax abdominal musculature
- omphalocele
- rare megaesophagus (#10370043#)
- umbilical hernia
- fetal ascites
- functional microcolon
- microileum
- meconial ileus
- neonatal intestinal obstruction (#7378684#)
- malrotation of the gut
- intestinal hypoperistalsis
- short bowel
- abundant intestinal ganglion cells

- megacystis (bladder distension)
- bilateral ureteral dilatation (bilateral hydroureter or megaureters)

  • pyelectasis
  • bilateral obstructive renal dysplasia (BORD) (bilateral obstructivedysplastic kidneys)
  • hydronephrosis

- oligohydramnios
- polyhydramnios

Etiology

- intestinal myopathy (#11793054#, #6834228#)

  • primary myocellular defect of contractile fiber synthesis (#8986997#)

- axonal dystrophy (#1437888#)

- autosomal recessive MMIH syndrome (#15543490#, #1785644#, #2918532#, #3746839#, #1942228#, #2217079#)
- trisomy 18 (#11484210#)

Associations

- multiple cardiac rhabdomyomas (cardiac rhabdomyomatosis or cardiac rhabdomyomata) (#1856835#)
- intrauterine death (#3385744#)
- prune belly syndrome in siblings (#6622092#)
- bilateral renal duplication (bilateral duplex systems) (#12837448#)
- severe psychomotor retardation (#12238913#)
- megaesophagus (#10370043#)

Mouse models

- mice lacking the alpha-3 neuronal nicotinic acetylcholine receptor (#10318955#)

- mice lacking the beta-2 and the beta-4 subunits of neuronal nicotinic acetylcholine receptors (#10531434#)

Case records

- Case record #11183:

References

- Chamyan, G.; Debich-Spicer, D.; Opitz, J. M.; Gilbert-Barness, E. : Megacystis-microcolon-intestinal hypoperistalsis syndrome and aganglionosis in trisomy 18. Am. J. Med. Genet. 102: 293-296, 2001. PubMed ID : #11484210#

- Anneren, G.; Meurling, S.; Olsen, L. : Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), an autosomal recessive disorder: clinical reports and review of the literature. Am. J. Med. Genet. 41: 251-254, 1991. PubMed ID : #1785644#

- Puri, P.; Lake, B. D.; Gorman, F.; O’Donnell, B.; Nixon, H. H. Megacystis-microcolon-intestinal hypoperistalsis syndrome: a visceral myopathy. J. Pediat. Surg. 18: 64-69, 1983. PubMed ID : #6834228#

- Berdon WE, Baker DH, Blanc WA, Gay B, Santulli TV, Donovan C. Megacystis-microcolon-intestinal hypoperistalsis syndrome: a new cause of intestinal obstruction in the newborn. Report of radiologic findings in five newborn girls. AJR Am J Roentgenol. 1976 May;126(5):957-64. PMID: #178239#

Portfolio

  • Syndrome megacystis-microcolon
  • Syndrome megacystis-microcolon
  • Syndrome megacystis-microcolon