megacystis-microcolon-intestinal hypoperistalsis syndrome
MIM.249210 15q24
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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
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#