megacystis-microcolon-intestinal hypoperistalsis syndrome

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