Home > D. Systemic pathology > Genetic and developmental anomalies > megacystis-microcolon-intestinal hypoperistalsis syndrome

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)

- 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

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