title: Familial megacystis microcolon intestinal hypoperistalsis syndrome: a systematic review.
abstract: BACKGROUND
  Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare and severe disorder of functional obstruction affecting bladder and bowel, usually diagnosed in the neonatal period. Over 230 cases have been reported since Berdon and colleagues first described this clinical entity in 1976. The exact pathogenesis of MMIHS is unknown. Familial occurrence of MMIHS has been reported and could offer insight into the aetiology of this disease. The purpose of this study was to systematically review the published literature for the evidence of familial MMIHS and to characterise these presentations.
  
  
  METHODS
  A literature search was performed using the keywords "megacystis microcolon intestinal hypoperistalsis" (1976-2013). 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 47 patients were reported in which familial MMIHS was likely or confirmed. 15 sibling sets were definitively diagnosed with MMIHS (14 pairs and one set of three siblings). Four further index patients with a confirmed diagnosis and also one of the sibling pairs were reported to have a sibling in which MMIHS was probable. Consanguinity between parents was present in four of the confirmed sibling sets and in an additional seven individual cases. The outcome for familial MMIHS is generally poor. Multiple sibling fatalities were frequent and in only one family were both siblings' survivors at the time of reporting.
  
  
  CONCLUSIONS
  Consanguinity between parents and recurrence in siblings indicate that MMIHS is inherited in an autosomal recessive manner. With the advent of next generation sequencing, these familial clusters may be key to determining the genetic basis for MMIHS.
authors: National Children's Research Centre, Our Lady's Children's Hospital, Crumlin, Dublin 12, Ireland.
authors: Danielle
authors: D
authors: Mc Laughlin
authors: Prem
authors: P
authors: Puri
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003106:Colon / Q000002:abnormalities*; D003241:Consanguinity; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007418:Intestinal Pseudo-Obstruction / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D035781:Siblings; D013577:Syndrome; D001743:Urinary Bladder / Q000002:abnormalities*
references: J Pediatr Gastroenterol Nutr. 1997 Jul;25(1):12-9
references: 9226521
references: Dig Dis Sci. 1999 May;44(5):953-9
references: 10235603
references: J Med Genet. 1988 May;25(5):350-1
references: 3385744
references: Eur J Pediatr Surg. 2004 Oct;14(5):362-7
references: 15543490
references: Dig Dis Sci. 2002 Oct;47(10):2298-305
references: 12395903
references: AJR Am J Roentgenol. 1976 May;126(5):957-64
references: 178239
references: Pediatr Dev Pathol. 2010 Jul-Aug;13(4):322-5
references: 20028211
references: Prenat Diagn. 1994 Feb;14(2):153-4
references: 8183852
references: Pediatr Radiol. 2013 Apr;43(4):454-9
references: 22926452
references: Pediatr Radiol. 1983;13(5):294-6
references: 6622092
references: Semin Pediatr Surg. 2012 Nov;21(4):310-8
references: 22985836
references: J Neurosci. 1999 Nov 1;19(21):9298-305
references: 10531434
references: J Pediatr Surg. 2007 Jul;42(7):1288-90
references: 17618899
references: Semin Pediatr Surg. 2005 Feb;14(1):58-63
references: 15770589
references: J Pediatr (Rio J). 1996 Mar-Apr;72(2):109-12
references: 14688964
references: J Med Genet. 1989 Jan;26(1):66-7
references: 2918532
references: Am J Med Genet. 1994 Jan 1;49(1):114-7
references: 7864918
references: Am J Med Genet. 1999 Feb 19;82(5):423-8
references: 10069715
references: J Neurobiol. 2002 Dec;53(4):568-79
references: 12436421
references: Pediatr Surg Int. 1999;15(3-4):272-4
references: 10370043
references: Prenat Diagn. 1990 Jun;10(6):377-87
references: 2217079
references: Gastroenterology. 2001 Aug;121(2):350-7
references: 11487544
references: Gastroenterol Res Pract. 2009;2009:282753
references: 19794822
references: Am J Perinatol. 2003 May;20(4):215-8
references: 12874733
references: Urology. 2002 Oct;60(4):697
references: 12385942
references: J Pediatr Surg. 1984 Apr;19(2):206-8
references: 6726584
references: J Pediatr Urol. 2013 Feb;9(1):e12-8
references: 22749573
references: Br J Radiol. 1980 Mar;53(627):249-52
references: 7378684
references: Transplantation. 1999 Jul 27;68(2):228-32
references: 10440392
references: Pediatr Surg Int. 1996 Apr;11(4):246-7
references: 24057629
references: Pediatr Surg Int. 2011 Oct;27(10):1041-6
references: 21792650
references: Arch Dis Child. 1999 Jul;81(1):21-7
references: 10373127
references: Gynecol Obstet Fertil. 2009 Feb;37(2):115-24
references: 19200766
references: J Med Genet. 1986 Aug;23(4):360-2
references: 3746839
references: J Hum Genet. 2001;46(7):362-6
references: 11450844
references: J Ultrasound Med. 1991 Oct;10(10):599-602
references: 1942228
references: Prenat Diagn. 2000 Sep;20(9):697-700
references: 11015695
references: Cir Pediatr. 2010 Oct;23(4):215-21
references: 21520553
references: Am J Med Genet. 1991 Nov 1;41(2):251-4
references: 1785644
references: J Pediatr Surg. 2008 Feb;43(2):e9-e11
references: 18280270
references: J Med Genet. 1989 Jun;26(6):403-6
references: 2661823
references: Br J Urol. 1992 Oct;70(4):435-8
references: 1450855
references: Am J Med Genet. 1999 Jan 15;82(2):114-22
references: 9934973