Familial megacystis microcolon intestinal hypoperistalsis syndrome: A systematic review

Pediatric Surgery International

Volumn 29, Issue 9, 2013, Pages 947-951

  Mc Laughlin, Danielle ^a,b   Puri, Prem ^a  

^a OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^b CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

Author keywords

Hypoperistalsis autosomal; Megacystis microcolon intestinal; Recessive familial

Indexed keywords

AUTOSOMAL RECESSIVE DISORDER; CONSANGUINITY; ENTEROPATHY; FAMILIAL DISEASE; FAMILIAL MEGACYSTIS MICROCOLON INTESTINAL HYPOPERISTALSIS SYNDROME; FATALITY; HUMAN; INTESTINE OBSTRUCTION; PRIORITY JOURNAL; PROGNOSIS; RECURRENT DISEASE; REVIEW; SIBLING; SURVIVAL;

ABNORMALITIES, MULTIPLE; CHILD; CHILD, PRESCHOOL; COLON; CONSANGUINITY; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; INTESTINAL PSEUDO-OBSTRUCTION; MALE; SIBLINGS; SYNDROME; URINARY BLADDER;

EID: 84883456176     PISSN: 01790358     EISSN: 14379813     Source Type: Journal    
DOI: 10.1007/s00383-013-3357-x     Document Type: Review

References (49)

1. Granata C, Puri P (1997) Megacystis-microcolon-intestinal hypoperistalsis syndrome. J Pediatr Gastroenterol Nutr 25(1):12-19
2. Andres AM, Miguel M, De la Torre C, Barrena S, Ramirez M, Hernandez F, Martinez L, Leal N, Ramos E, Prieto G, Lopez Santamaria M, Tovar JA (2010) Chronic idiopathic intestinal pseudo obstruction and Berdon syndrome: still a diagnostic and therapeutic challenge for the pediatric surgeon. Cir Pediatr 23(4):215-221
3. Kohler M, Pease PW, Upadhyay V (2004) Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) in siblings: case report and review of the literature. Eur J Pediatr Surg 14(5):362-367
4. Raofi V, Beatty E, Testa G, Abcarian H, Oberholzer J, Sankary H, Grevious M, Benedetti E (2008) Combined living-related segmental liver and bowel transplantation for megacystis-microcolon-intestinal hypoperistalsis syndrome. J Pediatr Surg 43(2):e9-e11
5. Berdon WE, Baker DH, Blanc WA, Gay B, Santulli TV, Donovan C (1976) 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 126(5):957-964
6. Winter RM, Knowles SA (1986) Megacystis-microcolon-intestinal hypoperistalsis syndrome: confirmation of autosomal recessive inheritance. J Med Genet 23(4):360-362
7. Patel R, Carty H (1980) Megacystis-microcolon-intestinal hypoperistalsis syndrome: a rare cause of intestinal obstruction in the newborn. Br J Radiol 53(627):249-252
8. Oliveira G, Boechat MI, Ferreira MA (1983) Megacystis-microcolon- intestinal hypoperistalsis syndrome in a newborn girl whose brother had prune belly syndrome: common pathogenesis? Pediatr Radiol 13(5):294-296
9. Farrell SA (1988) Intrauterine death in megacystis-microcolon-intestinal hypoperistalsis syndrome. J Med Genet 25(5):350-351
10. Penman DG, Lilford RJ (1989) The megacystis-microcolon-intestinal hypoperistalsis syndrome: a fatal autosomal recessive condition. J Med Genet 26(1):66-67
11. Young ID, McKeever PA, Brown LA, Lang GD (1989) Prenatal diagnosis of the megacystis-microcolon-intestinal hypoperistalsis syndrome. J Med Genet 26(6):403-406
12. Garber A, Shohat M, Sarti D (1990) Megacystis-microcolon-intestinal hypoperistalsis syndrome in two male siblings. Prenat Diagn 10(6):377-387
13. Anneren G, Meurling S, Olsen L (1991) Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), an autosomal recessive disorder: clinical reports and review of the literature. Am J Med Genet 41(2):251-254
14. Stamm E, King G, Thickman D (1991) Megacystis-microcolon-intestinal hypoperistalsis syndrome: prenatal identification in siblings and review of the literature. J Ultrasound Med 10(10):599-602
15. Hsu CD, Craig C, Pavlik J, Ninios A (2003) Prenatal diagnosis of megacystis-microcolon-intestinal hypoperistalsis syndrome in one fetus of a twin pregnancy. Am J Perinatol 20(4):215-218
16. Lopez-Munoz E, Hernandez-Zarco A, Polanco-Ortiz A, Villa-Morales J, Mateos-Sanchez L (2013) Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS): report of a case with prolonged survival and literature review. J Pediatr Urol 9(1):e12-e18
17. Lozoya Araque T, Vila-Vives JM, Perales-Puchalt A, Soler Ferrero I, Quiroga R, Llorens-Salvador R, Abad Carrascosa A, Perales A (2013) Berdon syndrome: intrauterine diagnosis and postnatal outcome. Diagnostico Prenatal 24(1):23-28
18. Gakmak O, Pektas O, Maden HA (1989) Megacystis-microcolon-intestinal hypoperistalsis syndrome in three siblings. Poster presentation at the Sixth International Congress of Paediatric Surgery, Istanbul
19. Bloom TLK, Kolon TF (2002) Severe megacystis and bilateral hydronephrosis in a female fetus. Urology 60(4):697
20. Goldberg M, Pruchniewski D, Beale PG, Da Fonseca JMB, Davies MRQ (1996) Megacystis-microcolon-intestinal hypoperistalsis syndrome. Pediatr Surg Int 11(4):246-247
21. Guze CD, Hyman PE, Payne VJ (1999) Family studies of infantile visceral myopathy: a congenital myopathic pseudo-obstruction syndrome. Am J Med Genet 82(2):114-122
22. Boissier K, Varlet MN, Chauleur C, Cochin S, Clemenson A, Varlet F, Bellicard E, Chantegret C, Patural H, Seffert P, Chene G (2009) Early fetal megacystis at first trimester: a six-year retrospective study. Gynecol Obstet Fertil 37(2):115-124
23. Kirtane J, Talwalker V, Dastur DK (1984) Megacystis, microcolon, intestinal hypoperistalsis syndrome: possible pathogenesis. J Pediatr Surg 19(2):206-208
24. McNamara HM, Onwude JL, Thornton JG (1994) Megacystis-microcolon- intestinal hypoperistalsis syndrome: a case report supporting autosomal recessive inheritance. Prenat Diagn 14(2):153-154
25. Junior SR, Moreira MA, Modelli ME, Pereira CR (1996) Megacystis- microcolon-intestinal hypoperistalsis syndrome. A case report. J Pediatr (Rio J) 72(2):109-112
26. Al Harbi A, Tawil K, Crankson SJ (1999) Megacystis-microcolon-intestinal hypoperistalsis syndrome associated with megaesophagus. Pediatr Surg Int 15(3-4):272-274
27. White SM, Chamberlain P, Hitchcock R, Sullivan PB, Boyd PA (2000) Megacystis-microcolon-intestinal hypoperistalsis syndrome: the difficulties with antenatal diagnosis. Case report and review of the literature. Prenat Diagn 20(9):697-700
28. Narayanan M, Murphy MS, Ainsworth JR, Arul GS (2007) Mydriasis in association with MMIHS in a female infant: evidence for involvement of the neuronal nicotinic acetylcholine receptor. J Pediatr Surg 42(7):1288-1290
29. Melek M, Edirne Y, Beger B, Cetin M (2009) Megacystis-microcolon- intestinal hypoperistalsis syndrome: a case report. Gastroenterol Res Pract 2009:282753
30. Gosemann JH, Puri P (2011) Megacystis microcolon intestinal hypoperistalsis syndrome: systematic review of outcome. Pediatr Surg Int 27(10):1041-1046
31. Puri P, Gosemann JH (2012) Variants of Hirsch sprung disease. Semin Pediatr Surg 21(4):310-318
32. Ballisty MM, Braithwaite KA, Shehata BM, Dickson PN (2013) Imaging findings in megacystis-microcolon-intestinal hypoperistalsis syndrome. Pediatr Radiol 43(4):454-459
33. Puri P, Shinkai M (2005) Megacystis microcolon intestinal hypoperistalsis syndrome. Semin Pediatr Surg 14(1):58-63
34. Stoltenberg C, Magnus P, Skrondal A, Lie RT (1999) Consanguinity and recurrence risk of birth defects: a population-based study. Am J Med Genet 82(5):423-428
35. Stoll C, Alembik Y, Dott B, Feingold J (1994) Parental consanguinity as a cause of increased incidence of birth defects in a study of 131,760 consecutive births. Am J Med Genet 49(1):114-117
36. Bittles AH (1994) The role and significance of consanguinity as a demographic variable. Popul Dev Rev 20(3):561-584
37. McKusick V (2001) Megacystis-microcolon-intestinal hypoperistalsis syndrome. Online mendelian inheritance in man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, MD) and NCBI, National Library of Medicine (Bethesda, MD). http://www.ncbi.nlm.nih.gov/omim/ 249210#Inheritance-249210
38. McKusick VA (1998) Mendelian inheritance in man, A catalog of human genes and genetic disorders, 12th edn. Johns Hopkins University Press, Baltimore
39. Mousa H, Hyman PE, Cocjin J, Flores AF, Di Lorenzo C (2002) Long-term outcome of congenital intestinal pseudo obstruction. Dig Dis Sci 47(10):2298-2305
40. Higman D, Peters P, Stewart M (1992) Familial hollow visceral myopathy with varying urological manifestations. Br J Urol 70(4):435-438
41. Faure C, Goulet O, Ategbo S, Breton A, Tounian P, Ginies JL, Roquelaure B, Despres C, Scaillon M, Maurage C, Paquot I, Hermier M, De Napoli S, Dabadie A, Huet F, Baudon JJ, Larchet M (1999) Chronic intestinal pseudo obstruction syndrome: clinical analysis, outcome, and prognosis in 105 children. Dig Dis Sci 44(5):953-959
42. Heneyke S, Smith VV, Spitz L, Milla PJ (1999) Chronic intestinal pseudo-obstruction: treatment and long term follow up of 44 patients. Arch Dis Child 81(1):21-27
43. Masetti M, Rodriguez MM, Thompson JF, Pinna AD, Kato T, Romaguera RL, Nery JR, DeFaria W, Khan MF, Verzaro R, Ruiz P, Tzakis AG (1999) Multivisceral transplantation for megacystis microcolon intestinal hypoperistalsis syndrome. Transplant 68(2):228-232
44. Harper P (2010) Practical genetic counselling, 7th edn. Arnold, London
45. De Biasi M (2002) Nicotinic mechanisms in the autonomic control of organ systems. J Neurobiol 53(4):568-579
46. Xu W, Orr-Urtreger A, Nigro F, Gelber S, Sutcliffe CB, Armstrong D, Patrick JW, Role LW, Beaudet AL, De Biasi M (1999) Multiorgan autonomic dysfunction in mice lacking the β2 and the β4 subunits of neuronal nicotinic acetylcholine receptors. J Neurosci 19(21):9298-9305
47. Richardson CE, Morgan JM, Jasani B, Green JT, Rhodes J, Williams GT, Lindstrom J, Wonnacott S, Thomas GA, Smith V (2001) Megacystis-microcolon- intestinal hypoperistalsis syndrome and the absence of the alpha3 nicotinic acetylcholine receptor subunit. Gastroenterol 121(2):350-357
48. Lev-Lehman E, Bercovich D, Xu W, Stockton DW, Beaudet AL (2001) Characterization of the human beta4 nAChR gene and polymorphisms in CHRNA3 and CHRNB4. J Hum Genet 46(7):362-366
49. Szigeti R, Chumpitazi BP, Finegold MJ, Ranganathan S, Craigen WJ, Carter BA, Tatevian N (2010) Absent smooth muscle actin immunoreactivity of the small bowel muscularis propria circular layer in association with chromosome 15q11 deletion in megacystis-microcolon-intestinal hypoperistalsis syndrome. Pediatr Dev Pathol 13(4):322-325