Antenatal discovery of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) at 12 weeks gestation;Découverte anténatale à 12 semaines d'aménorrhée d'un syndrome «intestinal hypoperistalsis mégacystis-microcolon» (MMIHS)

Journal de Gynecologie Obstetrique et Biologie de la Reproduction

Volumn 33, Issue 5, 2004, Pages 444-449

  Cuillier, F ^a   Cartault, F ^a   Riviere J P ^a   Tuaillon, J ^a  

^a Centre Hospitalier Departemental Felix Guyon   (France)

Author keywords

MMIH syndrome; Prenatal diagnosis

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; ECHOGRAPHY; FEMALE; FETUS; GENE LOCUS; HUMAN; INTESTINE MALFORMATION; MEGACYSTIC MICROCOLON INTESTINAL HYPOPERISTALSIS SYNDROME; PRENATAL CARE; PRENATAL DIAGNOSIS; RARE DISEASE; SYNDROME DELINEATION;

EID: 4544360628     PISSN: 03682315     EISSN: None     Source Type: Journal    
DOI: 10.1016/s0368-2315(04)96553-2     Document Type: Article

References (36)

1. Favre R, Kohler M, Gasser B, Muller F, Nisand I. Early fetal megacystis between 11 and 15 weeks of gestation. Ultrasound Obstet Gynecol 1999; 14: 402-6.
2. Berdon WE, Baker DH, Blanc WA, Gay B, Santulli TV, Donovan C. Megacystis-microsolon-intestinal hypoperistalsis syndrome: a new case of intestinal hyopoeristalsis syndrome: a new case of intestinal obstruction in the newborn: report of radiologic findings in five newborn girls. Am J Roentgen 1976; 126: 957-64.
3. Hoshino T, Iharaa Y, Shirane H, Ota T. Prenatal diagnosis of prune belly syndrome at 12 weeks of pregnancy: case report and review of the literature. Prenat Diagn 1998; 12: 362-6.
4. Roth P, Clainquart N, Clerc-Bertin F, Teffaud O, Bawad F, Schaal JP, Maillet R. Diagnostic des masses kystiques abdominales du fœtus. Med Foet Echo Gyn 2000; 42: 9-20.
5. Chamyan G, Debich-Spicer D, Opitz JM, Gilbert-Barness E. Megacystis-Microcolon-intestinal hypoperistalsis syndrome and aganglionosis in trisomy 18. Am J Med Genet 2001; 15: 293-6.
6. McHugo JO, Whittle M. Enlarged fetal bladders: aetiology, management and outcome. Prenat Diagn 2001; 21: 958-63.
7. Romero R, Pilu G, Jeanty P. Prenatal diagnosis of congenital anomalies. Appleton and Lange. Norwalk, San Francisco. Megacystis-Microcolon-Intestinal Hypoperistalsis syndrome, pp 291-2.
8. Vezina WC, Morin FR, Winsberg F. Megacystis-microcolon-intestinal hypoperistalsis syndrome: antenatal ultrasound. AJR Am J Roentgenol 1979; 133: 749-50.
9. Chung MY, Huang CB, Chuang JH, Ko SF, Chen L. Megacystis-microcolon- intestinal hypoperistalsis syndrome (MMIHS): a case report. Chang Keng I Hsueh 1998; 21: 92-6.
10. Gurgan T, Zeyneloglu HY, Develioglu O, Urman B. Megacystis microcolon intestinal hypoperistalsis syndrome: antenatal ultrasound appearance. A case report. Asia Oceania J Obstet Gynaecol 1993; 19: 383-6.
11. Shalev J, Itzchak Y, Avigad I, Hertz M, Straus S, Serr DM. Antenatal ultrasound appearance of megacystis microcolon intestinal hypoperistalsis syndrome. Isr J Med Sci 1983; 19: 76-8.
12. Manco LG, Osterdahl P. The antenatal sonographic features of megacystis-microcolon-intestinal hypoperistalsis syndrome. JCU J Clin Ultrasound 1984; 12: 595-8.
13. Vintzileos AM, Eisenfeld LI, Herson VC, Ingardia CJ, Feinstein SJ, Lodeiro JG. Megacystis-microcolon-intestinal hypoperistalsis syndrome. Prenatal sonographic findings and review of the literature. Am J Perinatol 1986; 3: 297-302.
14. Young ID, McKeever PA, Brown LA, Lang GD. Prenatal diagnosis of the megacystis-microcolon-intestinal hypoperistalsis syndrome. J Med Genet 1989; 26: 403-6.
15. Carlsson SA, Hokegard KH, Mattsson LA. Megacystis-microcolon-intestinal hypoperistalsis syndrome. Antenatal appearance in two cases. Acta Obstet Gynecol Scand 1992; 71: 645-8.
16. Stamm E, King G, Thickman D. Megacystis-microcolon-intestinal hypoperistalsis syndrome: prenatal identification in siblings and review of the literature. J Ultrasound Med 1991; 10: 599-602.
17. Yigit S, Barlas C, Yurdakok M, Onderoglu L, Zafer Y, Saltik I. The megacystis-microcolon-intestinal hypoperistalsis syndrome: report of a case and review of the literature. Turk J Pediatr 1996; 38: 137-41.
18. Ferrell SA. Intrauterine death in megacystis-microcolon-intestinal hyopoeristalsis syndrome. J Med Genet 1988; 25: 350-1.
19. Willard DA, Gabriele OF. Megacystis-microcolon-intestinal hypoperistalsis syndrome in a male infant. JCU J Clin Ultrasound 1986; 14: 481-5.
20. Krook PM. Megacystis-microcolon-intestinal hypoperistalsis syndrome in a male infant. Radiology 1980; 136: 649-50.
21. Srikanth MS, Ford EG, Isaacs H Jr, Mahour GH. Megacystis microcolon intestinal hypoperistalsis syndrome: late sequelae and possible pathogenesis. J Pediatr Surg 1993; 28: 957-9.
22. Rolle U, O'Briain S, Pearl RH, Puri P. Megacystis-microcolon-intestinal hypoperistalsis syndrome: evidence of intestinal myopayhy. Pediatr Surg Int 2002; 18: 2-5.
23. Balkan E, Noyan S, Sirmali S, Dogruyol H. Does maternal drug ingestion cause megacystis microcolon intestinal hypoperistalsis syndrome? III. Ethanol trial. Clin Exp Obstet Gynecol 1999; 26: 237-41.
24. Balkan E, Noyan S, Sirmali S, Dogruyol H. Does maternal drug ingestion cause megacystis microcolon intestinal hypoperistalsis syndrome? III. bromide trial. Clin Exp Obstet Gynecol 1999; 26: 232-6.
25. Hirato J, Nakazato Y, Koyama H, Yamada A, Suzuki N, Kuroiwa M, Takahashi A, Matsuyama S, Asayama K. Encephalopathy in megacystis-microcolon-intestinal hypoperistalsis syndrome patients on long-term total parenteral nutrition possibly due to selenium deficiency. Acta Neuropathol 2003; 106: 234-42.
26. Chung MY, Huang CB, Chuang JH, Ko SF, Chen L. Megacystis-microcolon- intestinal hypoperistalsis syndrome (MMIHS): a case report. Chang Keng I Hsueh 1998; 21: 92-6.
27. Ozok G, Erdener A, Herek O, Tuncyurek M, Alkanat M, Gokdemir A. Microcolon-intestinal hypoperistalsis without megacystis: uncommon form of neonatal intestinal pseudoobstruction. Eur J Pediatr Surg 1995; 5: 124-7.
28. Al-Rayess M, Ambler MW. Axonal dystrophy presenting as the megacystis-microcolon-intestinal hypoperistalsis syndrome. Pediatr Pathol 1992; 12: 743-50.
29. Ciftci AO, Cook RC, van Velzen D. Megacystis microcolon intestinal hypoperistalsis syndrome: evidence of a primary myocellular defect of contractile fiber synthesis. J Pediatr Surg 1996; 31: 1706-11.
30. Couper RT, Byard RW, Cutz E, Stringer DA, Durie PR. Cardiac rhabdomyomata and megacystis-microcolon-intestinal hypoperistalsis syndrome. J Med Genet 1991; 28: 274-6.
31. White SM, Chamberlain P, Hitchcock R, Sullivan PB, Boyd PA. Megacystis-Microcolon-Intestinal hypoperistalsis syndrome: the difficulties with antenatal diagnosis: case report and review of the literature. Prenat Diagn 2000; 20: 697-700.
32. Writters I, Theyskens C, van Hoestenberghe R, Sierath P, Gyselaers W, Fryns JP. Prenatal dignosis of non-obstructive megacystis as part of the megacystis-microcolon-intestinal hypoperistalsis syndrome with favourable potsnatal come. Prenat Diagn 2001; 21: 701-6.
33. Chih-Ping C, Schu-Rern C, Chen-Chi L, Dai-Dyi T. Isochromosome 18q in a fetus with congenital megacystis intra-uterine growth retardation and cloacal dysgenensis sequence. Prenat Diagn 1998; 18: 1068-74.
34. McNamara HM, Onwude JL, Thornton JG. Megacystis-microcolon-intestinal hypoperistalsis syndrome: a case report supporting autosomal recessive inheritance. Prenat Diagn 1994; 14: 153-4.
35. Winter RM, Knowles SAS. Megacystis-microcolon-intestinal hypoperistalsis syndrome: confirmation of autosomal recessive inheritance. J Med Genet 1986; 23: 360-2.
36. Hsu CD, Caig G, Pavlik J, Ninios A. Prenatal diagnosis of megacystis-microcolon-intestinal hypoperistalsis syndrome in one fetus of a twin pregnancy. Am J Perinatol 2003; 20: 215-8.