Megacystis microcolon intestinal hypoperistalsis syndrome
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) (also known as the Berdon syndrome) is a rare congenital disorder characterized by a dilated non-obstructive urinary bladder and hypoperistalsis of the gastrointestinal tract.
There is recognized strong female predilection.
The disorder is thought to arise from defects primarily affecting the gastrointestinal and renal tracts 11. It is suggested that intestinal smooth muscle myopathy is responsible for the hypofunctioning intestine. Reduced actin level, degeneration of vacuoles and reduction in cytoskeleton protein have also been described.
The disease carries an autosomal recessive inheritance 2-3 with the gene locus at 15q24 8 although some authors suggest a sporadic occurrence in certain cases reference required.
Direct sonographic findings can include:
- fetal megacystis
- fetal megaureter
- fetal renal pelvic dilatation
- dilatated segments of bowel (including stomach): fetal bowel dilatation
Ancillary sonographic features include:
- presence of polyhydramnios
- presence of normal amniotic volumes in the context of the above renal tract findings
In the context of obstructive-like renal findings, the presence of normal to elevated amniotic fluid volumes may suggest the diagnosis.
Treatment and prognosis
The overall prognosis is considered to be poor and treatment has been shown to be generally ineffective 6. It is usually lethal within the first year of life 3.
History and etymology
First described by W E Berdon in 1976 4.
For antenatal hydronephrosis with hydroureter consider:
- 1. Hidaka N, Kawamata K, Chiba Y. Megacystis-microcolon-intestinal hypoperistalsis syndrome: in utero sonographic appearance and the contribution of vesicocentesis in antenatal diagnosis. J Ultrasound Med. 2006;25 (6): 765-9. J Ultrasound Med (full text) - Pubmed citation
- 2. Carlsson SA, Hökegård KH, Mattsson LA. Megacystis-microcolon-intestinal hypoperistalsis syndrome. Antenatal appearance in two cases. Acta Obstet Gynecol Scand. 1992;71 (8): 645-8. - Pubmed citation
- 3. White SM, Chamberlain P, Hitchcock R et-al. Megacystis-microcolon-intestinal hypoperistalsis syndrome: the difficulties with antenatal diagnosis. Case report and review of the literature. Prenat. Diagn. 2000;20 (9): 697-700. Prenat. Diagn. (link) - Pubmed citation
- 4. Berdon WE, Baker DH, Blanc WA et-al. 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;126 (5): 957-64. AJR Am J Roentgenol (abstract) - Pubmed citation
- 5. Puri P, Shinkai M. Megacystis microcolon intestinal hypoperistalsis syndrome. Semin. Pediatr. Surg. 2005;14 (1): 58-63. Semin. Pediatr. Surg. (link) - Pubmed citation
- 6. Annerén 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. 1991;41 (2): 251-4. doi:10.1002/ajmg.1320410224 - Pubmed citation
- 7. Young LW, Yunis EJ, Girdany BR et-al. Megacystis-microcolon-intestinal hypoperistalsis syndrome: additional clinical, radiologic, surgical, and histopathologic aspects. AJR Am J Roentgenol. 1981;137 (4): 749-55. AJR Am J Roentgenol (abstract) - Pubmed citation
- 8. Chamyan G, Debich-spicer D, Opitz JM et-al. Megacystis-microcolon-intestinal hypoperistalsis syndrome and aganglionosis in trisomy 18. Am. J. Med. Genet. 2001;102 (3): 293-6. Am. J. Med. Genet. (link) - Pubmed citation
- 9. Caire JT, Ramus RM, Magee KP et-al. MRI of fetal genitourinary anomalies. AJR Am J Roentgenol. 2003;181 (5): 1381-5. AJR Am J Roentgenol (full text) - Pubmed citation
- 10. Chen CP, Wang TY, Chuang CY. Sonographic findings in a fetus with megacystis-microcolon-intestinal hypoperistalsis syndrome. J Clin Ultrasound. 1998;26 (4): 217-20. J Clin Ultrasound (link) - Pubmed citation
- 11. Hsu CD, Craig C, Pavlik J et-al. Prenatal diagnosis of megacystis-microcolon-intestinal hypoperistalsis syndrome in one fetus of a twin pregnancy. Am J Perinatol. 2003;20 (4): 215-8. doi:10.1055/s-2003-40610 - Pubmed citation
- 12. Lashley DB, Masliah E, Kaplan GW et-al. Megacystis microcolon intestinal hypoperistalsis syndrome: bladder distension and pyelectasis in the fetus without anatomic outflow obstruction. Urology. 2000;55 (5): 774. Urology (link) - Pubmed citation
- 13. Makhija PS, Magdalene KF, Babu MK. Megacystis microcolon intestinal hypoperistalsis syndrome. Indian J Pediatr. 66 (6): 945-9. - Pubmed citation
- 14. Patel R, Carty H. Megacystis-microcolon-intestinal hypoperistalsis syndrome: a rare cause of intestinal obstruction in the newborn. Br J Radiol. 1980;53 (627): 249-52. doi:10.1259/0007-1285-53-627-249 - Pubmed citation