Megacystis microcolon intestinal hypoperistalsis syndrome presenting as acute intestinal obstruction in 4-days male neonate: A rare case report

We report a case of megacystis microcolon intestinal hypoperistalsis syndrome in a 4-days old male neonate. The patient presented with abdominal distension due to intestinal obstruction and massive enlargement of the urinary bladder and was misdiagnosed as the mesenteric cyst on ultrasonography abdomen. The aim of this report is to highlight the fact that due to the rarity of this syndrome, it can be missed in the emergency room and a high index of suspicion should be kept for timely intervention


[1]Berdon WE, Baker DH, Blanc WA, Gay B, Santulli TV, Donovan C. Megacystismicrocolon-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.

[2]Mantan M, Singhal KK, Sethi GR, Aggarwal SK. Megacystis, microcolon, intestinal hypoperistalsis syndrome and bilateral streak gonads. Indian J Nephrol. 2011;21(3):212-4.

[3]López-Muñoz E, Hernández-Zarco A, Polanco-Ortiz A, Villa-Morales J, MateosSánchez L. Megacystis-microcolonintestinal hypoperistalsis syndrome (MMIHS): report of a case with prolonged survival and literature review. J Pediatr Urol. 2013;9(1):e12-8.

[4]Al-Salem, Ahmed H. Megacystis microcolon intestinal hypoperistalsis syndrome: a report of a variant. Ann Pediatr Surg. 2014;10(2):57–60.

[5]De Sousa J, Upadhyay V, Stone P. Megacystis Microcolon Intestinal Hypoperistalsis Syndrome: Case Reports and Discussion of the Literature. Fetal Diagn Ther. 2016;39(2):152-7.

[6]Halim D, Wilson MP, Oliver D, et al. Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice. Proc Natl Acad Sci U S A. 2017;114(13):E2739- E2747.

[7]Gosemann JH, Puri P. Megacystis microcolon intestinal hypoperistalsis syndrome: systematic review of outcome. Pediatr Surg Int. 2011;27(10):1041-6

[8]Tuzovic L, Anyane-Yeboa K, Mills A, Glassberg K, Miller R. Megacystismicrocolon-intestinal hypoperistalsis syndrome: case report and review of prenatal ultrasonographic findings. Fetal Diagn Ther. 2014;36(1):74-80.

[9]Puri P, Shinkai M. Megacystis microcolon intestinal hypoperistalsis syndrome. Semin Pediatr Surg. 2005 Feb;14(1):58-63.

[10]Wymer KM, Anderson BB, Wilkens AA, Gundeti MS. Megacystis microcolonintestinal hypoperistalsis syndrome: Case series and updated review of the literature with an emphasis on urologic management. J Pediatr Surg. 2016;51(9):1565-73.

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