Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: A Case Report of an Uncommon Condition

Cureus. 2024 Feb 15;16(2):e54255. doi: 10.7759/cureus.54255. eCollection 2024 Feb.

Abstract

The megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), also known as Berdon syndrome, is a rare congenital condition that falls within the spectrum of visceral myopathies. It is characterized by the presence of megacystis, microcolon, and hypoperistalsis, which are secondary to gastrointestinal and urinary system dysmotility. It is frequently associated with other alterations in the gastrointestinal and genitourinary tracts. Although it is possible to make the diagnosis in the prenatal period, most cases are diagnosed after birth through genetic and imaging studies. Advances in treatment have led to a progressive increase in survival rates. We present the case of a newborn with congenital alterations described prenatally and with imaging findings characteristic of the syndrome.

Keywords: diagnostic imaging; intestinal pseudo-obstruction; megacystis microcolon intestinal hypoperistalsis syndrome; microcolon; pediatric surgery.

Publication types

  • Case Reports