Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

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

“…Megacystis-microcolon-intestinal hypoperistalsis syndrome is a rare congenital condition that occurs more frequently in women (with a female-to-male ratio of 2-4:1) but presents with greater severity in men [4,7]. Its etiopathogenesis has not been fully understood.…”

“…The main findings of the syndrome are usually accompanied by a spectrum of additional abnormalities that can affect multiple systems. The most frequent are intestinal malrotation, vesicoureteral reflux, and omphalocele [4,9]. Megaesophagus is rarely mentioned within the clinical findings of the syndrome; however, some authors consider that this may be the result of disease involvement or secondary to functional obstruction of the gastrointestinal tract [16,17].…”

“…Megaesophagus will manifest as tortuosity and subjective increase in caliber, often accompanied by gastric reflux. In the barium enema, there will be microcolon, which is manifested by decreased caliber with a usually normal length and alteration in the pattern of haustras [4,5,12]. There is no definitive measure to define microcolon; however, some authors have proposed that a lumen diameter smaller than the height of a lumbar vertebra can be considered microcolon [18].…”

“…It is characterized by gastrointestinal and genitourinary dysmotility, resulting in its main manifestations: megacystis, microcolon, and decreased peristalsis. Additionally, it is often accompanied by multiple alterations, especially gastrointestinal and genitourinary, such as esophageal dilatation, stomach dilatation, dilated loops of the small intestine, intestinal malrotation, urinary tract dilatation, and vesicoureteral reflux [4][5][6][7][8][9]. Most patients are diagnosed after birth, but prenatal diagnosis is possible in up to 25% of cases based on ultrasound findings [4,8].…”

“…Additionally, it is often accompanied by multiple alterations, especially gastrointestinal and genitourinary, such as esophageal dilatation, stomach dilatation, dilated loops of the small intestine, intestinal malrotation, urinary tract dilatation, and vesicoureteral reflux [4][5][6][7][8][9]. Most patients are diagnosed after birth, but prenatal diagnosis is possible in up to 25% of cases based on ultrasound findings [4,8]. Imaging studies are essential for diagnosis, but genetic testing is necessary to detect underlying mutations that may influence prognosis and family counseling [2].…”