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      Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: A Case Report

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          Megacystis Microcolon Intestinal Hypoperistalsis Syndrom (MMIHS) is a quite rare congenital and fatal disease which was firstly defined by Berdon and his colleagues. It appears through a widely enlarged bladder and microcolon and its cause is unknown (Berdon et al., 1976; Carmelo et al., 2005; Makhija et al., 1999; Loening-Baucke and Kimura 1999; Redman et al., 1984; Hsu et al., 2003; Yigit et al., 1996; Srikanth et al., 1993). The disease is found in females three or four times more than in males (Srikanth et al., 1993; Sen et al., 1993; Hirato et al., 2003). Most of the cases die within the early months of their lives (Yigit et al., 1996; Srikanth et al., 1993; Sen et al., 1993; Hirato et al., 2003). We present the case of a female newborn with antenatal ultrasound revealing intestinal mass and bilateral hydroureteronephrosis. The case was admitted for intestinal obstruction after birth.

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          Failure to pass meconium: diagnosing neonatal intestinal obstruction.

          Timely passage of the first stool is a hallmark of the well-being of the newborn infant. Failure of a full-term newborn to pass meconium in the first 24 hours may signal intestinal obstruction. Lower intestinal obstruction may be associated with disorders such as Hirschsprung's disease, anorectal malformations, meconium plug syndrome, small left colon syndrome, hypoganglionosis, neuronal intestinal dysplasia and megacystis-microcolon-intestinal hypoperistalsis syndrome. Radiologic studies are usually required to make the diagnosis. In addition, specific tests such as pelvic magnetic resonance imaging, anorectal manometry and rectal biopsy are helpful in the evaluation of newborns with failure to pass meconium.
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            Megacystis-microcolon-intestinal hypoperistalsis syndrome: a visceral myopathy.

            Two newborn infants with megacystis-microcolon-intestinal hypoperistalsis syndrome are described. Review of the literature revealed twenty previously reported cases of this syndrome. Electron microscopic examination of the ileum and urinary bladder showed vacuolar degenerative changes in the smooth muscle cells with abundant amount of connective tissue between the muscle cells. These ultrastructural findings suggest that a degenerative disease of smooth muscle may be the cause of megacystis microcolon intestinal hypoperistalsis syndrome.
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              Megacystis microcolon intestinal hypoperistalsis syndrome: evidence of a primary myocellular defect of contractile fiber synthesis.

              Two infant boys with megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) are reported. Presenting with neonatal intestinal obstruction, they underwent laparotomies that showed megacystis, microcolon, and aperistaltic shortened small bowel without any mechanical obstruction. Patient 1 gradually improved and is developing normally at home, on a normal diet without genitourinary or gastrointestinal complaints (now 11 years old). Patient 2, who underwent vesicoamniotic drainage antenatally, never developed adequate gastrointestinal or genitourinary function in spite of appropriate diversion and pharmacologic support. He showed progressive deterioration and died at the age of 7 months. Detailed histo-immuno- and ultrastructural pathology assessment, although confirming results in the existing literature in some aspects, showed previously unreported neuronal dysplastic changes associated with increased laminin and fibronectin. Although patient 1 showed ultrastructural features of vacuolar degeneration of smooth muscle as reported in the literature, patient 2 showed ultrastructural and histochemical evidence of excessive smooth muscle cell glycogen storage with severely reduced contractile fibres displaced to the extreme periphery of the cells, suggesting a fundamental defect of glycogen-energy utilization. A deficiency of fiber synthesis as the alternative primary defect is discussed. In both cases, a two-step genetic defect may explain the variability in clinical outcome and pathological findings.

                Author and article information

                Gastroenterol Res Pract
                Gastroenterology Research and Practice
                Hindawi Publishing Corporation
                24 September 2009
                : 2009
                1Department of Pediatric Surgery, Yuzuncu Yil University, 65100 Van, Turkey
                2Department of Pediatry, Yuzuncu Yil University, 65100 Van, Turkey
                Author notes

                Recommended by Ronnie Fass

                Copyright © 2009 Mehmet Melek et al.

                This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                Case Report

                Gastroenterology & Hepatology


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