There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.
Abstract
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.