Rare Diseases Symptoms Automatic Extraction

Megacystis-microcolon-intestinal hypoperistalsis and prune belly: overlapping syndromes.

[megacystis-microcolon-intestinal hypoperistalsis syndrome]

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare, often fatal condition. Infants present with a functional obstruction of the gastrointestinal tract (GI), malrotation, microcolon, and a large nonobstructed bladder. Several features common to both MMIHS and Eagle-Barrett or prune belly syndrome (PBS) include hydronephrosis, bladder distension and laxity of the abdominal wall musculature. Additionally, MMIHS and PBS have been reported in the same family, suggesting the possibility of a common pathogenesis. MMIHS usually presents in female infants. We present a male infant diagnosed with both MMIHS and PBS. This is a unique case in which both MMIHS and true PBS are present in the same infant.