Imaging findings in megacystis-microcolon-intestinal hypoperistalsis syndrome

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare and frequently lethal form of severe functional intestinal obstruction more commonly found in girls. Imaging features characteristic of this disease include a large dilated bladder, microcolon and intestinal dysmotility. Additional imaging findings may include intestinal malrotation, hydronephrosis and vesicoureteral reflux. It is usually fatal in the first year of life. Because presenting clinical and imaging features can mimic other causes of neonatal bowel obstruction, we compiled examples of this disorder to help the pediatric radiologist recognize imaging findings associated with MMIHS and aid in the development of a long-term management plan and in counseling the family regarding implications of this disorder. We reviewed recent and historical literature relevant to MMIHS and present the imaging and clinical features of four patients with MMIHS treated at our institution as examples of this uncommon disorder.