Journal of Rare Disorders: Diagnosis & Therapy

Antenatal Recognition of Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS): An Impact on Neonatal Prognosis

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) syndrome is an autosomal recessive disorder (in some cases) characterized by a microcolon, a distended non-obstructed bladder, and decreased or absent intestinal peristalsis. MMIHS is not commonly diagnosed in the antenatal period due to its rarity and similarities with other more common antenatal conditions. Late diagnosis is associated with poorer prognosis. Prenatal diagnosis helps parents make decisions about their pregnancy guided by pediatric prenatal consultation regarding interventions and prognosis. Most medical and surgical interventions focus on complications of MMIHS after postnatal diagnosis. This case report discusses the prenatal diagnosis of MMIHS using serial ultrasonography and the early interventions designed foreseeable complications resulting in an extension of life beyond the historical limits.

Crystal Joseph, Amartha Gore, Shealy O’Connell and Ronald Thomas