Megacystis microcolon intestinal hypoperistalsis syndrome overlapping prune belly syndrome

Abstract

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital visceral myopathy. We experienced a case of an infant with MMIHS with prune belly syndrome (PBS). A pregnant woman was transferred at 16 gestational weeks for a cyst in the fetal bladder. Fetal bladder punctures and a vesicoamniotic shunting were performed. At 31 gestational weeks, a male preterm infant weighing 2432 g was born. After birth, a urinary catheter was inserted through the hole left by the fetal shunt. Bilateral undescended testicles, a dilated urinary tract, and deficient abdominal wall musculature compatible with PBS were also found. On day 5, microcolon and non-obstructive urethra were diagnosed by radiography. An upper gastrointestinal examination showed no movement of the stomach or intestine. Based on these findings, MMIHS was diagnosed. On day 76, a gastrostomy and ileostomy were performed. The histological findings showed no abnormality of the nerve plexus. The infant died at age 4 months. Fatty degeneration of the liver was found at autopsy. MMIHS has a bad prognosis due to liver dysfunction. Our patient had severe progressive liver dysfunction and symptoms of PBS. We speculate that MMIHS and PBS might fall along the same disease spectrum.

Keywords

• Fetal vesicoamniotic shunt
• Megacystis microcolon intestinal hypoperistalsis syndrome
• Prune belly syndrome