Megacystis microcolon intestinal hypoperistalsis syndrome overlapping prune belly syndrome

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

Congenital high airway obstruction syndrome (CHAOS) combined with esophageal atresia, tracheoesophageal fistula and duodenal atresia

Congenital high airway obstruction syndrome (CHAOS) is a rare congenital anomaly and the most common etiology is laryngeal atresia. Recently, an increasing number of cases have survived due to prenatal diagnosis and pre- and peri-natal care including ex-utero intrapartum treatment (EXIT). More than 100 cases of CHAOS have been reported, and about half of them were complicated with associated anomalies. Here we report a very rare case of prenatally diagnosed CHAOS (laryngeal atresia) complicated with esophageal atresia, tracheoesophageal fistula (TEF) and duodenal atresia, and the patient was saved by EXIT. This combination of anomalies resulted in a very confusing prenatal diagnosis with unique imaging feature of the fetus