Rare Diseases Symptoms Automatic Extraction

An antenatal appearance of megacystis-microcolon-intestinal hypoperistalsis syndrome.

[megacystis-microcolon-intestinal hypoperistalsis syndrome]

We herein present a megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) case followed by ultrasound (US) examinations before birth. During the prenatal US examination of a 34-year-old woman, an enlarged bladder with bilateral hydronephrosis and hydroureter of the fetus were detected. The amniotic fluid was normal in the second trimester but polyhydramnios was observed in the third trimester. A female baby was born by cesarian section weighing 2632 g. Imaging studies detected an enlarged bladder with bilateral hydronephrosis, hydroureter and microcolon. Laparotomy on the 9th day confirmed a short small bowel with caliber change and the existence of ganglion cells and plexus of the nerve in the intestine. These findings correlated with the previously reported characteristics of MMIHS. An enlarged bladder in the second trimester and polyhydramnios in the third trimester have been reported in many cases of MMIHS. These findings may thus help to accurately diagnose MMIHS before birth.