2021 Volume 57 Issue 2 Pages 395-398
We report a case of a male baby with Megacystis microcolon intestinal hypoperistalsis syndrome（MMIHS）that was not diagnosed prenatally despite presenting with a megacystis.
A male fetus was referred to our hospital at 34 weeks of gestation because routine fetal ultrasound scan revealed a cyst in his abdominal cavity at 30 weeks of gestation, which was subsequently diagnosed as a megacystis with bilateral hydronephrosis at 32 weeks of gestation. Although lower urethral obstruction（LUTO）was suspected, the amniotic fluid volume was normal and MRI examination showed no abnormality in his urethra, though mild gastric dilatation was observed. He was born at 38 weeks and 6 days of gestation with birth weight 3,032 g. A large amount of bilious gastric juice was aspirated at birth. He was diagnosed with MMIHS, as microcolon was seen on enema imaging and normal ganglion cells were confirmed by rectal biopsy. At 11 months of age he has been hospitalized for chronic intestinal and urinary dysfunction, and managed with a gastrostomy, a cyststomy, and parenteral nutrition.
MMIHS should also be considered as one of the differential diagnosis of suspected LUTO although it is an extremely rare disease. Since polyhydramnios and gastrointestinal dilatation of MMIHS may appear gradually during late gestation, it is useful to examine the gastrointestinal tract in detail with MRI in addition to ultrasonography.
