A Case of MMIHS Suspected Prenatally in a Boy

Abstract

A fetal ultrasound scan revealed megacystis and bilateral hydronephrosis at 22 weeks of gestation, polyhydramnion at 24 weeks of gestation, and intestinal dilatation at 28 weeks of gestation. These findings were indicative of megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS). After birth, a gastrointestinal series showed malrotation and microcolon. The patient presented with vomiting, urination disorder and constipation shortly after birth, but these symptoms gradually improved, so he was able to leave the hospital 6 months after birth. Left pyeloplasty was performed because of the worsening of hydronephrosis 9 months after birth. Gastrostomy was also performed for the decompression of the stomach at the age of 2. His symptoms of intestinal obstruction were not so severe; thus he was able to eat an ordinary diet before the age of 6. A histopathology assessment of the full thickness of the rectum at the age of 6 confirmed normal ganglion cells. He was eventually diagnosed as having MMIHS. Parenteral nutrition was required at the age of 6 years and 10 months because of the progressive worsening of his intestinal obstruction. He has always been improved by conservative therapy, although he has been hospitalized repeatedly because of the worsening of the ileus. We need to consider MMIHS if polyhydramnion with suspected obstruction of the urinary tract is revealed by a fetal ultrasound scan.