Abstract
A male baby was referred antenatally at 22 weeks of gestation because of a megabladder. Obstructive urethral disease was suspected and ultrasound-guided bladder puncture and/or placement of a vesico-amniotic shunt was repeated. Contrast enema revealed a microcolon while an upper gastrointestinal series demonstrated an atonic distended stomach with little passage of contrast media from the stomach to the duodenum. A rectal suction biopsy demonstrated normal acetylcholinesterase activity and intact ganglion cells. Accordingly, the patient was diagnosed as having megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS). At 42 days of age the infant underwent emergent laparotomy because of abdominal distension with massive intestinal bleeding. We performed jejunostomy for tube-feeding and ileostomy for drainage of intestinal contents. Despite feeding attempts with aggressive prokinetic regimens, the infant continued to show enteral feeding intolerance, and subsequently died of liver failure with massive intestinal bleeding at 7 months of age. Opthalmologic evaluations revealed that the pupils responded poorly to light stimuli. Immunohistochemical staining for alpha smooth muscle actin indicated that it was selectively absent in the circular layer of muscularis propria in the ileum, although the optical microscopic appearance was normal. Based on the ophthalmologic and immunohistochemical findings of the intestine, the present case of MMIHS may be an intestinal myopathy related to acetylcholine receptor abnormality.
