Megacystis Microcolon Intestinal Hypoperistalsis Syndrome: Longest Survivor of This Rare Entity

Abstract

Purpose: Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a very rare congenital malformation characterized by functional intestinal obstruction with microcolon, decreased intestinal peristalsis and non-obstructed distended urinary bladder. Since 1976 around 182 cases have been reported, with two-thirds being females. MMIHS generally presents in neonatal period with abdominal distention and bilious vomiting. Patients need major surgery, generally a urinary diversion with an ileostomy. Most patients need lifelong parenteral nutrition. MMIHS generally has a fatal outcome in the neonatal period with sepsis being the most common cause of death. At the time of the last major review article on this condition in 2005 only 23 out of the 182 reported cases were alive with the oldest one being 18 years old. We report a case of 25-year old African American female with MMIHS, who had abdominal distention and bilious emesis at birth. Initial abdominal x-ray revealed abnormal gas pattern, lack of stool and air in the bladder. An upper GI series was then done that showed extravasation of contrast into the peritoneal cavity. An exploratory laparotomy was performed with findings notable for congenital absence of muscle of greater curvature of stomach, microcolon with hypoperistalsis with floppy, thick walled and trabeculated bladder. Thus a diagnosis of MMIHS was made. At one month of age, the patient underwent an elective vesico-ileostomy. She was initially maintained on total parenteral nutrition (TPN) till age 2 and then transitioned to enteral nutrition through a gastrostomy tube with careful outpatient clinic follow up with Gastroenterology and Urology clinics. She had intermittently required TPN for optimal nutrition support. She presented to the nutrition clinic recently with a 3 months history of nausea and vomiting with mild abdominal distention. Physical examination showed normal vital signs, mild abdominal distention with no tenderness or rebound and hypoactive bowel sounds. An upper GI series with small bowel follow through and a CT abdomen-pelvis showed interval worsening of her chronic small bowel dilation. Hence the patient was placed on TPN and is currently doing well with minimal GI symptoms. To our knowledge she is the oldest living patient with MMIHS. Early recognition, appropriate surgical and nutritional interventions, and careful follow-up could make a big difference in the care of patients with this rare and near fatal disorder.