1604 Multidisciplinary Approach for Prolonged Survival of Patients With MMIHS

Abstract

INTRODUCTION: Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS)/Berdon syndrome is a rare disorder characterized by a distended non-obstructed bladder, microcolon, and decreased intestinal peristalsis with average life expectancy less than 6 months. We present case of a patient with MMIHS. CASE DESCRIPTION/METHODS: A 23-year-old female with MMIHS presented to the emergency department for abdominal pain and inability to tolerate oral or feeds through gastrostomy tube for 3 weeks. She had extensive surgical history since birth with LADD’s procedure due to intestine malrotation, exploratory laparotomy and subtotal colectomy for volvulous, colectomy with end ileostomy, Bilroth I, gastrostomy tube, and multiple nephrostomy tube for recurrent urinary infection. Patient had similar recurrent symptoms thought to be due to small intestinal bacterial overgrown and recurrent urinary tract infection. It appeared with each hospitalization her ability to tolerate oral intake declined to a lower baseline. At home patient was on Cisapride 14ml four times daily. During hospitalization lab work and imaging was non-contributory other than urine culture positive for Klebsiella. A small bowel follow through showed delayed gastric empting. Due to inability to tolerate oral intake or feeds patient was started on total parenteral nutrition (TPN). Esophagogastroduodenoscopy showed esophagitis, moderate chronic active gastritis with widely patent gastrojejunostomy anastomosis and jejunal limb. Her symptoms were likely due to progression of hypomotility syndrome. Cisapride was increased by 14%, under direction of outpatient pediatric gastroenterologist, with good response. However, due to prolonged QTc on electrocardiogram, upon discharge she was changed to Lubipristone. DISCUSSION: Our case demonstrates a complex presentation of a rare but fatal intestinal myopathy with most patients not surviving past infancy with even fewer cases surviving long term. Complications such as perforation, sepsis, malnutrition, multi-organ failure and pseudo-obstruction is not well understood in these patients and needs to be ruled out at each hospitalization. A multidisciplinary approach is needed for long term survival of patients with MMIHS. Main goals of treatment include providing a bladder-emptying strategy and adequate nutrition. In our case study, we demonstrate off label use of Cisapride and Lubiprostone for dysmotility. Close long term follow-up is necessary with multidisciplinary approach for long term survival.