Multivisceral transplantation for megacystis microcolon intestinal hypoperistalsis syndrome

Background Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS ) is a rare autosomal recessive disorder causing a functional neonatal bowe l obstruction. Its etiopathogenesis is not fully understood. The prognosis is poor in the majority of cases; most patients die before the age of 6 mon ths. In this report, we describe our experience with three patients with MM IHS in whom multivisceral transplantation was performed. Methods. Three patients with MMIHS underwent multivisceral transplantation. All patients were females with a history of long-term total parenteral nut rition (TPN) with TPN-related cholestatic liver disease. Results. Patient 1 died 17 months after transplantation because of aspirati on after revision of her feeding gastrostomy. At the time of death, the gra ft was functioning and the patient was completely off TPN. Patient 2 is ali ve 17 months after transplant. She is a fully functional, active 2-year-old and has also recently begun oral feeding after intensive rehabilitation. P atient 3 died on day 44 of multisystem failure. Conclusions. This is the first report in the literature of multivisceral tr ansplantation for MMIHS. Although one of the three patients died 44 days af ter surgery from multiorgan system failure, the other two patients had long -term survival after transplant and both grew well on enteral feeding alone . One patient died 17 months from a non-transplant-related complication, wh ile the other is living at home off of TPN, with almost complete dietary re habilitation 17 months after transplant. Our case reports suggest that mult ivisceral transplantation is a valuable therapeutic option for patients aff ected by MMIHS with TPN-induced liver failure.