Surgical treatment of megaduodenum in familial visceral myopathy - report of a case and review of the literature

Abstract

Introduction: Familial visceral myopathy (VM) is a rare genetic disease that affects intestinal motility and results in pseudo-obstruction. Medical treatments can provide supportive measures but no curative treatment.

Case report: A 20-year-old male with known diagnosis of VM was referred to our Unit in May 2013 with recurrent episodes of vomiting and hospital admissions not responding to medical treatment. Pre-operative imaging showed megaduodenum with marked delayed transit and normal small and large bowel transit. He underwent an elective Roux-en-Y duodeno-jejunostomy. The post-operative course was uneventful with complete resolution of the symptoms with a 2 years follow-up.

Discussion: Due to the early age of presentation, VM affects patient both psychologically and physically. Surgical treatment of megaduodenum in visceral myopathy in the absence of motility disorder of the small bowel seems to achieve satisfactory symptomatic relief and could be considered in this rare cohort of patients.

Keywords: Duodeno-jejunostomy; familial visceral myopathy; megaduodenum.