title: Mitochondrial neuro-gastrointestinal encephalomyopathy presenting with recurrent bowel perforations and intra-abdominal abscesses.
abstract: BACKGROUND
  Mitochondrial neuro-gastrointestinal encephalomyopathy syndrome (MNGIE syndrome) is a rare genetic disorder that is defined clinically by severe gastrointestinal dysmotility, cachexia, peripheral neuropathy, ptosis and/or ophthalmoparesis, and leukoencephalopathy.
  
  
  METHODS
  We report a case of a 26-year-old man with MNGIE syndrome with a unique clinical picture consisting of recurrent episodes of spontaneous bowel perforation and multiple intra-abdominal abscesses. The patient was admitted to our hospital several times in the past few years and underwent urgent laparotomies due to perforations in the small bowel.
  
  
  CONCLUSIONS
  Case reports regarding bowel perforations in MNGIE syndrome are scarce and mostly relate to a single perforation and attributed to chronic pseudo-obstruction of the small bowel. To the best of our knowledge, there are no case reports regarding recurrent perforations and abscesses. Surgical management of these cases is challenging as there is no curative option for this genetic disorder. Primary care physicians and treating gastroenterologists should be aware of the potential surgical emergencies associated with this disorder.
authors.affiliation: Department of Surgery and Transplantation, Chaim Sheba Medical Center, Tel-Hashomer, Israel, yael.dreznik@gmail.com.
authors.forename: Yael
authors.initials: Y
authors.lastname: Dreznik
authors.forename: Mordechai
authors.initials: M
authors.lastname: Gutman
authors.forename: Batia
authors.initials: B
authors.lastname: Weiss
authors.forename: Avinoam
authors.initials: A
authors.lastname: Nevler
mesh_terms: D000006:Abdomen, Acute / Q000175:diagnosis / Q000209:etiology; D018784:Abdominal Abscess / Q000175:diagnosis* / Q000601:surgery*; D000328:Adult; D003937:Diagnosis, Differential; D004636:Emergency Service, Hospital; D004638:Emergency Treatment; D005767:Gastrointestinal Diseases / Q000175:diagnosis* / Q000628:therapy; D006801:Humans; D007416:Intestinal Perforation / Q000175:diagnosis* / Q000601:surgery*; D007813:Laparotomy / Q000379:methods; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000175:diagnosis* / Q000628:therapy; D035583:Rare Diseases; D012008:Recurrence; D018570:Risk Assessment; D012720:Severity of Illness Index; D013577:Syndrome; D014057:Tomography, X-Ray Computed / Q000379:methods