title: Sigmoid volvulus in a patient with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS): a rare occurrence.
abstract: Mitochondrial diseases are rare and devastating, with a wide spectrum of clinical presentations and systemic symptoms. The majority of the published literature focuses on the neuromuscular manifestations and genetic components of this mitochondrial cytopathy, however, cardiac, renal, endocrine and gastrointestinal manifestations may also be present. The authors report a case detailing a 56-year-old woman's final hospitalisation from the gastrointestinal sequelae of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) (Co Q10 deficiency variant). She presented with abdominal pain and distension associated with lactic acidosis, and was shown on imaging to have a colon perforation. This resulted in emergent surgery at which a necrotic colon secondary to a sigmoid colon was identified. Following four subsequent operations, and the development of multiorgan failure, care was eventually withdrawn. Practitioners of patients with MELAS should be cognisant of the rare but devastating gastrointestinal consequences of mitochondrial diseases.
authors.affiliation: Department of General Surgery, Cleveland Clinic Foundation, Cleveland, Ohio, USA.
authors.forename: Alexander
authors.initials: A
authors.lastname: Hallac
authors.affiliation: Department of General Surgery, Cleveland Clinic Foundation, Cleveland, Ohio, USA.
authors.forename: Hari B
authors.initials: HB
authors.lastname: Keshava
authors.affiliation: Department of Surgery, Cwm Taf NHS Trust, Llantrisant, Rhondda Cynon Taf, UK Department of HPB Surgery, Cleveland Clinic Foundation, Cleveland, Ohio, USA.
authors.forename: Gareth
authors.initials: G
authors.lastname: Morris-Stiff
authors.affiliation: Digestive Disease Institute, Cleveland Clinic Foundation, Cleveland, Ohio, USA.
authors.forename: Samuel
authors.initials: S
authors.lastname: Ibrahim
mesh_terms: D000140:Acidosis, Lactic / Q000150:complications*; D012809:Colon, Sigmoid / Q000473:pathology; D015897:Comorbidity; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D045822:Intestinal Volvulus / Q000175:diagnosis* / Q000209:etiology / Q000601:surgery; D017241:MELAS Syndrome / Q000150:complications*; D008875:Middle Aged; D017237:Mitochondrial Encephalomyopathies / Q000150:complications*