title: Abdominal pain and vomiting as first sign of mitochondrial disease.
abstract: We describe a patient in whom abdominal pain and vomiting were the presenting symptoms of Mitochondrial Myopathy Encephalopathy, Lactic Acidosis with Stroke-like episodes syndrome (MELAS). Mitochondrial disorders usually present with neurological symptoms or with myopathic features at any age. Although many patients develop visceral symptoms at a certain moment during the course of the disease, only in a minority of patients these symptoms are the unique presenting ones. The proband was initially diagnosed as having gastro-oesophageal reflux and it was only after detailed clinical history that an underlying metabolic defect was suspected and the molecular defect identified.
authors.affiliation: Pediatric Gastroenterology, Ghent University hospital, Ghent, Belgium. stephanie.vanbiervliet@ugent.be
authors.forename: S
authors.initials: S
authors.lastname: Van Biervliet
authors.forename: P
authors.initials: P
authors.lastname: Verloo
authors.forename: S
authors.initials: S
authors.lastname: Vande Veldel
authors.forename: M
authors.initials: M
authors.lastname: Van Winckel
authors.forename: J
authors.initials: J
authors.lastname: Smet
authors.forename: S
authors.initials: S
authors.lastname: Seneca
authors.forename: L
authors.initials: L
authors.lastname: De Meirleir
authors.forename: R
authors.initials: R
authors.lastname: Van Coster
mesh_terms: D015746:Abdominal Pain / Q000150:complications*; D002648:Child; D006801:Humans; D017241:MELAS Syndrome / Q000150:complications / Q000175:diagnosis*; D008297:Male; D014839:Vomiting / Q000150:complications*