title: [Clinical case of the month. MELAS syndrome].
abstract: A patient, born in 1961, was first examined for autoimmune hyperthyroïd at the age of 25. Then, several episodes of serious dehydration and alteration of general condition were followed by a severe encephalopathy with a symptomatology of stroke-like episodes, and during a hospitalization, a volvulus of the colon. Epilepsy developed also. A MELAS syndrome was diagnosed when she was 32 years old, based on her clinical metabolic history of the presence of Ragged-Red-Fibers at muscular biopsy and of the genetical analysis. At the age of 37, after a new episode of encephalopathy, the patient fell into a rapidly evolving coma and deces.
authors.affiliation: Université de Liège, Service de Biochimie.
authors.forename: V
authors.initials: V
authors.lastname: Corman
authors.forename: M
authors.initials: M
authors.lastname: Rorive
authors.forename: G
authors.initials: G
authors.lastname: Hennen
authors.forename: K
authors.initials: K
authors.lastname: Windhausen
mesh_terms: D000328:Adult; D001927:Brain Diseases / Q000209:etiology*; D003108:Colonic Diseases / Q000209:etiology; D003128:Coma / Q000209:etiology; D003681:Dehydration / Q000209:etiology; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007415:Intestinal Obstruction / Q000209:etiology; D017241:MELAS Syndrome / Q000150:complications / Q000175:diagnosis* / Q000473:pathology
vernacular_title: Le cas clinique du mois. Le syndrome MELAS.