title: Diagnosis and treatment in a case of juvenile subacute necrotizing encephalopathy Leigh without cytochrome c oxidase deficiency.
abstract: Subacute necrotizing encephalopathy (Leigh syndrome) is characterized by lactacidosis, seizures, ataxia, multiple cerebral hypervascularized lesions and mitochondrial oxidation defects. This is a report on a 21-year-old patient with proven Leigh syndrome, mild central and provokable peripheral lactacidosis, an extra-erythrocyte complex II defect, functionally reduced myokinase adenylate deaminase activity, but no ultrastructural mitochondrial changes. Determination of lactate, pyruvate and ammonia under ischemic conditions plus a pyruvate loading test were particularly useful. Oral flunarizine (Sibelium 30 mg/d) proved to be therapeutically effective.
authors.affiliation: Department of Neurology, University of Ulm, Germany.
authors.forename: M E
authors.initials: ME
authors.lastname: Westarp
authors.forename: M
authors.initials: M
authors.lastname: Holzgraefe
authors.forename: U
authors.initials: U
authors.lastname: Gallenkamp
authors.forename: R
authors.initials: R
authors.lastname: Thomas
authors.forename: D
authors.initials: D
authors.lastname: Bechinger
mesh_terms: D001706:Biopsy; D030401:Cytochrome-c Oxidase Deficiency; D003576:Electron Transport Complex IV / Q000502:physiology; D005260:Female; D005444:Flunarizine / Q000627:therapeutic use; D006801:Humans; D007888:Leigh Disease / Q000175:diagnosis* / Q000188:drug therapy / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D009044:Motor Cortex / Q000473:pathology; D009132:Muscles / Q000473:pathology; D009460:Neurologic Examination / Q000187:drug effects; D009474:Neurons / Q000473:pathology; D009483:Neuropsychological Tests; D014057:Tomography, X-Ray Computed
chemical_list: D003576:Electron Transport Complex IV; D005444:Flunarizine