Diagnosis and treatment in a case of juvenile subacute necrotizing encephalopathy Leigh without cytochrome c oxidase deficiency.
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.
Westarp
M E
ME
Department of Neurology, University of Ulm, Germany.
Holzgraefe
M
M
Gallenkamp
U
U
Thomas
R
R
Bechinger
D
D
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
D003576:Electron Transport Complex IV; D005444:Flunarizine