flunarizine and Leigh-Disease

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.

Topics: Biopsy; Cytochrome-c Oxidase Deficiency; Electron Transport Complex IV; Female; Flunarizine; Humans; Leigh Disease; Magnetic Resonance Imaging; Motor Cortex; Muscles; Neurologic Examination; Neurons; Neuropsychological Tests; Tomography, X-Ray Computed