Unusual Imaging Findings in Progressive Myoclonus Epilepsy
Address correspondence and reprint requests to Dr. F. Andermann at The Montreal Neurological Hospital, 3801 University Street, Room 127, Montreal, Quebec H3A 2B4, Canada.
Abstract
Summary: We describe a patient with progressive myoclonus epilepsy (PME), white matter hyperintensities in the corpus callosum, cerebral hemispheres, and left cerebral peduncle on magnetic resonance imaging (MRI), and positive oligoclonal bands. A phosphorus magnetic resonance spectrum was compatible with mitochondrial dysfunction. Abnormal white matter signals are not a feature of the known PME syndromes, although they occur in Leber's hereditary optic neuropathy (LHON). These abnormalities oriented the diagnosis toward mitochondrial disease.
