title: Unusual imaging findings in progressive myoclonus epilepsy.
abstract: 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.
authors.affiliation: Department of Neurology, McGill University, Montreal, Quebec, Canada.
authors.forename: R A
authors.initials: RA
authors.lastname: Marrie
authors.forename: E A
authors.initials: EA
authors.lastname: Shoubridge
authors.forename: J P
authors.initials: JP
authors.lastname: Antel
authors.forename: D L
authors.initials: DL
authors.lastname: Arnold
authors.forename: J
authors.initials: J
authors.lastname: Chen
authors.forename: E
authors.initials: E
authors.lastname: Andermann
authors.forename: F
authors.initials: F
authors.lastname: Andermann
mesh_terms: D000328:Adult; D002540:Cerebral Cortex / Q000378:metabolism / Q000473:pathology; D003337:Corpus Callosum / Q000378:metabolism / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000706:statistics & numerical data*; D009682:Magnetic Resonance Spectroscopy / Q000706:statistics & numerical data*; D008297:Male; D017240:Mitochondrial Myopathies / Q000175:diagnosis* / Q000473:pathology / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000378:metabolism / Q000503:physiopathology; D020191:Myoclonic Epilepsies, Progressive / Q000175:diagnosis* / Q000503:physiopathology; D010758:Phosphorus
chemical_list: D010758:Phosphorus