Unusual imaging findings in progressive myoclonus epilepsy.
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.
Marrie
R A
RA
Department of Neurology, McGill University, Montreal, Quebec, Canada.
Shoubridge
E A
EA
Antel
J P
JP
Arnold
D L
DL
Chen
J
J
Andermann
E
E
Andermann
F
F
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
D010758:Phosphorus