title: Diffuse magnetic resonance imaging white-matter changes in a 15-year-old boy with mitochondrial encephalomyopathy.
abstract: We report a 15-year-old boy who presented with recurrent headaches associated with numbness, confusion, and speech difficulty. Brain magnetic resonance imaging (MRI) revealed diffuse bilateral white-matter hyperintensity on fluid-attenuated inversion-recovery and T2-weighted images in the internal capsule, periventricular and subcortical white matter, base of the pons, and middle cerebellar peduncles. Lesions were isointense on T1-weighted images and nonenhancing. Muscle biopsy showed changes consistent with a mitochondrial myopathy. Mitochondrial respiratory chain enzyme activity analysis revealed a significant reduction in complex II activity. Genetic testing was negative. We conclude that mitochondrial encephalomyopathy may present with unusual diffuse supratentorial and infratentorial white-matter changes on MRI.
authors.affiliation: Department of Neurology, Children's Hospital of Buffalo, State University of New York at Buffalo, 14222, USA.
authors.forename: Arie
authors.initials: A
authors.lastname: Weinstock
authors.forename: Pierre
authors.initials: P
authors.lastname: Giglio
authors.forename: Michael E
authors.initials: ME
authors.lastname: Cohen
authors.forename: Rohit
authors.initials: R
authors.lastname: Bakshi
authors.forename: John
authors.initials: J
authors.lastname: Januario
authors.forename: Lucy
authors.initials: L
authors.lastname: Balos
mesh_terms: D000293:Adolescent; D001921:Brain / Q000378:metabolism; D003937:Diagnosis, Differential; D042963:Electron Transport Complex II; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008854:Microscopy, Electron; D008931:Mitochondria, Muscle / Q000000981:diagnostic imaging; D017237:Mitochondrial Encephalomyopathies / Q000175:diagnosis*; D009097:Multienzyme Complexes / Q000378:metabolism; D010088:Oxidoreductases / Q000378:metabolism; D013385:Succinate Dehydrogenase / Q000378:metabolism; D014463:Ultrasonography
chemical_list: D009097:Multienzyme Complexes; D010088:Oxidoreductases; D042963:Electron Transport Complex II; D013385:Succinate Dehydrogenase