Diffuse magnetic resonance imaging white-matter changes in a 15-year-old boy with mitochondrial encephalomyopathy.
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.
Weinstock
Arie
A
Department of Neurology, Children's Hospital of Buffalo, State University of New York at Buffalo, 14222, USA.
Giglio
Pierre
P
Cohen
Michael E
ME
Bakshi
Rohit
R
Januario
John
J
Balos
Lucy
L
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
D009097:Multienzyme Complexes; D010088:Oxidoreductases; D042963:Electron Transport Complex II; D013385:Succinate Dehydrogenase