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Journal of Child Neurology, Vol. 17, No. 1, 47-49 (2002)
DOI: 10.1177/088307380201700112

Diffuse Magnetic Resonance Imaging White-Matter Changes in a 15-Year-Old Boy With Mitochondrial Encephalomyopathy

Arie Weinstock

Department of Neurology Children's Hospital of Buffalo State University of New York at Buffalo

Pierre Giglio

Department of Neurology Children's Hospital of Buffalo State University of New York at Buffalo

Michael E. Cohen

Department of Neurology Children's Hospital of Buffalo State University of New York at Buffalo

Rohit Bakshi

Department of Neurology and Imaging Services Millard Fillmore and Buffalo General Hospital

John Januario

Department of Radiology Kaleida Health Children's Hospital of Buffalo

Lucy Balos

Department of Pathology Buffalo General Hospital Buffalo, New York

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 T1weighted 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. (J Child Neurol 2002;17:47-49).


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