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Updated: Oct 2, 2026
Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases
Published on: July 28, 2013
Diffuse magnetic resonance imaging white-matter changes in a 15-year-old boy with mitochondrial encephalomyopathy
Arie Weinstock1, Pierre Giglio, Michael E Cohen
1Department of Neurology, Children's Hospital of Buffalo, State University of New York at Buffalo, 14222, USA.
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.
Insights
This study details a teen with headaches and confusion, diagnosed with mitochondrial myopathy. MRI revealed widespread white matter changes, highlighting unusual presentations of this condition.
Area of Science:
- Neurology
- Genetics
- Biochemistry
Background:
- Mitochondrial myopathies are a group of inherited disorders affecting energy production.
- Typical presentations often involve muscle weakness, but neurological involvement can vary.
Observation:
- A 15-year-old male presented with recurrent headaches, numbness, confusion, and speech difficulties.
- Brain MRI showed diffuse bilateral white-matter hyperintensities in the internal capsule, periventricular and subcortical white matter, pons, and cerebellar peduncles.
- Muscle biopsy indicated mitochondrial myopathy with reduced complex II activity.
Findings:
- The patient's neurological symptoms and MRI findings were atypical for common mitochondrial myopathies.
- Genetic testing for known mutations was negative, suggesting a potential novel genetic cause or non-genetic factor.
- Reduced mitochondrial respiratory chain complex II activity was confirmed biochemically.
Implications:
- Mitochondrial encephalomyopathy should be considered in the differential diagnosis of unexplained white matter abnormalities in adolescents.
- This case expands the spectrum of neuroimaging findings associated with mitochondrial disorders.
- Further research is needed to elucidate the genetic and molecular mechanisms underlying such unusual presentations.
