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MELAS: Clinical and pathologic correlations with MRI, xenon/CT, and MR spectroscopy
J M Clark1, M P Marks, E Adalsteinsson
1Stanford Stroke Center, Palo Alto, CA 94304-1705, USA.
Neurology
|January 1, 1996
Summary
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) can cause stroke-like brain lesions. Impaired mitochondrial function in blood vessels may underlie these events in MELAS patients.
Area of Science:
- Neurology
- Mitochondrial Diseases
- Neuroimaging
Background:
- Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a rare mitochondrial disorder.
- Characterized by stroke-like episodes, seizures, and developmental delay.
Observation:
- A patient with MELAS presented with recurrent stroke-like episodes.
- Brain MRI revealed migrating T2 hyperintensities and subsequent atrophy.
- Cerebrovascular reserve was abnormal, and MR spectroscopy showed increased lactate.
Findings:
- Histopathology showed spongy degeneration of the cortex.
- Electron microscopy identified abnormal mitochondria in vascular smooth muscle and endothelial cells.
- These findings suggest impaired autoregulation due to mitochondrial dysfunction in cerebral vasculature.
Implications:
- Hypothesizes that impaired mitochondrial metabolic activity in vascular cells contributes to stroke-like episodes in MELAS.
- Highlights the role of vascular pathology in MELAS pathogenesis.
- Suggests potential targets for therapeutic interventions in MELAS.