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Central nervous system changes in mitochondrial encephalomyopathy: light and electron microscopic study.
K Mizukami1, M Sasaki, T Suzuki
1Department of Psychiatry, Institute of Clinical Medicine, University of Tsukuba, Japan.
Acta Neuropathologica
|January 1, 1992
Summary
This autopsy study reports a case of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS). Findings revealed widespread brain lesions and a novel "mitochondrial angiopathy" in cerebral blood vessels.
Area of Science:
- Neurology
- Mitochondrial Diseases
- Pathology
Background:
- Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) is a rare genetic disorder.
- This study details an autopsy case presenting with neurological and psychiatric symptoms.
Observation:
- The patient exhibited generalized muscle atrophy, stroke-like episodes, schizophrenia-like mental disorder, and progressive dementia.
- Muscle biopsy revealed ragged-red fibers and abnormal mitochondria with paracrystalline inclusions.
- Autopsy showed widespread infarct-like lesions in the cerebral cortex.
Findings:
- Key neuropathological findings included diffuse gliosis, demyelination with spheroids in pontocerebellar fibers, and degeneration of posterior columns and spinocerebellar tracts.
- Electron microscopy identified abnormal mitochondria aggregated in the smooth muscle cells and endothelium of cerebral and cerebellar blood vessels.
- These observations suggest a previously unrecognized "mitochondrial angiopathy" associated with MELAS.
Implications:
- This case expands the understanding of MELAS pathology beyond typical presentations.
- The identification of mitochondrial angiopathy highlights potential vascular contributions to MELAS pathogenesis.
- Further research into mitochondrial angiopathy may reveal new therapeutic targets for MELAS and related mitochondrial disorders.