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An autopsy case of mitochondrial encephalomyopathy: biochemical and electron microscopic studies of the brain
M Kishi1, Y Yamamura, T Kurihara
1Fourth Department of Medicine, Toho University, School of Medicine, Tokyo, Japan.
Abstract:
A 29-year-old single woman had recurrent stroke-like episodes. She developed loss of consciousness, myoclonic seizures, and lactic acidosis. She died at the age of 30. A muscle biopsy study revealed mitochondrial myopathy, and the postmortem biochemical analysis demonstrated decreased cytochrome c oxidase activity in the skeletal muscles by 20% of normal control. The brain had multiple ischemic lesions in the cerebral cortex without major vascular occlusions. We present this case as an autopsy case of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) with a partial deficiency of cytochrome c oxidase. The analytical electron microscopic study of the calcified small vessels in the globus pallidus revealed increased calcium, phosphorus and iron. No accumulation of chromium, nickel or zinc was noted in this case, which was different from the previously reported cases of basal ganglia calcification.
Insights
This case study details mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) presenting with partial cytochrome c oxidase deficiency. Autopsy revealed brain lesions and unique basal ganglia calcification patterns in this rare mitochondrial disease.
Area of Science:
- Neurology
- Mitochondrial Medicine
- Pathology
Background:
- Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a rare mitochondrial disorder.
- Characterized by stroke-like episodes, seizures, lactic acidosis, and mitochondrial dysfunction.
Observation:
- A 29-year-old woman experienced recurrent stroke-like episodes, loss of consciousness, myoclonic seizures, and lactic acidosis.
- Muscle biopsy revealed mitochondrial myopathy with a 20% reduction in skeletal muscle cytochrome c oxidase activity.
- Autopsy showed cerebral ischemic lesions and basal ganglia calcification with increased calcium, phosphorus, and iron.
Findings:
- Confirmed MELAS with partial cytochrome c oxidase deficiency.
- Demonstrated unique basal ganglia calcification findings, differing from previously reported cases.
- Highlighted the neuropathological features of MELAS syndrome.
Implications:
- Contributes to understanding the spectrum of MELAS.
- Suggests potential variations in basal ganglia calcification in MELAS.
- Underscores the importance of autopsy in characterizing rare genetic disorders.