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Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS) syndrome: an autopsy report
1Department of Anatomic Pathology, Cleveland (Ohio) Clinic Foundation, 44195, USA.
Abstract:
Autopsy reports of patients with mitochondrial encephalopathy with lactic acidosis and strokelike episode (MELAS) are rare. This report documents the clinical and autopsy findings of a 47-year-old woman with MELAS syndrome. The diagnosis was corroborated by documenting a mitochondrial DNA mutation tRNA-Leu (UUR) at position 3243. The patient's clinical history was marked by schizophrenia, peptic ulcer disease, constipation requiring hemicolectomy, migraine headaches, deafness, and a left temporal lobe infarct. At autopsy, a muscle biopsy demonstrated numerous ragged red fibers and a partial cytochrome C oxidase deficiency. By electron microscopy, increased numbers of slightly hypertrophic mitochondria were observed focally within myocytes and vessel walls; paracrystalline mitochondrial inclusions were not seen. The brain at autopsy showed mild cerebral atrophy and diffuse cortical gliosis. Prominent bilateral basal ganglia calcifications and vascular sclerosis were present, and a small remote left temporal lobe infarct was seen.
Insights
This autopsy report details a rare case of MELAS syndrome in a 47-year-old woman, confirming a mitochondrial DNA mutation. Findings include ragged red fibers and basal ganglia calcifications, offering insights into this complex neurological disorder.
Area of Science:
- Neurology
- Genetics
- Pathology
Background:
- Mitochondrial encephalopathy with lactic acidosis and strokelike episode (MELAS) is a rare mitochondrial disorder.
- Autopsy reports providing detailed pathological findings in MELAS patients are infrequent.
Observation:
- A 47-year-old woman with a history of schizophrenia, peptic ulcer disease, and migraines presented with MELAS syndrome.
- Diagnosis was confirmed by identifying the mitochondrial DNA mutation tRNA-Leu (UUR) at position 3243.
- Clinical history included deafness and a left temporal lobe infarct.
Findings:
- Autopsy revealed numerous ragged red fibers in muscle biopsy, indicating mitochondrial myopathy.
- Partial cytochrome c oxidase deficiency was noted.
- Electron microscopy showed hypertrophic mitochondria in myocytes and vessel walls, without paracrystalline inclusions.
- Cerebral atrophy, cortical gliosis, bilateral basal ganglia calcifications, and vascular sclerosis were observed in the brain.
- A remote left temporal lobe infarct was documented.
Implications:
- This case highlights the diverse clinical manifestations of MELAS syndrome.
- Autopsy findings correlate with the genetic mutation and clinical presentation.
- Provides valuable pathological data for understanding MELAS pathophysiology and neurological complications.