Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) of children and young adults is defined by retinitis pigmentosa, recurrent attacks of focal neurologic deficits, seizures, migrainous headaches, progressive external ophthalmoplegia, intellectual deterioration, and myopathy. The disease is maternally inherited and is associated with point mutations in transfer RNA (tRNA) genes.
The pathology is characterized by solitary or multiple necrotic lesions in the cerebral cortex and white matter, mainly in the parieto-occipital lobes. Histologi-cally, they resemble ischemic necrosis, although do not conform to arterial territories. Mineral deposits are seen in the basal ganglia, and ragged-red fiber myopathy is present.
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