Mitochondrial encephalomyopathy: fluctuating symptoms and CT.
We describe a 29-year-old man with mitochondrial encephalomyopathy. The patient's disorder was characterized by lactic acidosis, hemiparesis, seizures, aphasia, and hemianopia. CT revealed low-density areas that corresponded to the symptoms. His 56-year-old mother is also involved subclinically, demonstrating that muscle biopsy is an important requisite in the final determination of a familial inheritance pattern in mitochondrial myopathy. Neuronal mitochondrial disorders are suggested as the pathogenesis of his neurologic symptoms.
D000328:Adult; D001927:Brain Diseases / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D006801:Humans; D008297:Male; D008931:Mitochondria, Muscle / Q000648:ultrastructure*; D009468:Neuromuscular Diseases / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D010085:Oxidative Phosphorylation; D014057:Tomography, X-Ray Computed