MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC-ACIDOSIS, AND STROKE-LIKE EPISODES (MELAS) SYNDROME - AN AUTOPSY REPORT

Autopsy reports of patients with mitochondrial encephalopathy with lac tic acidosis and strokelike episode (MELAS) are rare, This report docu ments the clinical and autopsy findings of a 47-year-old woman with ME LAS syndrome. The diagnosis was corroborated by documenting a mitochon drial DNA mutation tRNA-Leu (UUR) at position 3243. The patient's clin ical history was marked by schizophrenia, peptic ulcer disease, consti pation requiring hemicolectomy, migraine headaches, deafness, and a le ft temporal robe infarct. At autopsy, a muscle biopsy demonstrated num erous ragged red fibers and a partial cytochrome C oxidase deficiency. By electron microscopy, increased numbers of slightly hypertrophic mi tochondria were observed focally within myocytes and vessel walls; par acrystalline mitochondrial inclusions were not seen. The brain at auto psy showed mild cerebral atrophy and diffuse cortical gliosis. Promine nt bilateral basal ganglia calcifications and vascular sclerosis were present, and a small remote left temporal lobe infarct was seen.