title: Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS) syndrome: an autopsy report.
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.
authors.affiliation: Department of Anatomic Pathology, Cleveland (Ohio) Clinic Foundation, 44195, USA.
authors.forename: R A
authors.initials: RA
authors.lastname: Prayson
authors.forename: N
authors.initials: N
authors.lastname: Wang
mesh_terms: D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000032:analysis*; D003576:Electron Transport Complex IV / Q000378:metabolism; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007124:Immunoenzyme Techniques; D017241:MELAS Syndrome / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D008928:Mitochondria / Q000235:genetics / Q000648:ultrastructure; D018485:Muscle Fibers, Skeletal / Q000648:ultrastructure; D018482:Muscle, Skeletal / Q000473:pathology; D017354:Point Mutation
chemical_list: D004272:DNA, Mitochondrial; D003576:Electron Transport Complex IV