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Figure Case presentation

Published byHadi Sudjarwadi Modified over 6 years ago

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Presentation on theme: "Figure Case presentation"— Presentation transcript:

1 Figure Case presentation
Case presentation (A) Clinical presentation: 65-year-old patient with a confirmed mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes mutation (m.3243A>G) presented with a multiple system atrophy phenotype with hypomimia, camptocormia, and inner rotation of the left hand as a correlate of a left- > right-sided extrapyramidal syndrome as well as a cerebellar and pyramidal syndrome. (B–D) Histology: (B) hematoxylin and eosin: ragged red fibers and myophagia (*); (C) cyclooxygenase/succinic dehydrogenase (COX/SDH) double enzymatic staining; COX-deficient, SDH hyperreactive fibers; and (D) Oil Red O: neutral fat accumulation (scale bar 50 μm). Both, changes in COX/SDH as well as lipid accumulation suggest mitochondrial dysfunction. (E–G) MRI of the brain and the cervical spine: T2 fluid-attenuated inversion recovery images show bilateral signal changes in the basal ganglia, thalami (E), and dentate nuclei (F) (arrow) in the areas of calcifications, furthermore white matter changes in the periventricular zone (E) as well as cerebellar atrophy (F and G). (H) Fluorodeoxyglucose PET: transversal PET-CT shows diminished metabolism of the cerebellum as well as calcifications of the dentate nuclei (arrow). Anne-Katrin Pröbstel et al. Neurol Genet 2016;2:e121 © 2016 American Academy of Neurology

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