PMC5313432_01
(A, C) Axial and coronal FLAIR brain MRI images showing cortical and subcortical high-intensity lesions distributed bilaterally and almost symmetrically. (B) Some of the cortical and subcortical lesions gave a high signal on diffusion-weighted imaging. (D) A large lactate doublet (arrow) was identified on MRS centered in the lesion. (E) 99mTc-Ethylcysteinate dimer SPECT imaging revealed a bilateral multifocal increase in the perfusion of the cortical lesions. (F) A histopathological study of the biopsied muscle showed no myopathic changes or ragged red fibers on Hematoxylin and Eosin staining and Gomori trichrome staining. (G) Sequence chromatogram of mitochondrial DNA extracted from the biopsied muscle. A heteroplasmic substitution (m.10158T>C) was found in the MT-ND3 gene (arrow).
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Bilateral red nuclei, mesencephalic tectum, vermis and cerebellar flocculus were also involved (Fig. 1A and C). Some of the cortical and subcortical lesions gave a high signal on diffusion-weighted imaging (DWI) (Fig. 1B). Two weeks later, the high signal on DWI had diminished, and four weeks later, the high signal on T2WI and FLAIR had diminished (Fig. 2). 1H-MRS revealed elevated lactate concentrations in the lesions (Fig. 1D). 99mTc-Ethylcysteinate dimer single photon emission computed tomography (SPECT) imaging revealed bilateral multifocal increase of perfusion in the MRI lesions (Fig. 1E). Cytochrome c oxidase staining revealed no abnormalities (Fig. 1F). However, the complete sequencing of mitochondrial DNA samples extracted from the biopsied muscle revealed a heteroplasmic m.10158T>C mutation, with a level of mutant heteroplasmy of 69.5%, in the mitochondrial complex I subunit gene, MT-ND3 (Fig. 1G).
Brain MRI of DWI (upper), ADC map (middle), and FLAIR (bottom) images are shown. The high-intensity lesions diminished after 2 weeks on DWI. Four weeks later, some lesions still remained on FLAIR images.
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Two weeks later, the high signal on DWI had diminished, and four weeks later, the high signal on T2WI and FLAIR had diminished (Fig. 2). 1H-MRS revealed elevated lactate concentrations in the lesions (Fig. 1D). 99mTc-Ethylcysteinate dimer single photon emission computed tomography (SPECT) imaging revealed bilateral multifocal increase of perfusion in the MRI lesions (Fig. 1E).