PMC6123423_01
Sequential changes in MRI.. (a) Brain MRI on admission shows small multifocal gray matter regions in the right temporal, parietal, and occipital lobes, and diffuse white matter lesions in the left temporal lobe, visualized as high-intensity areas in FLAIR images (left). White matter lesions in the left temporal lobe show low intensity in diffusion-weighted images (right). b Extended white matter and left thalamic lesions appeared after a stroke-like episode
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Fig1
Brain magnetic resonance imaging (MRI) demonstrated high-intensity areas of small multifocal gray matter regions in the right temporal, parietal, and occipital lobes, and diffuse white matter lesions in the left temporal lobe on T2 and fluid-attenuated inversion recovery (FLAIR) images (Fig. 1a; left). After admission, he suffered a stroke-like episode that consisted of frequent generalized tonic-clonic seizures, prolonged consciousness disturbance, and left hemiplegia with expansion of the MRI lesions (Fig. 1b). Figure 1).
Direct sequencing of MTTL1 from blood revealed the m.3243A>T mutation.. Sequencing chromatogram of the MTTL1 gene shows the heteroplasmic m.3243A>T mutation in the control sample and in blood, hair, nail, saliva, and fibroblasts from the patient
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Fig2
Figure 2), there are no differences in clinical features between the 3 observed cases with the m.3243A>T mutation and those with the m.3243A>G mutations (Table 1).
PMC6123423_02
Direct sequencing of MTTL1 from blood revealed the m.3243A>T mutation.. Sequencing chromatogram of the MTTL1 gene shows the heteroplasmic m.3243A>T mutation in the control sample and in blood, hair, nail, saliva, and fibroblasts from the patient
41439_2018_26_Fig2_HTML.jpg
PMC6123423_02_41439_2018_26_Fig2_HTML.jpg
Fig2
Figure 2), there are no differences in clinical features between the 3 observed cases with the m.3243A>T mutation and those with the m.3243A>G mutations (Table 1).