PMC6499163_01
The proband's brain magnetic resonance imaging (MRI) obtained at 18 years old. Axial T1/T2-weighted images [Panels (A) and (B), respectively] and contrast-enhancement T1-weighted image (C) of the brain were obtained when the proband appeared with the first seizures. An apparent large lesion was seen in the right putamen, and a relatively small lesion was seen in the left putamen.
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The brain magnetic resonance imaging (MRI) showed an abnormal signal in the T1/T2-weighted images of the bilateral putamen (Figure 1), and the magnetic resonance angiography was normal.
The proband's brain magnetic resonance imaging (MRI) obtained at 24 years old. Axial T2-weighted images of the brain MRI were obtained at the emergency department [Panels (A) and (B), respectively], 24 days after treatment, the brain MRI was redone [Panels (C) and (D), respectively]. Panels (A,B) showed frontal and parietal lobes cortical lesions and bilateral high-intensity areas in the putamen. Panels (C,D) showed that hyper signals in T2-weighted images of symmetrical putamen did not change significantly; however, the cortical lesions obviously improved.
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T2-weighted images of the symmetrical putamen, bilateral frontal and parietal cortices (Figures 2A,B). Twenty-four days after treatment, the cortical lesions had obviously improved (Figures 2C,D).
Mutation analysis and the family tree. (A) The proband had the heteroplasmic m.10191T>C mutation in blood and hair specimen, her aunt only had the heteroplasmic m.10191T>C mutation in her hair specimen; however, her parents had no detectable mutation. (B) The family tree showed two patients (the proband and her aunt) with the T10191C mutation.
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The family tree is shown in Figure 3B.
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Mutation analysis and the family tree. (A) The proband had the heteroplasmic m.10191T>C mutation in blood and hair specimen, her aunt only had the heteroplasmic m.10191T>C mutation in her hair specimen; however, her parents had no detectable mutation. (B) The family tree showed two patients (the proband and her aunt) with the T10191C mutation.
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The family tree is shown in Figure 3B.