PMC3662574_01
CT imaging of the patient. (a, b) Reconstructed CT angiography revealed nearly total occlusion of left proximal middle cerebral artery (marked by the arrows). (c, d) CT perfusion study showed prolonged mean transit time (the blue area indicates the area of prolonged transit time) in most of the left cerebral hemisphere, which indicated reduced perfusion. (e, f) Follow-up non-contrast CT one day after the stroke showed a hypodensity in the left basal ganglia and peri-sylvian area, suggestive of a recent infarct. The size was much smaller than the previous perfusion defect.
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F1
CT angiography right after thrombolytic therapy revealed nearly total occlusion of the left distal internal carotid artery and proximal middle cerebral artery (MCA) (Figure 1a and b), and CT perfusion image revealed reduced cerebral perfusion in the left hemisphere (Figure 1c and d). Follow-up head CT on the next day showed a hypodensity lesion mainly in the left MCA territory (Figure 1e and 1f), and the size was much smaller than the previous perfusion defect.
The results of genetic sequencing of the LMNA gene. In this electropherogram, the green line represents adenine (A), the blue line represents cytosine (C), the black line represents guanine (G), and the red line represents thymine (T). Compared with the wild type (WT, the lower part), our patient carries a heterozygous mutation of "G" to "A" transition at intron 2 (c.513+1 G>A, the upper part).
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F2
The confirmatory sequencing demonstrated a heterozygous mutation of "G" to "A" transition at the splicing donor site at intron 2 (c.513+1 G>A / wild type, Figure 2).