PMC9327320_01
Chronological changes of CCAD lesions. MRI (DWI) on arrival revealed (A) hyperintense lesions in the left frontal lobe, the left temporal lobe, and the left corona radiata in DWI sequence. MRA revealed (B) M2 segment occlusion of the left MCA (arrowhead), occlusion of the left ICA (bracket), and severe stenosis of the right ICA (arrow) in coronal view, and (C) luminal irregularity of the V3 segment of the right VA (arrowhead) in basal view. Angiography conducted at ED revealed (D) the left ICA occlusion (arrowhead), (E) occlusion of the M2 segment of the left MCA (arrowhead), (F) recanalized left MCA after thrombectomy (arrowhead), and (G) stented left ICA after angioplasty (arrowhead). MRA performed 24 h after hospitalization revealed (H) an intimal flap in the right ICA (arrowhead), the stented left ICA (arrow), and (I) intimal flap in the right VA (arrowhead). CTA performed 15 days after hospitalization revealed (J) luminal irregularity of the V3 segment of the left VA (arrowhead).
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F1
On diffusion-weighted imaging, magnetic resonance imaging (MRI) revealed hyperintense lesions in the left frontal and temporal lobes and left corona radiata, but fluid-attenuated inversion recovery sequences showed no parenchymal hyperintensity; the Diffusion-Weighted Imaging-Alberta Stroke Program Early Computed Tomography Score was 7 (Figure 1A). Magnetic resonance angiography (MRA) and endovascular angiography revealed occlusion of the M2 segment of the left middle cerebral artery (MCA), occlusion of the left internal carotid artery (ICA), severe stenosis of the right ICA, and luminal irregularity of the right vertebral artery (VA; Figures 1B-E,H,I). Administration of rt-PA was started 105 min after symptom onset, and mechanical thrombectomy via the occluded left ICA restored the left MCA perfusion to grade 3 of the Thrombolysis in Cerebral Infarction scale 185 min after symptom onset (Figure 1F). Angioplasty and stenting were performed on the left ICA to avoid re-occlusion (Figure 1G), while we conservatively observed the severe stenosis of the distal portion of the right ICA. Despite the normal appearance of the left VA on the initial investigation and CT angiography (CTA) performed 8 days after patient hospitalization, dissection of the V3 segment of the left VA with stenosis was identified by CTA 15 days after hospitalization (Figure 1J).
Pedigree of the patient. Individuals affected with arterial lesions are colored in black. Circle 1 indicated by an arrow is our patient. Circle 2 indicates the maternal aunt of our patient who developed abnormalities in the distal aorta and carotid artery with the diagnosis of suspected FMD, whose genetic screening also identified heterozygous COL5A1 c.4943A>G mutation. Square 3 indicates the maternal male cousin of our patient who developed carotid artery dissection and was scheduled for gene screening.
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F2
Following the hospitalization of the patient, her two genetically related relatives developed arterial disorders (Figure 2).