Table 3.
Clinical and vascular characteristics of patients with ring finger protein 213 variant-related intracranial major artery stenosis/occlusion
Patient | Gender | Age (year) | Family history of MMD | Vascular risk factors | Clinical symptoms | Manifestation in MRI/CT | Vascular abnormality in CTA/MRA/DSA |
---|---|---|---|---|---|---|---|
1 | Male | 52 | No | Hypertension Smoking Drinking | Dizziness, numbness of the left limbs | Lacunar infarction in the right basal ganglia and corona radiata | Severe stenosis in intracranial vessel of right ICA |
2 | Male | 54 | No | Hypertension Smoking Drinking | No symptoms | Infarction in the bilateral centrum semiovale | Moderate stenosis in M1 segment of left MCA |
3 | Female | 45 | No | Hypertension | Dizziness | Normal | Occlusion of the left MCA |
4 | Female | 58 | No | Hypertension Dyslipidemia | No symptoms | Spotty cerebral ischemic lesions in both lateral ventricles | Severe stenosis of the right MCA with multiple irregular blood vessels in the corresponding level |
5 | Male | 41 | No | Smoking Drinking | Weakness of the left limbs | Infarction in the left basal ganglia and left temporal lobe, parietal lobe and insula | Occlusion of the left MCA |
6 | Female | 42 | No | Dyslipidemia | Episodic left upper limb numbness and weakness | Spotty cerebral ischemic lesions in right centrum ovale | Occlusion of the right MCA |
7 | Female | 51 | No | Dyslipidemia | Dizziness | Normal | Severe stenosis of the right MCA |
8 | Female | 54 | No | Hypertension | Episodic weakness in the right limbs | Normal | Severe stenosis in M1 segment of left MCA |
ICA: Internal carotid artery, MCA: Middle cerebral artery, CTA: Computed tomography angiography, MRA: Magnetic resonance angiography, DSA: Digital subtraction angiography, MMD: Moyamoya disease, MRI: Magnetic resonance imaging, CT: Computed tomography