case_images: PMC11221192_01
case_images: The family tree (A) reveals that the proband (black arrow) and his younger brother have CADASIL, while we are uncertain whether the proband's father had CADASIL; the T2 fluid attenuated inversion recovery sequence (B) of the head magnetic resonance imaging in February shows demyelinating lesions in the white matter of bilateral temporal pole (white arrow); while genetic testing (C) shows a heterozygous c.328C > T (p.R110C) missense mutation in exon 3 of the NOTCH3 gene; the magnetic resonance angiography sequence (D) indicates local stenosis of the left of the second middle cerebral artery (MCA) segment and the right of the first MCA segment (white arrow).
case_images: fneur-15-1400537-g001.jpg
case_images: PMC11221192_01_fneur-15-1400537-g001.jpg
case_images: fig1
case_images: AIS in October 2019; head MRI using a diffusion-weighted imaging (DWI) sequence revealed a cerebral infarction in the left basal ganglia-corona radiate area (Supplementary Figure S1). Additionally, demyelinating lesions were evident in the white matter, temporal pole, external capsule, central oval, and radiocoronal regions around the bilateral lateral ventricles on a T2 fluid attenuated inversion recovery (FLAIR) sequence (Figure 1A; Supplementary Figure S2). Further evaluation of complete brain T2 FLAIR sequences unveiled multiple demyelinating lesions in the white matter of the bilateral lateral ventricles, central half oval, coronal radiation, bilateral external sacs and bilateral temporal pole (Figure 1B). Magnetic resonance angiography and transcranial Doppler (TCD) suggested localized stenosis in the left of the second middle cerebral artery (MCA) segment (M2) and the right of the first MCA segment (Figure 1D). Subsequently, genetic testing was conducted in consultation with the proband, revealing a heterozygous c.328C > T (p.R110C) missense mutation in exon 3 of the NOTCH3 gene (Figure 1C).
case_images: The emergency computer tomography perfusion (A) of the proband reveals that the cerebral blood flow and volume in the low-density area of the left temporo-parieto-occipital insular lobe were lower than those on the contralateral side. Additionally, the mean transit time, time to peak, and Tmax were longer than those on the contralateral side; the volume of the core infarct area was 48.6 mL, and the mismatch volume was 41.8 mL. The volume of the perfusion area was 90.4 mL, resulting in a mismatch ratio of 1.9; cerebral angiography conducted before recanalization (B) depicts severe stenosis (80%) in the long segment of the initial portion of the inferior trunk of the left middle cerebral artery. Follow-up angiography conducted after endovascular treatment (C) demonstrates significant improvement in the stenosis; the diffusion-weighted imaging sequence (D) of the head magnetic resonance imaging after angioplasty in June shows cerebral infarction in multiple locations; the T2 fluid attenuated inversion recovery sequence (E) shows multiple demyelinating changes in the white matter of the brain; while the T2 star-weighted angiography sequence (F) indicates schistose hemorrhagic lesions in the parietal and occipital lobes.
case_images: fneur-15-1400537-g002.jpg
case_images: PMC11221192_01_fneur-15-1400537-g002.jpg
case_images: fig2
case_images: AIS in October 2019; head MRI using a diffusion-weighted imaging (DWI) sequence revealed a cerebral infarction in the left basal ganglia-corona radiate area (Supplementary Figure S1). Additionally, demyelinating lesions were evident in the white matter, temporal pole, external capsule, central oval, and radiocoronal regions around the bilateral lateral ventricles on a T2 fluid attenuated inversion recovery (FLAIR) sequence (Figure 1A; Supplementary Figure S2). Besides, the computer tomography perfusion (CTP) showed that the volume of the core infarct area was 48.6 mL, the volume of the hypoperfusion area was 90.4 mL, and the mismatch ratio was 1.9 (Figure 2A). Cerebral angiography revealed a significant stenosis in the initial segment of the left MCA, measuring at 80%, with a blood flow graded at 2a (Figure 2B). The residual stenosis was reduced to less than 20%, accompanied by a notable advancement in blood flow, graded at 3 (Figure 2C). On the third day post-surgery, a comprehensive head magnetic resonance (MR) examination was conducted, and the DWI sequence unveiled the presence of multiple cerebral infarctions in the left frontotemporal parietal occipital lobe, basal ganglia, and right cerebellum (Figure 2D). Furthermore, the T2 FLAIR sequence showed more significant demyelinating changes in various regions compared to February (Figure 2E). Additionally, the T2 star-weighted angiography (SWAN) sequence indicated schistose hemorrhagic lesions in the parietal and occipital lobes (Figure 2F) and scattered microbleeds situated in the left frontal temporal parietal occipital lobe (Supplementary Figure S6).
case_images: The proband's head computed tomography re-examination in July (A) shows that the density of the left occipital and temporal lobes was lower than before, suggesting the formation of softening lesions; the T2 fluid attenuated inversion recovery sequence (B) in October shows multiple demyelinating changes in the white matter of the brain, while the magnetic resonance angiography sequence (C) depicts focal stenosis of the second segment of the left middle cerebral artery (MCA) and the first segment of the right MCA (white arrow).
case_images: fneur-15-1400537-g003.jpg
case_images: PMC11221192_01_fneur-15-1400537-g003.jpg
case_images: fig3
case_images: Figure S3), the Alberta Stroke Program Early CT Score (ASPECTS) was 8. Further evaluation via computer tomography angiography disclosed occlusion of the distal lumen in the left of the M2 (Supplementary Figure S4). So far, the proband has had head CT (Figure 3A) and head MR re-examinations (Figures 3B,C) in July and October, respectively.