case_images: PMC10564987_01
case_images: The magnetic resonance imaging (MRI) images of the patient. T2-weighted image shows multifocal lacunes in the pons (A, white arrow) and periventricular white matter (B, white arrows) and leukoencephalopathy (B, black arrows). Diffusion weighted imaging (DWI) shows acute infarcts in the pons (C, white arrow) and left corona radiata (D, white arrow). Multifocal microbleeds and hemosiderin deposits were found in the pons (E, white arrow), bilateral thalamus and basal ganglia (F, white arrows) on susceptibility weighted imaging (SWI).
case_images: fneur-14-1237847-g001.jpg
case_images: PMC10564987_01_fneur-14-1237847-g001.jpg
case_images: fig1
case_images: WM, multifocal microbleeds in the pons, bilateral thalamus and basal ganglia, and leukoencephalopathy (Figure 1). Magnetic resonance angiography (MRA) found no significant abnormalities in the cerebral arteries. Whole exome sequencing was performed using Illumina HiSeq platform and a heterozygous missense mutation in exon 40 of COL4A1 (chr13:110826321, c.3431C>G, p.
case_images: Sanger sequencing of the COL4A1 gene of the patient and his parents. The patient (A) and his mother (C) had the same heterozygous mutation (c.3431C>G). The genotype of the patient's father was wild type (B).
case_images: fneur-14-1237847-g002.jpg
case_images: PMC10564987_01_fneur-14-1237847-g002.jpg
case_images: fig2
case_images: The heterozygous mutation c.3431C>G in the exon 40 of COL4A1 was identified in the patient's mother (Figure 2). To our knowledge, the variant has not been reported in patients with cSVD and has been interpreted as uncertain or benign in the ClinVar database.1 Although the patient's mother carried this variant, she had no history of cerebrovascular disease, and she declined further MRI scans of the brain.