case_images: PMC10641775_01
case_images: (A-E) Brain MRI reveals a distribution of abnormal signals localized around the ventricles, as well as within the frontal and temporal lobes. In the T1-weighted images, there is a depiction of slightly hypo-intense signals (A), while the T2-weighted images illustrate hyper-intense signals (B). The dark-field images similarly exhibit hyper-intense signals (C). Furthermore, both diffusion-weighted images and apparent diffusion coefficient images do not indicate any restrictions in diffusion (D, E).
case_images: fneur-14-1269237-g0001.jpg
case_images: PMC10641775_01_fneur-14-1269237-g0001.jpg
case_images: F1
case_images: T2 and FLAIR images. There were no obvious abnormal signals on diffusion-weighted images (DWI) and apparent diffusion coefficient maps (Figures 1A-E). The radiological diagnosis was multiple white matter demyelinating lesions.
case_images: Genetic disease gene detection report: c.4044C > G and c.1186-2A > G of POLR3A gene were mutated.
case_images: fneur-14-1269237-g0002.jpg
case_images: PMC10641775_01_fneur-14-1269237-g0002.jpg
case_images: F2
case_images: The detection of hereditary disease genes revealed mutations, namely c.4044C > G and c.1186-2A > G, in POLR3A (Figure 2).