Fig. 4

Magnetic Resonance Imaging findings in this study. The first row displays the MRI of patient 4: (A-B) Axial brain MRI shows multiple abnormal T2 fluid-attenuated inversion recovery (FLAIR) hyperintense lesions at the subcortical white matter of the left temporal lobe, frontoparietal, right occipital, frontoparietal, and parietal lobe, and (C) Sagittal T2-weighted (T2W) MRI of the entire spine reveals a confluent long segment of abnormal hypersignal intensity along the cervical and thoracic vertebral levels. Spinal MRI of patient 5 is depicted in (D-E, G), showing multiple short segments of hypersignal intensity lesions on T2W along the lower C2-T7 level with faint enhancing foci at the ventral aspect at upper T3 levels (red and yellow arrows). (F) Coronal orbital MRI of patient 5 also reveals increased signal intensity on T2W (fat saturation) and gadolinium enhancement along both optic nerves from intraconal to prechiasmatic parts (green arrow). (H) The 2-month post-delivery axial brain MRI of patient 7 displays a new hypersignal intensity lesion on T2 FLAIR at the left occipital lobe, with (I) gadolinium enhancement (blue arrow).