Figure 2. Longitudinal MRI changes of patients with hereditary diffuse leukoencephalopathy with spheroids.

(A) Sequential MRI studies of patient VI using fluid-attenuated inversion recovery (FLAIR) images. At the early stage of the disease, white matter hyperintensities were often found in the periventricular area, surrounding the anterior and posterior horns with a tendency to confluence, and in the fiber tract in the internal capsule. Enlargement of the lateral ventricles was also noticeable. Notably, the corpus callosum showed hyperintensities and thinning at the time of onset. The progression was relatively rapid and cortical atrophy became evident as the disease progressed. The MRI taken 5 years before the onset for the evaluation of headache showed subtle asymmetric white matter hyperintensities surrounding the anterior horns and faint signal changes and mild thinning of the corpus callosum. (B–E) Chronological changes in semiquantitative MRI scores in 7 patients with hereditary diffuse leukoencephalopathy with spheroids. MRI finding severity was evaluated from the total score (B, scores 0–57), which combines the white matter lesion (WML) score (C, 1–42) and the atrophy score (D, 0–13), and the presence of lesions in the thalamus and basal ganglia. (E) Correlation analysis between WML score and atrophy score.