case_images: PMC10704898_01
case_images: PMC10704898_02
case_images: PMC10704898_03
case_images: PMC10704898_04
case_images: (A-D) MRI brain at 1 year of age in case 4. (A) Axial T2 and (B) FLAIR sections at the level of the basal ganglia show atrophy and hyperintensity in the head of the caudate nucleus and lentiform nuclei bilaterally (arrow) with hydrocephalus (C) T2-axial section at the level of the pons shows hyperintensity in central tegmental tract with (D) diffusion restriction (arrow).
case_images: fneur-14-1265115-g001.jpg
case_images: PMC10704898_04_fneur-14-1265115-g001.jpg
case_images: fig1
case_images: T2/FLAIR hyperintensity in the head of the caudate nucleus and lentiform nuclei bilaterally, with the absence of diffusion restriction and the presence of hydrocephalus (Figures 1A-C). T2 hyperintensity with diffusion restriction in the central tegmental tract was additionally noted (Figure 1D).
case_images: PMC10704898_05
case_images: (A-C) MRI brain at 2 years of age in case 5. (A) T2-axial view at the level of the basal ganglia and (B) third ventricle show atrophy and hyperintensity in the head of the caudate nucleus and lentiform nuclei bilaterally with hydrocephalus (C) FLAIR axial sections show similar changes.
case_images: fneur-14-1265115-g002.jpg
case_images: PMC10704898_05_fneur-14-1265115-g002.jpg
case_images: fig2
case_images: MMA. MRI imaging at 2 years of age showed mild diffuse cerebral atrophy and hyperintensities in bilateral globus pallidi, caudate, and putamen on T2/FLAIR sequences without diffusion restriction, dilated frontal horns of lateral ventricles, focal bilateral symmetrical hyperintensities in the periventricular and subcortical white matter of temporal and frontal lobes, and normal MR spectroscopy (Figures 2A-C).