Figure 2.

Brain-Imaging Features in Individuals with TBCK-Related Encephalopathy

(A–D) Axial T2-weighted (A and C) and sagittal T1-weighted images (B and D) show progressive loss of gray- and white-matter volume (most severe in the frontal lobes), demonstrated by increasing ventriculomegaly and extra-axial spaces (cortical and cerebellar) in individual A-II-1 between 22 days of age (A and B) and 29 months of age (C and D). Also present are swelling of the right parieto-occipital lobe, presumably due to a metabolic stroke (bracket in C), a diffusely thin corpus callosum with absent rostrum (arrowheads in B and D), and mild cerebellar vermis hypoplasia with a relatively spared brainstem.

(E and F) Axial T2-weighted (E) and sagittal T1-weighted (F) images show ventriculomegaly, prominent extra-axial spaces, a diffusely thin but complete corpus callosum, and mild cerebellar vermis hypoplasia in individual B-IV-4 at 18 months of age. Right plagiocephaly is also present.

(G and H) Axial T2-weighted (G) and sagittal T1-weighted (H) images show marked ventriculomegaly, prominent extra-axial spaces, a diffusely thin but complete corpus callosum, and mild cerebellar vermis hypoplasia in individual B-IV-6 at 6 years of age. Synechiae are also present in the right frontal horn (asterisks in G).

(I and J) Axial T1-weighted (I) and sagittal T1-weighted (J) images show ventriculomegaly, prominent extra-axial spaces, a diffusely thin corpus callosum with an absent rostrum and anterior body (arrowhead in J), and mild cerebellar vermis hypoplasia in individual C-II-1 at 21 months of age.

(K and L) Axial T2-weighted (K) and sagittal T1-weighted (L) images show mild ventriculomegaly, prominent extra-axial spaces, a diffusely thin corpus callosum, mild cerebellar vermis hypoplasia with a relatively preserved brainstem, and a thick frontal bone (arrow in K) in individual D-II-1 at 14 years of age.