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. 2019 Dec 19;106(1):92–101. doi: 10.1016/j.ajhg.2019.12.001

Figure 1.

Figure 1

Neuroimaging of Subjects Harbouring Bi-Allelic Pathogenic NDUFAF8 Variants

(A and B) Subject 1 at 5 months of age.

(C and D) Subject 2 at 2 years, 9 months of age.

(E and F) Subject 3 at 1 year, 2 months of age.

Sagittal T1-weighted imaging (T1WI) (A, C, and E) demonstrates dysmorphic corpus callosum (arrows): For subjects 1 and 2, no splenium is present (A and C), and only a small posterior part of the splenium is present in subject 3 (E). Sagittal T1WI (C and E) reveals signal abnormality in the dorsal brainstem corresponding to areas with restricted diffusion for subjects 2 and 3. Coronal T2-weighted imaging (B) of subject 1 demonstrates bilateral periventricular cysts and absent septum pellucidum (arrows). Axial T2-weighted imaging (D) depicts right frontal gray matter heterotopia in subject 2 (arrow). Axial diffusion-weighted imaging (F) shows bilateral symmetrical diffusion restriction in the putamina, thalami, and hippocampal tails in subject 3 (arrows).