Typical cerebral MRI of eIF2B mutated individuals

Cerebral MRI of Individuals 393-2 (A, B, C), 522 (D, E, F), 941-1 (G, H), and 1014 (I) performed at 1, 7, 23, and 16 years of age. In the hemispheric white matter, an abnormal diffuse signal, characterized by a hyposignal on T1-weighted sequences imaging (A, D) and hypersignal on T2 (B, E, G) and on fluid attenuated inversion recovery (FLAIR) sequences imaging (C, F, H, I), is observed. Individuals who had an infantile (C; arrow) and childhood (F; arrow) onset form have extensive CSF-like abnormal signal within the abnormal white matter on FLAIR sequences whereas in an individual with a juvenile/adult onset form these areas are restricted to the frontal white matter on FLAIR sequences (H; arrow). Individual 1014, who experienced secondary amenorrhea and episodes of headache, had a normal neurologic examination at 16 and no cavitations of the white matter on FLAIR sequences (I).