Fig. 2
From: Long term follow-up of multiorgan disease in Kleefstra syndrome 2 in an adult – case report
MRI Brain August 2017 FLAIR images showing (A) subtle bilateral cerebellar and (B) bilateral occipital cortical and subcortical white matter hyperintensities. These findings were thought to represent posterior reversible encephalopathy syndrome (PRES). MRI Brain in March 2019 (C, D, E) shows (C) left temporal and left parietal cortical and subcortical white matter FLAIR hyperintensities with vasogenic oedema, (D) left temporal and left occipital T2-weighted hyperintensities. E corresponding areas of patchy DWI hyperintensity. These new changes in the left cerebral hemisphere resemble stroke-like changes secondary to mitochondrial encephalopathy with stroke-like episodes (MELAS). Corresponding MRI Brain in June 2019 (F, G, H) shows temporal evolution of the changes observed in (C, D, E) with interval reduction of vasogenic oedema, stable DWI signal and interval development of gliotic changes. MRI Brain in March 2021 reveal right fronto-parieto-occipital cortical and subcortical white matter (I) DWI hyperintensity and (J) T2 hyperintensity with vasogenic oedema. MRI Brain in January 2022 reveal (K) interval development of gliotic changes in the right cerebral hemisphere. Note the pre-exisiting gliotic changes in the left cerebral hemisphere secondary to the stroke-like episode in March 2019. (A, B) Axial FLAIR; (C, F) Coronal FLAIR; (D, G, J, K) Axial T2-weighted; (E, H) Axial DWI