Cavitating Leukoencephalopathy in a Child Carrying the Mitochondrial A8344G Mutation

A–E, Brain MR images at 18 months of age. F, Follow-up MR image at 33 months of age. A, Axial fluid-attenuated inversion recovery (FLAIR) image shows a concentric pattern of leukoencephalopathy with central cavitations (arrowheads), intermediate isointensity (asterisks), and an outer hyperintense rim (arrows). The subcortical white matter is spared. B and C, Axial diffusion-weighted image (B) and corresponding apparent diffusion coefficient map (C) show extensive restriction of diffusivity in the abnormal white matter with increased diffusivity in the central cavitations (asterisks). D, Sagittal T1-weighted image shows involvement of the corpus callosum with swelling and central cavitations (arrowheads). E, Proton MR spectroscopy obtained with a single-voxel point-resolved spectroscopy sequence technique at a TE of 144 ms. Sampling of the abnormal white matter of the left frontal lobe shows increased Cho/Cr and reduced NAA/Cr ratios, and Lac at 1.44 ppm. F, Axial FLAIR image obtained in the burnt-out stage with atrophic involution of the affected white matter and collapsed cavitations (arrow). There was corresponding increased diffusivity of affected white matter (not shown).