Neuroimaging of Subjects 1 and 2
(A and B) Axial T2 imaging of subject 1 shows diffusely abnormal hyperintensity of the entire white matter and decreased cortical folding for her age (A). Signal abnormalities within the brain stem and strikingly low signal affecting red nuclei (arrowheads) are also apparent (B).
(C) Axial T2 imaging of subject 2 shows extensive signal abnormalities of the cerebral white matter, including the corpus callosum. In addition, basal ganglia are affected, especially the putamen and caudate nucleus (arrowheads).
(D) Axial FLAIR imaging of subject 2 shows partial cystic degeneration of the affected cerebral white matter (arrowheads).