Learning difficulty at school. Visual and hearing impairments. Intermittent strabismus. Overall developmental regression.
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MRI brain demonstrate symmetrical, confluent T1 hypointense and T2 hyperintense signal abnormality involving the peritrigonal parieto-occipital white matter with extension into the subcortical U-fibers. (Figure 1, 2 and 3)
In the craniocaudal direction signal abnormality is seen in the corticospinal tracts extending from the centrum semioavle to the level of the pyramids of the medulla (Figure 3 and Figure 4). Both auditory (Figure 5) and visuals (figure 6) pathways are also involved.
The leading edge of the white matter signal abnormality demonstrate enhencement (Figure 7 and 8). No involvement of the cerebellum is evident.