11 year old boy with developmental delay and new onset seizures.
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The white matter is abnormal with areas of high T2 signal. MRS demonstrates elevation of choline. Alpha-glutamate peak is not visible.
Selected MRI images demonstrate abnormal white matter, particularly posteriorly and in the periventricular region. It is characterised by bilateral symmetric deep white matter hyperintensity on T2 weighted images, with associated involvement of the subcortical white matter, which results in poor grey-white matter differentiation on T2 weighted images.
MRS demonstrates elevation of choline (Cho). Alpha-glutamate peak is not visible.
Features are consistent with subsequently established 18q syndrome.