Selected MRI images demonstrate an 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.