Megalencephalic leukoencephalopathy with subcortical cysts
Delayed motor and developmental milestones with recurrent attacks of seizures.
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Bilateral white matter abnormal signal change that involves the frontotemporal regions on both sides, and to a lesser extent the parietal lobes, with involvement of the subcortical U-fibers. No evidence of diffusion restriction.
Associated are subcortical cysts, noted larger at the temporal poles with other smaller subcortical cysts in the frontal lobes.
Global atrophic brain changes that are not consistent with patient's age.
Megalencephalic leukoencephalopathy with subcortical cysts, also known as van der Knaap disease, is a rare genetic disease with a mutation that affects astrocytic function. Although this case demonstrates the typical MRI findings, the confirmation of the mutation requires genetic tests that were unfortunately not available.