Megalencephalic leukoencephalopathy with subcortical cysts
Updates to Study Attributes
Bilateral white matter abnormal signal change that involves the fronto-temporalfrontotemporal regions on both sides, and to a lesser extent the parietal lobes, with involvement of the subcortical U fibers. Associated few subcortical cysts are noted larger at the temporal poles, other smaller at the frontal lobes-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.
Updates to Case Attributes
Megalencephalic leukoencephalopathy with subcortical cysts, also known as van der Knaap disease, is a rare genetic disease with a mutation that affects astrocytic function. Formerly, it was termed Van der Knaap diseases. AlthoughAlthough this case demonstrates the typical MRMRI findings, the confirmation of the mutation requires genetic tests that arewere unfortunately not available.
-<p><a title="Megalencephalic leukoencephalopathy with subcortical cysts" href="/articles/megalencephalic-leukoencephalopathy-with-subcortical-cysts-1">Megalencephalic leukoencephalopathy with subcortical cysts</a> is a rare genetic disease with a mutation that affects astrocytic function. Formerly, it was termed Van der Knaap diseases. Although the typical MR findings, the confirmation of the mutation requires genetic tests that are not available. </p>- +<p><a href="/articles/megalencephalic-leukoencephalopathy-with-subcortical-cysts-1">Megalencephalic leukoencephalopathy with subcortical cysts</a>, 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. </p>
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