"Terminology "
"MRI "
"megalencephalic leukoencephalopathy with subcortical cysts (also known as Van der Knaap disease)."
"The condition is also referred in the literature as leukoencephalopathy with bilateral anterior temporal lobe cysts and non-progressive leukoencephalopathy with bilateral anterior temporal cysts. However, those terms may cause confusion with the main differential diagnosis on imaging, which is megalencephalic leukoencephalopathy with subcortical cysts."
"The condition is also referred in the literature as leukoencephalopathy with bilateral anterior temporal lobe cysts and non-progressive leukoencephalopathy with bilateral anterior temporal cysts. However, those terms may cause confusion with the main differential diagnosis on imaging, which is megalencephalic leukoencephalopathy with subcortical cysts."
"The pathological basis of the defect remains to be defined. Genetic analyses have shown that loss-of-function mutations in the gene RNASET2, encoding the RNASET2 glycoprotein, leads to cystic leukoencephalopathy without megalencephaly 4."
Expected headings
"Terminology "
"MRI "