An adult case of megalencephalic leukoencephalopathy with subcortical cysts with S93L mutation in MLC1 gene: a case report and diffusion MRI.

摘要

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterized by clinical features including macrocephaly developed within the first year of life, slow deterioration of motor skills due to increasing ataxia and spastic-ity, mild cognitive impairment and mild clinical course 1-6. Magnetic resonance imaging (MRI) findings of this disease are well known including diffuse T_2 hyperin-tensity in cerebral white matter and subcortical cysts in the temporal and parietal regions early in its course.