Hereditary diffuse leukoencephalopathy with axonal spheroids: description of a clinical case

Background. Hereditary diffuse leukoencephalopathy with axonal spheroids is a genetically determined mutation of the CSF1R gene with changes in the white matter of the brain. The main tests in making a diagnosis are magnetic resonance imaging (MRI) of the brain and genetic testing. С linical С ase Description . We have described a clinical case of hereditary diffuse leukoencephalopathy with axonal spheroids in a woman, confirmed by genetic studies. The clinical picture was manifested by cognitive, affective, motor disorders, and convulsive syndrome. Conclusion . Hereditary leukoencephalopathies are relatively rare diseases, understanding their pathogenesis and clinical picture has significantly expanded knowledge about neurodegenerative diseases.