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Hereditary diffuse leukoencephalopathy with axonal spheroids: description of a clinical case
https://doi.org/10.33667/2078-5631-2025-2-56-59
Abstract
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.
Сlinical Сase 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.
About the Authors
E. S. Ostapchuk
Tyumen State Medical University, Tyumen; The Regional Clinical Hospital № 1
Russian Federation
Russian Federation
Ostapchuk Ekaterina S., PhD Med, associate professor at Dept of Neurology; head. Nneurological Dept
Tyumen
O. P. Glinin
Tyumen State Medical University
Russian Federation
Russian Federation
Glinin Oleg P., resident physician, neurologist
Tyumen
M. V. Malahov
The Regional Clinical Hospital № 1
Russian Federation
Russian Federation
Malahov Maxim V., radiologist
Tyumen
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Review
For citations:
Ostapchuk E.S., Glinin O.P., Malahov M.V. Hereditary diffuse leukoencephalopathy with axonal spheroids: description of a clinical case. Medical alphabet. 2025;(2):56-59. (In Russ.) https://doi.org/10.33667/2078-5631-2025-2-56-59
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