medalphabetМедицинский алфавитMedical alphabet2078-56312949-2807ООО «Альфмед»10.33667/2078-5631-2025-2-56-59medalphabet-4256Research ArticleНЕВРОЛОГИЯ И ПСИХИАТРИЯNEUROLOGY AND PSYCHIATRYНаследственная диффузная лейкоэнцефалопатия с аксональными сфероидами: описание клинического случаяHereditary diffuse leukoencephalopathy with axonal spheroids: description of a clinical casehttps://orcid.org/0000-0003-1176-4113ОстапчукЕ. С.OstapchukE. S.

Остапчук Екатерина Сергеевна, к. м. н., доцент кафедры неврологии; зав. неврологическим отделением

г. Тюмень

 Ostapchuk Ekaterina S., PhD Med, associate professor at Dept of Neurology; head. Nneurological Dept

Tyumen

ostapchukes2008@mail.ruhttps://orcid.org/0009-0007-8911-2007ГлининО. П.GlininO. P.

 Глинин Олег Павлович, врач-ординатор, невролог

г. Тюмень

Glinin Oleg P., resident physician, neurologist

Tyumen

https://orcid.org/0009-0000-4277-5857МалаховМ. В.MalahovM. V.

Малахов Максим Владимирович, врач лучевой диагностики

 г. Тюмень

 Malahov Maxim V., radiologist

Tyumen

ФГБОУ ВО «Тюменский государственный медицинский университет» Минздрава России; ГБУЗ ТО «Областная клиническая больница № 1»РоссияTyumen State Medical University, Tyumen; The Regional Clinical Hospital № 1Russian FederationФГБОУ ВО «Тюменский государственный медицинский университет» Минздрава РоссииРоссияTyumen State Medical UniversityRussian FederationГБУЗ ТО «Областная клиническая больница № 1»РоссияThe Regional Clinical Hospital № 1Russian Federation20252803202502«Неврология и психиатрия» (1)5659Copyright © Остапчук Е.С., Глинин О.П., Малахов М.В., 20252025Остапчук Е.С., Глинин О.П., Малахов М.В.Ostapchuk E.S., Glinin O.P., Malahov M.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.med-alphabet.com/jour/article/view/4256Обоснование

Обоснование. Наследственная диффузная лейкоэнцефалопатия с аксональными сфероидами – генетически обусловленная мутация гена CSF1R с изменением белого вещества головного мозга. Основными исследованиями в постановке диагноза являются магнитно-резонансная томография (МРТ) головного мозга и генетическое исследование.

 Описание клинического случая. Нами описан клинический случай наследственной диффузной лейкоэнцефалопатии с аксональными сфероидами у женщины, подтвержденный генетическими исследованиями. Клиническая картина проявлялась когнитивными, аффективными, двигательными нарушениями, судорожным синдромом.

 Заключение

 Заключение. Наследственные лейкоэнцефалопатии являются относительно редкими заболеваниями, понимание их патогенеза и клинической картины значительно расширило знания о нейродегенеративных заболеваниях.

Background

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

 Conclusion. Hereditary leukoencephalopathies are relatively rare diseases, understanding their pathogenesis and clinical picture has significantly expanded knowledge about neurodegenerative diseases.

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The authors declare that there are no conflicts of interest present.