r-n-jРоссийский неврологический журналRussian neurological journal2658-79472686-7192МИА10.30629/2658-79472021-26-5-30-38r-n-j-225Research ArticleКЛИНИЧЕСКИЕ ИССЛЕДОВАНИЯ И НАБЛЮДЕНИЯCLINICAL RESEARCH AND SURVEILLANCEЦеребральная аутосомно-доминантная артериопатия с субкортикальными инфарктами и лейкоэнцефалопатиейCerebral autosomo-dominant arteriopathy with subcortical infarctions and leukoencephalopathyhttps://orcid.org/0000-0003-4519-7575СавчукЕ. А.SavchukE. A.

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Simpheropol

Elena_Savchuk12@mail.ruhttps://orcid.org/0000-0003-3917-924XГолубинскаяЕ. П.GolubinskayaE. P.

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Simpheropol

missive@mail.ruhttps://orcid.org/0000-0003-3786-3195ЩербининаТ. Н.ShcherbininaT. N.

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Simpheropol

tn9512@mail.ruhttps://orcid.org/0000-0002-4936-4337ВоронинГ. Ю.VoroninG. Yu.

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Simpheropol

selikon4eg@mail.ruhttps://orcid.org/0000-0003-4519-7575СавчукЕ. О.SavchukE. O.

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Simpheropol

D_S13@mail.ruhttps://orcid.org/0000-0001-8216-4196ЗяблицкаяЕ. Ю.ZyablitskayaE. Yu.,

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evgu79@mail.ruhttps://orcid.org/0000-0003-1884-2620МакалишТ. П.MakalishT. P.

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Simpheropol

gemini_m@list.ruМедицинская академия имени С.И. Георгиевского (структурное подразделение) ФГАОУ ВО «Крымский федеральный университет имени В.И. Вернадского»РоссияMedical Academy named after S.I. Georgievsky (Structural Unit) of the Vernadsky Crimean Federal UniversityRussian Federation2021111120212653038Copyright © Савчук Е.А., Голубинская Е.П., Щербинина Т.Н., Воронин Г.Ю., Савчук Е.О., Зяблицкая Е.Ю., Макалиш Т.П., 20212021Савчук Е.А., Голубинская Е.П., Щербинина Т.Н., Воронин Г.Ю., Савчук Е.О., Зяблицкая Е.Ю., Макалиш Т.П.Savchuk E.A., Golubinskaya E.P., Shcherbinina T.N., Voronin G.Y., Savchuk E.O., Zyablitskaya E.Y., Makalish T.P.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.r-n-j.com/jour/article/view/225

В статье представлен анализ литературы и разбор клинического случая церебральной аутосомно-доминантой артериопатии с субкортикальными инфарктами и лейкоэнцефалопатией (ЦАДАСИЛ).

В его основе лежит отложение в сосудах мелкого и среднего калибра осмиофильного грануляционного материала. Мутация в гене NOTCH3 в хромосоме 19p13 приводит к значительным структурным изменениям стенок мелких артерий вследствие нарушения дифференциации и созревания гладкомышечных клеток.

ЦАДАСИЛ характеризуется четырьмя ключевыми симптомами: мигрень, повторяющиеся ишемические инсульты, психические расстройства и снижение когнитивных функций. Клинический разбор случая представлен с позиций мультидисциплинарного пациент-ориентированного подхода совместной работы неврологов и морфологов. На основании клинико-лабораторных критериев поставлен вероятный диагноз. Для его подтверждения выполнена биопсия мышц (кожно-мышечного лоскута с внутренней поверхности бедер и предплечий) с целью проведения световой и электронной микроскопии. Представлена детализация результатов морфологического исследования, позволившего верифицировать диагноз. Приведены дифференциально-диагностические суждения и даны рекомендации по дальнейшему генетическому тестированию в семье, лечению и прогнозу.

The article presents an analysis of the literature and a clinical case of a rare disease from the group of diseases of small vessels — cerebral autosomal dominant arteriopathy with subcortical infarction and leukoencephalopathy (CADASIL).

It is based on the deposition of osmiophilic granulation material in vessels of small and medium caliber. A mutation in the NOTCH3 gene on chromosome 19p13 leads to significant structural changes in the walls of small arteries due to impaired differentiation and maturation of smooth muscle cells.

CADASIL is characterized by four key symptoms: migraines, recurrent ischemic strokes, mental disorders, and cognitive decline. The clinical case study is presented from the standpoint of a multidisciplinary patient-oriented approach of joint work of neurologists and morphologists. On the basis of clinical and laboratory criteria, a probable diagnosis was made. To confirm it, a muscle biopsy was performed (a musculocutaneous flap from the inner surface of the thighs and forearms), in order to conduct light and electron microscopy. The details of the results of the morphological study, which made it possible to verify the patient’s diagnosis, are presented. Differential diagnostic judgments are presented and recommendations for genetic studies in the family, prognosis and treatment of the patient are given.

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