Annals of Clinical and Experimental NeurologyAnnals of Clinical and Experimental NeurologyАнналы клинической и экспериментальной неврологии2075-54732409-2533Eco-Vector46210.17816/ACEN.2017.1.6166Clinical analysisКлинический разборUnknownAtypical clinical cases of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)Атипичные клинические случаи церебральной аутосомно- доминантной артериопатии с субкортикальными инфарктами и лейкоэнцефалопатией (ЦАДАСИЛ)MorozAnna A.МорозАнна Андреевна
Russian Federation
snillario@gmail.comAbramychevaNatalia Yu.АбрамычеваНаталья Юрьевна
Russian Federation
snillario@gmail.comIvanovaEkaterina O.ИвановаЕкатерина Олеговна
Russian Federation
snillario@gmail.comhttps://orcid.org/0000-0001-5539-245XKonovalovRodion N.КоноваловРодион Николаевич
Russian Federation

Cand. Sci. (Med.), senior researcher, Neuroradiology department

к.м.н., с.н.с. отд. лучевой диагностики

snillario@gmail.comTimerbaevaSofiya L.ТимербаеваСофия Л.
Russian Federation
snillario@gmail.comhttps://orcid.org/0000-0002-2704-6282IllarioshkinSergey N.ИллариошкинСергей Николаевич
Russian Federation

D. Sci. (Med.), Prof., Corr. Member of the Russian Academy of Sciences, Deputy Director, Head, Department for brain research

д.м.н., проф., член-корр. РАН, зам. директора по научной работе, рук. отдела исследований мозга

snillario@gmail.comResearch Center of NeurologyФГБНУ «Научный центр неврологии»12052017111687220042017Copyright ©; 2017, Moroz A.A., Abramycheva N.A., Ivanova E.O., Konovalov R.N., Timerbaeva S.L., Illarioshkin S.N.Copyright ©; 2017, Moroz A.A., Abramycheva N.A., Ivanova E.O., Konovalov R.N., Timerbaeva S.L., Illarioshkin S.N.2017Moroz A.A., Abramycheva N.A., Ivanova E.O., Konovalov R.N., Timerbaeva S.L., Illarioshkin S.N.Moroz A.A., Abramycheva N.A., Ivanova E.O., Konovalov R.N., Timerbaeva S.L., Illarioshkin S.N.https://creativecommons.org/licenses/by/4.0https://annaly-nevrologii.com/pathID/article/view/462

C

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary CNS disease with autosomal dominant inheritance caused by NOTCH3 gene mutations. In classic cases, CADASIL manifests with headaches, repeated cerebrovascular disorders, and progressive cognitive decline. Cerebral magnetic resonance imaging plays an important diagnostic role as it reveals multiple lacunar infarcts in the basal ganglia, brainstem, and cerebellum, as well as focal white matter lesions and diffuse leukoaraiosis changes. CADASIL can sometimes have other symptoms and be disguised as phenotypes atypical of this disease. We report two genetically confirmed cases of CADASIL with atypical clinical presentation that manifested with predominantly cerebellar or essential tremor combined with cognitive and affective disorders. The main principles of diagnosis of this disease characterized by clinical polymorphism are discussed.

Церебральная аутосомно-доминантная артериопатия с субкортикальными инфарктами и лейкоэнцефалопатией (ЦАДАСИЛ) – наследственное заболевание центральной нервной системы c передачей по аутосомно-доминантному типу, обусловленное мутациями гена NOTCH3. В классических случаях ЦАДАСИЛ проявляется головными болями, повторными нарушениями мозгового кровообращения и прогрессирующим когнитивным снижением. Важное диагностическое значение имеет церебральная магнитно-резонансная томография, выявляющая множественные лакунарные инфаркты в области базальных ядер, ствола мозга и мозжечка, очаговые изменения белого вещества и диффузные изменения по типу лейкоареоза. Изредка ЦАДАСИЛ может проявляться иными симптомами и протекать под маской необычных для данного заболевания фенотипов. Мы приводим два генетически подтвержденных случая ЦАДАСИЛ с атипичной клинической картиной, манифестировавших в виде тремора преимущественно мозжечкового либо эссенциального типа в сочетании с когнитивными и аффективными нарушениями. Обсуждаются основные принципы диагностики данногоклинически полиморфного заболевания.

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