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A clinical case of a patient with probable cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) from Chuvashia

https://doi.org/10.14412/2074-2711-2015-3-57-61

Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) syndrome is a congenital small-vessel disease running with recurrent lacunar infarcts and leading to gradually progressive subcortical, pseudobulbar, and cerebellar syndromes and dementia. Neuroimaging reveal multiple lacunar infarcts in the basal ganglia, thalamus, pons Varolii, and cerebral hemispheric white matter, as well as cerebral atrophy. The specific feature of the disease is white matter lesion adjacent to the temporal horns of the lateral ventricles and to the external capsules. The paper describes a patient with CADASIL syndrome. The latter runs a progressive course and includes the following neurological disorders: cognitive, pyramidal, extrapyramidal, and axial ones. This clinical case was differentially diagnosed with multiple sclerosis, including with consideration for neuroimaging findings. The CADASIL syndrome is a rare potentially menacing neurological condition that is observed in young patients and requires a detailed examination using current diagnostic techniques.

About the Authors

Tatiana Vladimirovna Mokina
Emergency Care Hospital; I.N. Ulyanov Chuvash State University, Ministry of Health of Russia
Russian Federation

47, Moskovsky Prospekt, Cheboksary 428015 Chuvashia;

Department of Psychiatry, Medical Psychology, and Neurology, 15, Moskovsky Prospekt, Cheboksary 428015 



A. V. Zvereva
Emergency Care Hospital
Russian Federation

47, Moskovsky Prospekt, Cheboksary 428015 Chuvashia;

Department of Psychiatry, Medical Psychology, and Neurology, 15, Moskovsky Prospekt, Cheboksary 428015 

 



Yu. I. Pavlov
Republical Clinical Hospital
Russian Federation
9, Moskovsky Prospekt, Cheboksary 428015


N. K. Sumkin
Emergency Care Hospital
Russian Federation
47, Moskovsky Prospekt, Cheboksary 428015 Chuvashia


T. V. Karpova
Emergency Care Hospital
Russian Federation
47, Moskovsky Prospekt, Cheboksary 428015 Chuvashia


References

1. Kalimo H, Ruchoux MM, Viitanen M, Kalaria RN. CADASIL: a common form of hereditary arteriopathy causing brain infarct and dementia. Brain Pathol. 2002 Jul;12(3):371-84.

2. Мозолевский ЮВ, Янакаева ТА, Мельникова ЕА и др. Церебральная аутосомно-доминантная артериопатия с субкортикальными инфарктами и лейкоэнцефалопатией. Неврологический журнал. 2005;(2):34-40. [Mozolevskii YuV, Yanakaeva TA, Mel'nikova EA, et al. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy. Nevrologicheskii zhurnal. 2005;(2):34-40. (In Russ.)].

3. Иллариошкин СН, Сломинский АА. Церебральная аутосомно-доминантная артериопатия с субкортикальными инфарктами и лейкоэнцефалопатией (ЦАДАСИЛ): первое описание российской семьи с идентифицированной мутацией в гене Notch3. Анналы клинической и экспериментальной неврологии. 2008;2(2):45-50. [Illarioshkin SN, Slominskii AA. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL): the first description of the Russian family with an identified mutation in the gene Notch3. Annaly klinicheskoi i eksperimental'noi nevrologii. 2008;2(2):45-50. (In Russ.)].

4. Joutel A, Corpechot C, Ducros A, et al. Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature. 1996 Oct 24;383(6602):707-10.

5. Мельников АА, Дьяченко ВВ, Фрайтер ЕВ. Случай диагностики церебральной аутосомно-доминантной артериопатии с субкортикальными инфарктами и лейкоэнцефалопатией (ЦАДАСИЛ синдром) по данным МРТ. Трудный пациент. 2015;13(5-6):37-8. [Mel'nikov AA, D'jachenko VV, Frajter EV. Case of diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL syndrome) using MRI data. Trudnyj pacient. 2015;13(5-6):37-8. (In Russ.)].

6. Davous P. CADASIL: a review with proposed diagnostic criteria. Eur J Neurol. 1998 May;5(3):219-233.

7. Tournier-Lasserve E, Joutel A, Meiki J, et al. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy maps to chromosome 19q12. Nat Genet. 1993 Mar;3(3):256-9.

8. Machicao F, Muresanu DF, Hundsberger H, et al. Pleiotropic neuroprotective and metabolic effects of Actovegin's mode of action. J Neurol Sci. 2012 Nov 15;322(1-2):222-7. doi: 10.1016/j.jns.2012.07.069. Epub 2012 Aug 19.

9. Fedorovich AA. Non-invasive evaluation of vasomotor and metabolic functions of microvascular endothelium in human skin. Microvasc Res. 2012 Jul;84(1):86-93. doi: 10.1016/j.mvr.2012.03.011. Epub 2012 Apr 4.

10. Михайлова НМ, Селезнева НД, Калын ЯБ и др. Эффективность лечения актовегином больных пожилого возраста с синдромом мягкого когнитивного снижения сосудистого генеза. Журнал неврологии и психиатрии им. С.С. Корсакова 2013;(7):69-76. [Mikhailova NM, Selezneva ND, Kalyn YaB, et al. The efficacy of Actovegin in elderly patients with the syndrome of mild cognitive decline of vascular origin. Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova. 2013;(7):69-76. (In Russ.)].

11. Guekht A, Skoog I, Korczin AD, et al. A randomized double blind placebo controlled trial of actovegin in patients with post stroke cognitive impairment ARTEMIDA study design. Dement Geriatr Cogn Dis Extra. 2013 Dec 14;3(1):459-67. doi: 10.1159/000357122. eCollection 2013.


Review

For citations:


Mokina TV, Zvereva AV, Pavlov YI, Sumkin NK, Karpova TV. A clinical case of a patient with probable cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) from Chuvashia. Nevrologiya, neiropsikhiatriya, psikhosomatika = Neurology, Neuropsychiatry, Psychosomatics. 2015;7(3):57-61. (In Russ.) https://doi.org/10.14412/2074-2711-2015-3-57-61

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ISSN 2074-2711 (Print)
ISSN 2310-1342 (Online)