Cerebral small vessel disease: illustration of a differential diagnosis on the example of a clinical case
Abstract
Cerebral disease of small vessels — a term referring to various pathological conditions and mechanisms that lead to damage to small vessels of white and gray matter of the brain, being an important cause of acute cerebrovascular accident, the development of cognitive impairment and complications of antithrombotic therapy. The article is devoted to the analysis of the differential diagnosis of cerebral amyloid angiopathy with other variants of cerebral disease of small vessels by the example of a clinical case. Is represented actual information on individual nosologies, Are described neuroimaging markers of cerebral amyloid angiopathy. Are examined the clinical manifestations of diseases, including cognitive impairment. Is highlighted the problem of making a diagnosis in this patient.
About the Authors
M. L. PospelovaRussian Federation
St. Petersburg
M. S. Krupenina
Russian Federation
St. Petersburg
T. M. Alekseeva
Russian Federation
St. Petersburg
D. M. Fedorov
Russian Federation
St. Petersburg
T. А. Pavlova
Russian Federation
St. Petersburg
N. E. Ivanova
Russian Federation
St. Petersburg
References
1. Pantoni L. Cerebral small vessel disease: from pathogenesis and clinical characteristics to therapeutic challenges. Lancet Neurol. 2010; 9(7):689–701. doi: 10.1016/S1474–4422(10)70104–6
2. Yamada M. Cerebral amyloid angiopathy and gene polymorphisms. J. Neurol. Sci. 2004; 226 (1–2): 41–44.
3. J. Tian 1, J. Shi Cerebral Amyloid Angiopathy and Dementia, Panminerva Med. 2004 Dec; 46(4):253–64.
4. Greenberg S.M., Eng J. A., Ning M. et al. Hemorrhage burden predicts recurrent intracerebral hemorrhage after lobar hemorrhage. Stroke 2004; 35: 1415–1420.
5. Chen Y.W., Gurol M. E., Rosand J. et al. Progression of white matter lesions and hemorrhages in cerebral amyloid angiopathy. Neurology 2006; 67 (1): 83–7.
6. Charidimou A., Boulouis G., Gurol M. E., Ayata C., Bacskai B.J., Frosch M.P., Viswanathan A., Greenberg S.M. Emerging concepts in sporadic cerebral amyloid angiopathy. Brain 2017; 1; 140 (7): 1829–1850. DOI: 10.1093/brain/awx047
7. Herzig M. C., Van Nostrand W. E., Jucker M. Mechanism of cerebral beta-amyloid angiopathy: murine and cellular models. Brain Pathol. 2006; 16 (1): 40–54.
8. Chao C. P., Kotsenas A. L., Broderick D. F. Cerebral amyloid angiopathy: CT and MR imaging findings. Radiographics 2006; 26 (5): 1517–31.
9. Greenberg S.M., Charidimou A. Diagnosis of cerebral amyloid angiopathy: evolution of the Boston Criteria. Stroke 2018; 49 (2): 491–497.
10. Мокина ТВ, Зверева АВ, Павлов ЮИ. и др. Клиническое наблюдение пациента из Чувашии с вероятной церебральной аутосомно-доминантной артериопатией с субкортикальными инфарктами и лейкоэнцефалопатией (ЦАДАСИЛ). Неврология, нейропсихиатрия, психосоматика. 2015;7(3):57–61.
11. Иллариошкин СН, Сломинский АА. Церебральная аутосомнодоминантная 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.
12. Chabriat H., Joutel A., Dichgans M., Tournier-Lasserve E., Bousser M. G. CADASIL. Lancet Neurology. 2009; 8 (7): 643–53. 13. Vyshka G., Kruja J. Clinical variability of the cerebral autosomaldominant arteriopathy with subcortical infarcts and leukoencefalopathy phenotype in two siblings of a large family showing the same mutation. Int. Med.Case. Rep. J. 2013; 6: 59–63.
13. Markus H.S., Martin R.J., Simpson M. A. et al. Diagnostic strategies in CADASIL. Neurology. 2002; 59: 1134–8.
14. A2 Федеральные клиничеcкие рекомендации по диагностике и лечению болезни Фабри. Москва, 2015. https://api.med-gen.ru/site/assets/files/1792/recomend-farbi.pdf
15. Rolfs A., Fazekas F., Grittner, Stroke in Young Fabry Patients (sifap) Investigators. Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients study. Stroke. 2013; 44: 34–349.
16. Волгина С.Я. Болезнь Фабри, Практическая медицина. ноябрь 2012; 7 (62): 75–79.
17. Linthorst G. E., Vedder A. C., Aerts J.M., Hollak C. E. Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers. Clin. Chim. Acta. 2005; 353: 201–203. Doi: 10.1016/j.cccn.2004.10.019
18. Koenig MK, Emrick L, Karaa A, et al. Recommendations for the management of strokelike episodes in patients with mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes. JAMA Neurol. 2016 May 1; 73(5):591–4. doi: 10.1001/jamaneurol.2015.5072.
19. El-Hattab AW, Adesina AM, Jones J, Scaglia F. MELAS syndrome: clinical manifestations, pathogenesis, and treatment options. Mol Genet Metab. 2015 Sep-Oct;116(1–2):4–12. doi: 10.1016/j.ymgme.2015.06.004. Epub 2015 Jun 15.
20. А1 Verdura, E., Herve, D., Scharrer, E., del Mar Amador, M., GuyantMarechal, L., Philippi, A., Corlobe, A., Bergametti, F., Gazal, S., Prieto-Morin, C., Beaufort, N., Le Bail, B., Viakhireva, I., Dichgans, M., Chabriat, H., Haffner, C., Tournier-Lasserve, E. Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease. Brain 138: 2347–2358, 2015. DOI: 10.1093/brain/awv155
21. A3 https://omim.org/ Online Mendelian Inheritance in Man (медицинская база «Менделевское наследование у человека») по состоянию на 8.07.2020
Review
For citations:
Pospelova M.L., Krupenina M.S., Alekseeva T.M., Fedorov D.M., Pavlova T.А., Ivanova N.E. Cerebral small vessel disease: illustration of a differential diagnosis on the example of a clinical case. Russian Neurosurgical Journal named after Professor A. L. Polenov. 2020;12(3):67-73. (In Russ.)