Clinical case: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

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Abstract

The article presents a clinical case of a female patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). A literature analysis results and information on etiology, clinical presentation and pathogenesis of the disease are given. In our clinical case CADASIL in a 56 year old woman was verified with molecular genetic testing. The diagnostic challanges are in simularity of clinical manifestations in small vessel disease group. With increase of CADASIL awareness data on its prevalence and disease course will be specified thal will allow development of more rational methods for detection of these patients from the leucoencephalopathies group.

About the authors

E. V Blokhina

City clinical hospital №13 of the Department of Health of Moscow

Email: koshak005@gmail.com
врач-невролог 115280, Russian Federation, Moscow, ul. Velozavodskaia, d. 1/1

K. A Kozlova

City clinical hospital №13 of the Department of Health of Moscow

Email: kseniya55555@mail.ru
115280, Russian Federation, Moscow, ul. Velozavodskaia, d. 1/1

E. V Iskander

N.I.Pirogov Russian National Research Medical University of the Ministry of Health of the Russian Federation

Email: local93@yandex.ru
студент V курса 117997, Russian Federation, Moscow, ul. Ostrovitianova, d. 1

E. Yu Soloveva

N.I.Pirogov Russian National Research Medical University of the Ministry of Health of the Russian Federation

Email: ellasolovieva@yandex.ru
д-р мед. наук, проф. каф. неврологии ФДПО 117997, Russian Federation, Moscow, ul. Ostrovitianova, d. 1

References

  1. Di Donato I et al. Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects. BMC Med 2017; 15 (1): 41.
  2. Иллариошкин С.Н. и др. 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).
  3. Moreton F.C et al. Changing clinical patterns and increasing prevalence in CADASIL. Acta Neurol Scand 2014; 130 (3): 197-203.
  4. Joutel A et al. Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature 1996; 383 (66020): 707.
  5. Meester J.A.N et al. Overlapping but distinct roles for NOTCH receptors in human cardiovascular disease. Clin Genet 2018. doi: 10.1111/cge.13382
  6. Morroni M et al. Role of electron microscopy in the diagnosis of CADASIL syndrome: a study of 32 patients. PLoS One 2013; 8 (6): e65482.
  7. Duering M et al. Co-aggregate formation of CADASIL-mutant NOTCH3: a single-particle analysis. Hum Mol Genet 2011; 20 (16): 3256-65.
  8. Perneczky R et al. Is the time ripe for new diagnostic criteria of cognitive impairment due to cerebrovascular disease? Consensus report of the International Congress on Vascular Dementia working group. BMC Med 2016; 14 (1): 162.
  9. Carone D.A. CADASIL and multiple sclerosis: A case report of prolonged misdiagnosis. Appl Neuropsychol: Adult 2017; 24 (3): 294-7.
  10. Yanagawa S et al. Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy. Neurology 2002; 58 (5): 817-20.

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