A clinical case of CADASIL syndrome

March 21, 2024
359
УДК:  616.857+616-056.7
Resume

Literary information on the rather rare CADASIL syndrome is given and the actual observation of this clinical case in a patient treated in a neurological clinic is described. The course of the disease, clinical symptoms, diagnostic measures and treatment tactics are described in detail.

References

  • 1. Yuan L., Chen X., Jankovic J., Deng H. (2024) CADASIL: A NOTCH3-associated cerebral small vessel disease. J. Adv. Res.: S2090-1232(24)00001-8.
  • 2. Yamamoto Y., Liao Y.C., Lee Y.C. et al. (2023) Update on the Epidemiology, Pathogenesis, and Biomarkers of Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy. J. Clin. Neurol., 19(1): 12–27.
  • 3. Tournier-Lasserve E., Joutel A., Melki J. et al. (1993) Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12. Nat. Genet., 3(3): 256–259. doi: 10.1038/ng0393-256.
  • 4. Mizuta I., Nakao-Azuma Y., Yoshida H. et al. (2024) Progress to Clarify How NOTCH3 Mutations Lead to CADASIL, a Hereditary Cerebral Small Vessel Disease. Biomolecules, 14(1): 127. doi: 10.3390/biom14010127.
  • 5. Ihalainen S., Soliymani R., Iivanainen E. et al. (2007) Proteome analysis of cultivated vascular smooth muscle cells from a CADASIL patient. Mol. Med., 13: 305–314.
  • 6. Nannucci S., Pescini F., Bertaccini B. et al. (2015) Clinical, familial, and neuroimaging features of CADASIL-like patients. doi.org/10.1111/ane.12284.
  • 7. Davous P. (1998) CADASIL: a review with proposed diagnostic criteria. Eur. J. Neurol., 5(3): 219–233. doi: 10.1046/j.1468-1331.1998.530219.x.
  • 8. Mizuta I., Watanabe-Hosomi A., Koizumi T. et al. (2017) New diagnostic criteria for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukocencephalopathy in Japan. J. Neurol. Sci., 38: 62–67.
  • 9. Lesnik Oberstein S.A., Jukema J.W., Van Duinen S.G. et al. (2003) Myocardial infarction in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Medicine (Baltimore), 82: 251–256.
  • 10. Nelis P., Kleffner I., Burg M.C. et al. (2018) OCT-Angiography reveals reduced vessel density in the deep retinal plexus of CADASIL patients. Sci. Rep., 8: 8148.
  • 11. Ragno M., Trojano L., Pianese L. et al. (2012) Renal involvement in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): report of a case with a six-year follow-up. Histol. Histopathol., 27: 1307–1314. doi.org/10.5414/cnp67182.
  • 12. Hack R.J., Rutten J., Lesnik Oberstein S.A.J. (2000) CADASIL [Updated 2019 Mar. 14]. In: Adam M.P., Feldman J., Mirzaa G.M. et al. (Eds.). University of Washington, Seattle, 1993–2024.
  • 13. Tan R.Y.Y., Markus H.S. (2016) CADASIL: Migraine, Encephalopathy, Stroke and Their Inter-Relationships. PLoS One, 11: e0157613.
  • 14. Aguilar-Fuentes V., Justo-Hernández D., Arredondo-Dubois J.M. et al. (2023) Palliative care in CADASIL: diagnosis is only the first step. Arq Neuropsiquiatr., 81(11): 1022–1024. doi: 10.1055/s-0043-1777009.
  • 15. Charidimou A., Turc G., Oppenheim C. et al. (2017) Microbleeds, cerebral hemorrhage, and functional outcome after stroke thrombolysis: individual patient data meta-analysis. Stroke, 48: 2084–2090. doi: 10.1161/JAHA.119.012814.
  • 16. Charidimou A., Karayiannis C., Song T.J. et al.; International META-MICROBLEEDS Initiative (2017) Brain microbleeds, anticoagulation, and hemorrhage risk: Meta-analysis in stroke patients with AF. Neurology, 89: 2317–2326.
  • 17. Machuca-Parra A.I., Bigger-Allen A.A., Sanchez A.V. et al. (2017) Therapeutic antibody targeting of Notch3 signaling prevents mural cell loss in CADASIL. J. Exp. Med., 214(8): 2271–2282. doi: 10.1084/jem.20161715.
  • 18. Liu X.Y., Gonzalez-Toledo M.E., Fagan A. et al. (2015) Stem cell factor and granulocyte colony-stimulating factor exhibit therapeutic effects in a mouse model of CADASIL. Neurobiol. Dis., 73: 189–203. doi: 10.1016/j.nbd.2014.09.006.