• Zbigniew J Król, Małgorzata Dorobek, Maciej Dąbrowski, Justyna Zielińska-Turek, Bartosz Mruk, Jerzy Walecki, Katarzyna Sklinda, Robert Gil, Agnieszka Pawlak, Marzena Wojtaszewska, Adrian Lejman, Paula Dobosz, Paweł Zawadzki, Aneta Pawłowska, Michał Szczepaniak, Dorota Król, Artur Zaczyński, and Waldemar Wierzba.
• Central Clinical Hospital of the Ministry of Interior and Administration, Warsaw, Poland.
• Arch Med Sci. 2023 Jan 1; 19 (6): 178117941781-1794.

IntroductionIn the following study we describe the diagnostic process and further case analysis of a 30-year-old woman admitted with typical COVID-19 symptoms, who subsequently developed additional symptoms suggesting cerebral autosomal dominant arteriopathy with sub-cortical infarcts and leukoencephalopathy (CADASIL).Material And MethodsOther than the standard diagnostic procedures, whole genome sequencing (WGS) was used, which led to following findings. A new variant of the NOTCH3 gene, which led to CADASIL-like symptoms, was found, and it had been most likely activated by the SARS-CoV-2 infection. This novel variant in NOTCH3 has not been found in existing databases and has never been mentioned in research concerning CADASIL before.ResultsFurthermore, after subjecting the patient's close relatives to WGS it was found that no other examined person demonstrated the same genetic mutation.ConclusionsIt seems therefore that the new variant of NOTCH3 is of de novo origin in the patient's genome. Additionally, the relatively early onset of CADASIL and the unexpectedly severe COVID-19 infection suggest that the two occurred simultaneously: the infection with SARS-CoV-2 accelerated development of CADASIL symptoms and the unusual variant of the NOTCH3 gene contributed to the more severe course of COVID-19.Copyright: © 2022 Termedia & Banach.

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