Open AccessCOVID 19 in a family with rare genetic disease of the nervous system
Author(s) -
M. Yu. Martynov,
В. А. Куташов,
Olga Ulyanova
Publication year - 2022
Publication title -
nevrologiâ, nejropsihiatriâ, psihosomatika
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.157
H-Index - 9
eISSN - 2310-1342
pISSN - 2074-2711
DOI - 10.14412/2074-2711-2022-1-108-114
Subject(s) - tuberous sclerosis , lymphangioleiomyomatosis , medicine , pathogenesis , everolimus , epilepsy , covid-19 , nervous system , disease , central nervous system , bioinformatics , pathology , biology , psychiatry , infectious disease (medical specialty)
We present familial tuberous sclerosis (TS) case complicated by COVID-19. COVID-19 aggravates the course of TS and may lead to a fatal outcome. We review the role of mTORC1 (mechanistic/mammalian Target of Rapamycin Complex 1) in the development and functions of the nervous system and the pathogenesis of TS and COVID-19 with emphasis on the involvement of the brain and lungs. We observed that COVID-19 worsens the course of epilepsy in patients with TS. In TS patients, lymphangioleiomyomatosis may predispose to SARS-CoV-2 invasion into the respiratory system because of the increased expression of ACE2 and TMPRSS2 in type II pneumocytes and thus may worsen the prognosis. We also review the current data on the continuation/termination of everolimus administration in patients with TS associated with COVID-19.