COVID 19 in a family with rare genetic disease of the nervous system
Abstract
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.
Keywords
tuberous sclerosis,
brain,
epilepsy,
lymphangioleiomyomatosis,
COVID-19,
SARS-CoV-2,
mTORC1,
rapamycin,
everolimus
About the Authors
M. Yu. Martynov
N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia;
Federal Center of Brain and Neurotechnologies, FMBA of Russia
Russian Federation
Russian Federation
1, Ostrovityanov St., Moscow 117997;
1, Ostrovityanov St., Build 10, Moscow 117513
V. A. Kutashov
N.N. Burdenko Voronezh State Medical University, Ministry of Health of Russia
Russian Federation
Russian Federation
10, Studencheskaya St., Voronezh 394036
O. V. Ulyanova
N.N. Burdenko Voronezh State Medical University, Ministry of Health of Russia
Russian Federation
Russian Federation
10, Studencheskaya St., Voronezh 394036
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Review
For citations:
Martynov M.Yu., Kutashov V.A., Ulyanova O.V. COVID 19 in a family with rare genetic disease of the nervous system. Neurology, Neuropsychiatry, Psychosomatics. 2022;14(1):108-114. https://doi.org/10.14412/2074-2711-2022-1-108-114
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