A clinical case of a new coronavirus infection (COVID-19) with fatal outcome in a patient with tuberous sclerosis

• Published in: Izvestii͡a︡ vysshikh uchebnykh zavedeniĭ. Povolzhskiĭ region no. 1
• Main Authors: Kvasova, O.G., Tomashevskaya, Yu.A., Alimova, I.N., Klimova, E.A., Sadovnikova, E.A.
• Format: Journal Article
• Language: English
• Published: Penza State University Publishing House 01-05-2024
• Subjects: angiomyolipomas; covid-19; orphan diseases; pringle–bourneville disease; tuberous sclerosis
• ISSN: 2072-3032
• DOI: 10.21685/2072-3032-2024-1-12

Background. Tuberous sclerosis (TS) is a genetically determined disease with an autosomal dominant type of inheritance. In the population, TS occurs with a frequency of 1:10000 (in newborns 1:6000). The disease is characterized by a variety of clinical manifestations involving the nervous system, brain, heart, lungs, liver, kidneys, gastrointestinal tract, skin with appendages, bones. The steadily progressing course of TS inevitably leads to a reduction in the patient's life, disruption of the functions of organs and systems, disability. People with concomitant diseases are at a higher risk of contracting coronavirus infection (COVID-19) and a worse prognosis, but there is little information about patients with orphan diseases and COVID-19. The purpose of the study is to analyze the clinical picture of tuberous sclerosis with lesions of many organs and systems and COVID-19, to assess the need for early diagnosis and the appointment of pathogenetic therapy. Materials and methods. A retrospective analysis of the clinical case of a 48-year-old patient hospitalized with interstitial pneumonia during the COVID-19 pandemic in the infectious diseases department of Penza Regional Clinical Hospital named after N. N. Burdenko. Results. The presented clinical case demonstrates possible difficulties in the early diagnosis of rare diseases. Late verification of the diagnosis leads to untimely appointment of pathogenetic therapy, loss of organ function and disability of the patient. Patients with rare genetic diseases have a high risk of infection with SARS-CoV-2 and an unfavorable prognosis.