Patients With Berardinelli-Seip and Silver-Russell Syndromes Hospitalized due to Coronavirus Disease (COVID)-19 in

Luiz Felipe Azevedo Marques1,2,3, Adriele Evelyn Ferreira Silva1,2,3, Patrícia Teixeira Costa1,2,3

  • 1Laboratory of Molecular Biology and Genetics, Postgraduate Program in Health Sciences, Postgraduate Program in Health Data Science, São Francisco University (USF, of the Portuguese Universidade São Francisco), Bragança Paulista, São Paulo, Brazil.

Insights

This study on Berardinelli-Seip syndrome and Silver-Russell syndrome patients with COVID-19 found no consistent link between these rare diseases and severe outcomes. Most patients recovered, suggesting multidisciplinary care may improve prognosis in rare genetic disorders during pandemics.

Area of Science:

  • Endocrinology
  • Genetics
  • Infectious Diseases

Background:

  • Berardinelli-Seip syndrome and Silver-Russell syndrome are rare genetic disorders associated with metabolic complications.
  • These conditions may potentially worsen outcomes for coronavirus disease (COVID)-19.
  • Understanding COVID-19's impact on rare diseases is crucial for public health preparedness.

Purpose of the Study:

  • To analyze the outcomes of hospitalized patients with Berardinelli-Seip syndrome or Silver-Russell syndrome who contracted COVID-19.
  • To investigate potential associations between these rare genetic conditions and COVID-19 severity.
  • To inform clinical management and risk stratification for rare diseases during pandemics.

Main Methods:

  • Retrospective analysis of five hospitalized patients in Brazil with confirmed COVID-19.
  • Two patients had Berardinelli-Seip syndrome, and three had Silver-Russell syndrome.
  • Data collected on symptoms, hospitalization, intensive care needs, and outcomes.

Main Results:

  • Most patients presented with respiratory symptoms and hypoxia; two required intensive care, and two needed noninvasive ventilation.
  • One unvaccinated patient with Berardinelli-Seip syndrome and comorbidities died; four patients were discharged.
  • Hospital stays were short, and overall progression was under two weeks, with no consistent association between syndrome type and COVID-19 severity.

Conclusions:

  • Contrary to expectations, Berardinelli-Seip syndrome and Silver-Russell syndrome were not uniformly associated with poor COVID-19 outcomes in this small cohort.
  • Regular multidisciplinary follow-up may have contributed to favorable outcomes, particularly in Silver-Russell syndrome patients.
  • Larger studies are needed to clarify interactions between rare diseases and COVID-19 for improved risk assessment and management.

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