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Adult-Onset Still's Disease Presenting with Progressive Motor Neuropathy.

Ana Rita Freire1, Nádia Santos1, Patrícia Fernandes1

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Summary

Adult-onset Still's disease (AOSD) is a rare autoinflammatory condition. This case highlights AOSD's diagnostic challenges, including neurological symptoms, and the effectiveness of early cytokine-targeted therapy.

Keywords:
Adult-onset Still’s diseasefever of unknown originhyperferritinaemiainterleukin-1 inhibitorspolyneuropathy

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Area of Science:

  • Rheumatology
  • Immunology
  • Neurology

Background:

  • Adult-onset Still's disease (AOSD) is a rare systemic autoinflammatory disorder.
  • It involves innate immune system dysregulation and excessive cytokine production.
  • AOSD diagnosis is challenging due to non-specific and heterogeneous presentations.

Purpose of the Study:

  • To report a case of AOSD with atypical neurological manifestations.
  • To emphasize the diagnostic complexity of AOSD.
  • To highlight the importance of considering AOSD in specific clinical scenarios.

Main Methods:

  • Case report of an 18-year-old woman.
  • Clinical presentation: quotidian fever, tonsillitis, rash, progressive motor neuropathy.
  • Diagnostic workup included exclusion of other causes and application of Yamaguchi criteria.
  • Treatment involved corticosteroids, colchicine, and IL-1 receptor antagonist.

Main Results:

  • The patient met Yamaguchi criteria for AOSD.
  • Neurological assessment revealed progressive motor neuropathy.
  • Treatment led to rapid and sustained clinical improvement.

Conclusions:

  • AOSD should be considered in patients with fever of unknown origin and hyperferritinaemia.
  • Neurological involvement, such as polyneuropathy, can be an atypical manifestation of AOSD.
  • Early cytokine-targeted therapy improves outcomes in AOSD.