Year: 2026
Type: article
Study design: Case Report
Abstract: Introduction: Adult-onset Still's disease (AOSD) is a rare systemic autoinflammatory disorder characterized by dysregulation of the innate immune system and excessive cytokine production. Its presentation is often non-specific and heterogeneous, making diagnosis challenging and one of exclusion. Case description: We report the case of an 18-year-old woman admitted with quotidian fever, frequent episodes of tonsillitis, intermittent skin rash and progressive distal lower limb weakness. Neurological assessment demonstrated progressive motor neuropathy. Laboratory findings revealed neutrophilic leucocytosis, significantly elevated inflammatory markers and hyperferritinaemia. Extensive investigation excluded infectious, malignant and autoimmune causes, and the patient met the Yamaguchi classification criteria for AOSD. Treatment with systemic corticosteroids, colchicine and the interleukin-1 receptor antagonist resulted in rapid and sustained clinical improvement. Conclusion: This case highlights the diagnostic complexity of AOSD and emphasizes the importance of considering this diagnosis in patients with persistent fever, hyperferritinaemia and rare neurological manifestations. LEARNING POINTS: Adult-onset Still's disease should be considered in patients with fever of unknow origin and hyperferritinaemia.Neurological involvement, including polyneuropathy, may occur as an atypical manifestation.Early cytokine-targeted therapy is associated with rapid clinical improvement and better outcomes.
DOI: 10.12890/2026_006231
Authors: Ana Rita Freire, Nádia Santos, Patrícia Fernandes, Diana Moura, Adriana Santos Silva
Language: English
Subfield: Hematology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $323
OpenAlex ID: W7129056940