Case Report: Generalised Panniculitis as a Post-COVID-19 Presentation in Aicardi-Goutieres Syndrome Treated With Ruxolitinib.

ABSTRACT: Aicardi-Goutières syndrome (AGS) is a rare hereditary early-onset encephalopathy. The syndrome was first described in 1984, and is characterised by upregulation of the type I interferon (IFN) pathway, which is involved in the host immune response against viral infections, including SARS-CoV-2. Whilst defects in type I IFN pathways have been described in association with severe coronavirus disease 2019 (COVID-19), less is known about the outcomes of upregulation. We describe an unusual case of generalised panniculitis as a post-COVID-19 phenomenon in a child with AGS. Our patient was initially managed with systemic steroid therapy, but due to relapse of symptoms on weaning, an alternative therapy was sought. In this case, a novel use of ruxolitinib, a JAK inhibitor, has resulted in lasting

SUBMITTER: Pararajasingam A 

PROVIDER: S-EPMC9085217 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature