Baricitinib Treatment in RNU7-1-Associated Aicardi-Goutieres Syndrome in a South African Child: A Case Report.

ABSTRACT: Aicardi-Goutières syndrome (AGS) is a rare monogenic type I interferonopathy. Janus kinase (JAK) inhibition has emerged as a potential treatment for AGS. RNU7-1 is one of the most recently discovered genes for AGS, and the clinical effects of JAK inhibition in these patients have not been reported. Here, we describe the diagnosis and treatment of a South African infant with RNU7-1-related AGS. The patient presented with developmental delay at age 5 months and was diagnosed with cerebral palsy due to a suspected congenital infection. By 18 months of age, he had a vasculitic rash, prominent generalized dystonia, persistent transaminitis, recurrent stomatitis, moderate-range global developmental delay, and difficulty sleeping. AGS was considered after finding neuroimaging features of the dise

SUBMITTER: Spracklen TF 

PROVIDER: S-EPMC7617338 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature