PT  - JOURNAL ARTICLE
AU  - Ronald van Toorn
AU  - Magriet van Niekerk
AU  - Shahida Moosa
AU  - Pierre Goussard
AU  - Regan Solomons
TI  - <em>Adar</em>-associated Aicardi Goutières syndrome in a child with bilateral striatal necrosis and recurrent episodes of transaminitis
AID  - 10.1136/bcr-2022-252436
DP  - 2023 Mar 01
TA  - BMJ Case Reports
PG  - e252436
VI  - 16
IP  - 3
4099  - http://casereports.bmj.com/content/16/3/e252436.short
4100  - http://casereports.bmj.com/content/16/3/e252436.full
SO  - BMJ Case Reports2023 Mar 01; 16
AB  - Aicardi-Goutières syndrome (AGS) refers to a group of genetic diseases characterised by severe inflammatory encephalopathy that usually present within the first year of life, resulting in progressive loss of cognition, spasticity, dystonia and motor disability. Pathogenic variants in the adenosine deaminase acting on RNA (Adar) enzyme have been linked to AGS type 6 (AGS6, Online Mendelian Inheritance in Man (OMIM) 615010). In knockout mouse models, loss of Adar activates the interferon (IFN) pathway and causes autoimmune pathogenesis in the brain or liver. Bilateral striatal necrosis (BSN) has previously been reported in case series of children with biallelic pathogenic variants in Adar. We describe a unique, previously unreported case of a child with AGS6, with clinical manifestations of BSN and recurrent transient episodes of transaminitis. The case highlights the importance of Adar in protecting the brain and liver from IFN-induced inflammation. Adar-related disease should therefore be considered in the differential diagnosis of BSN accompanied by recurrent episodes of transaminitis.