{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T09:40:05Z","timestamp":1756374005271,"version":"3.44.0"},"reference-count":7,"publisher":"BMJ","issue":"3","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2023,3,5]]},"published-print":{"date-parts":[[2023,3]]},"abstract":"<jats:p>Aicardi-Gouti\u00e8res 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 (<jats:italic>Adar<\/jats:italic>) enzyme have been linked to AGS type 6 (AGS6, Online Mendelian Inheritance in Man (OMIM) 615010). In knockout mouse models, loss of <jats:italic>Adar<\/jats:italic> 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 <jats:italic>Adar<\/jats:italic>. 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 <jats:italic>Adar<\/jats:italic> in protecting the brain and liver from IFN-induced inflammation. <jats:italic>Adar<\/jats:italic>-related disease should therefore be considered in the differential diagnosis of BSN accompanied by recurrent episodes of transaminitis.<\/jats:p>","DOI":"10.1136\/bcr-2022-252436","type":"journal-article","created":{"date-parts":[[2023,3,13]],"date-time":"2023-03-13T10:55:28Z","timestamp":1678704928000},"page":"e252436","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["<i>Adar<\/i>-associated Aicardi Gouti\u00e8res syndrome in a child with bilateral striatal necrosis and recurrent episodes of transaminitis"],"prefix":"10.1136","volume":"16","author":[{"given":"Ronald","family":"van Toorn","sequence":"first","affiliation":[{"name":"Paediatrics and Child Health, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Magriet van","family":"Niekerk","sequence":"additional","affiliation":[{"name":"Paediatrics and Child Health, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4463-3067","authenticated-orcid":false,"given":"Shahida","family":"Moosa","sequence":"additional","affiliation":[{"name":"Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1146-1307","authenticated-orcid":false,"given":"Pierre","family":"Goussard","sequence":"additional","affiliation":[{"name":"Paediatrics and Child Health, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5607-8443","authenticated-orcid":false,"given":"Regan","family":"Solomons","sequence":"additional","affiliation":[{"name":"Paediatrics and Child Health, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2023,3,13]]},"reference":[{"key":"2025082802134586000_16.3.e252436.1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0036-1592307"},{"key":"2025082802134586000_16.3.e252436.2","doi-asserted-by":"crossref","DOI":"10.1002\/wrna.1665","article-title":"The role of RNA editing enzyme ADAR1 in human disease","volume":"13","author":"Song","year":"2022","journal-title":"Wiley Interdiscip Rev RNA"},{"key":"2025082802134586000_16.3.e252436.3","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajpath.2015.08.002"},{"key":"2025082802134586000_16.3.e252436.4","doi-asserted-by":"crossref","unstructured":"Liu L , Zhang L , Huang P , et al . Case report: aicardi-gouti\u00e8res syndrome type 6 and dyschromatosis symmetrica hereditaria with congenital heart disease and mitral valve calcification-phenotypic variants caused by adenosine deaminase acting on the RNA 1 gene homozygous mutations. Front Pediatr 2022;10. doi:10.3389\/fped.2022.852903","DOI":"10.3389\/fped.2022.852903"},{"key":"2025082802134586000_16.3.e252436.5","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2013-102038"},{"key":"2025082802134586000_16.3.e252436.6","doi-asserted-by":"crossref","DOI":"10.1186\/1471-2350-15-69","article-title":"Five novel mutations in the ADAR1 gene associated with dyschromatosis symmetrica hereditaria","volume":"15","author":"Liu","year":"2014","journal-title":"BMC Med Genet"},{"key":"2025082802134586000_16.3.e252436.7","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2414"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2022-252436","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T09:13:53Z","timestamp":1756372433000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2022-252436"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,3]]},"references-count":7,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2023,3,13]]},"published-print":{"date-parts":[[2023,3]]}},"alternative-id":["10.1136\/bcr-2022-252436"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2022-252436","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2023,3]]}}}