What is Aicardi-Goutières syndrome? Aicardi-Goutières syndrome (AGS) is an inherited condition that affects the brain, immune system, and skin. It is caused by harmful genetic changes (variants) in the RNASEH2B gene. Early onset brain disease (encephalopathy) is a common feature that often causes intellectual and developmental disability. Other symptoms of the condition typically present within the first few weeks of life and can include a small head size (microcephaly), neurologic problems, enlarged liver and spleen (hepatosplenomegaly), fevers (sterile pyrexias), and a shortage of blood cells called platelets (thrombocytopenia). Some individuals will develop painful, itchy skin lesions, called chilblains, on the fingers, toes, and ears. How common is Aicardi-Goutières syndrome? The exact incidence of Aicardi-Goutières syndrome is unknown. Approximately 120 individuals have been diagnosed worldwide. How is Aicardi-Goutières syndrome treated? There is no cure for Aicardi-Goutières syndrome. Treatment for the condition is directed at managing an individual's specific symptoms. Individuals diagnosed with Aicardi-Goutières syndrome will often benefit from receiving early intervention and other supportive services beginning at a young age. Common interventions may include treating breathing problems, managing feeding problems by focusing on diet to ensure adequate caloric intake and managing seizures. This often means receiving care through a team of specialists, including physicians, speech therapists, occupational therapists, physical therapists, and social workers. What is the prognosis for an individual with Aicardi-Goutières syndrome? Infants who experience brain disease (encephalopathy) often have severe intellectual and physical disabilities. Approximately 80% of individuals with the severe form will die within the first ten years of life; however, longer survival has been reported in individuals affected with milder and later-onset forms. Other names forAicardi-Goutières syndrome Cree encephalitis Encephalopathy with basal ganglia calcification Familial infantile encephalopathy with intracranial calcification and chronic cerebrospinal fluid lymphocytosis Pseudotoxoplasmosis syndrome References Adang et al., 2020, J Child Neurol., 35(1):7-16, PMID: 31559893 GeneReviews: Crow et al., 2016, https://www.ncbi.nlm.nih.gov/books/NBK1475/ Gregg et al., 2021, Genet Med., 23(10):1793-1806, PMID: 34285390 OMIM: Online Mendelian Inheritance in Man, OMIM [610326], 2019, https://www.omim.org/entry/610326