Aicardi-Goutières syndrome (AGS) is a condition that affects the brain, immune system, and skin.
One of the main signs of AGS is early brain disease (encephalopathy), which often leads to intellectual and developmental disabilities. Other symptoms usually show up within the first few weeks of life and can include a small head size (microcephaly), neurological issues, an enlarged liver and spleen (hepatosplenomegaly), fevers without infection (sterile pyrexias), and a low number of platelets in the blood (thrombocytopenia). Some people with AGS may also develop painful, itchy skin lesions called chilblains on their fingers, toes, and ears.
There is no cure for AGS, so treatment focuses on managing the symptoms. Early intervention and supportive services can be very helpful. Treatment may involve addressing breathing issues, ensuring proper nutrition to manage feeding problems, and controlling seizures.
AGS is caused by pathogenic (disease-causing) variants in the RNASEH2B gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance of having a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background.
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Written August 2024
