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5 Facts you should know about

Aicardi Goutères syndrome



Aicardi-Goutières syndrome is a mostly inherited disease that primarily affects the brain, immune system, and skin


It was first described in 1984 by Jean Aicardi and Francoise Goutières, after they found 8 children from 5 families presenting with a severe early onset encephalopathy


Loss of white matter in the brain and abnormal deposits of calcium in the brain leads to an early-onset severe brain dysfunction that usually results in severe intellectual and physical disability


Most Aicardi-Goutières syndrome cases present in early infancy, sometimes after an apparently normal period of development


Up to 40% of patients develop chilblain lesions, most typically on the toes and fingers

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