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5 Facts you should know about

Aicardi Gouteres syndrome

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1

Aicardi-Goutieres syndrome is

a mostly inherited disease that primarily affects the brain, immune system, and the skin.

2

First described by Jean Aicardi and Francoise Goutières

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

3

Loss of white matter and abnormal deposits of calcium in the brain

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

4

Most AGS cases present in early infancy

The majority of AGS cases present in early infancy, sometimes after an apparently normal period of development.

5

40% of patients develop chilblain lesions

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

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