Aicardi-Goutieres syndrome 9

Aicardi-Goutieres syndrome 9 is a rare type I interferonopathy that affects the brain and other organs. It is marked by severe developmental delay and progressive neurological deterioration. People affected by this condition often experience significant challenges from infancy, with symptoms such as irritability and spasticity. Brain imaging in cases of this condition typically shows diffuse abnormalities in the white matter, cerebral atrophy, and intracranial calcification. In some cases, complications affecting the kidneys and liver have led to premature death, highlighting the overall severity of this condition.

Common symptoms include severe developmental delays, irritability, and spasticity seen during infancy. Brain scans may reveal abnormal white matter patterns, cerebral atrophy, and intracranial calcification, which are linked to progressive neurologic deterioration.

Aicardi-Goutieres syndrome 9 is linked to genetic causes, with mutations in the RNU7-1 gene being associated with the condition. The underlying genetic changes lead to abnormalities in type I interferon regulation, contributing to the severe developmental and neurological features observed.

Information about treatment is currently limited for this condition.

The outlook for people with Aicardi-Goutieres syndrome 9 can be challenging. The condition is associated with progressive neurological decline and may lead to serious complications, including failures in kidney and liver functions, which have been linked to premature death.

Information about current research is currently limited for this condition.