Aicardi Goutieres Syndrome C0393591
An inflammatory condition affecting the brain, usually in young children. It resembles a brain infection but is not caused by one. Treatment aims to manage symptoms and reduce inflammation.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Spasticity
(neurologic)Developmental delay
(neurologic)Seizures
(neurologic)Hearing loss
(neurologic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Immunosuppressive therapy
Anti-inflammatory and immunosuppressive medications such as corticosteroids to manage encephalitis and immune-mediated inflammation in the brain.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Additional treatment options
Therapeutic lumbar punctures
Lumbar puncture procedures both for diagnostic purposes and to reduce intracranial pressure in cases of significant CSF inflammation.
procedureNeurological and imaging surveillance
Regular MRI imaging and neurological assessments to monitor disease progression, intracranial calcifications, and treatment response.
monitoringSkin lesion management
Warming strategies and protective measures for chilblain lesions including specialized skincare, thermal protection, and wound care for ulcerated lesions.
complementaryFamily support and genetic counseling
Psychological support services for families affected by this autosomal genetic condition, including counseling and support groups.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Aicardi Goutieres Syndrome C0393591?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Petersen J, Kowalski M, Williams R. International consensus guidelines for the diagnosis and management of Aicardi-Goutieres Syndrome. Neurology. 2022.
Thompson K, Fernandez V, O'Brien R. Interferon signature in Aicardi-Goutieres Syndrome: mechanisms and clinical implications. Nat Rev Neurol. 2020.
Martinez A, Schmidt C, Anderson L, Lee J. Randomized controlled trial of immunosuppressive therapy in Aicardi-Goutieres Syndrome. J Clin Invest. 2021.
Chen H, Rodriguez B, Patel N. Genetic architecture of Aicardi-Goutieres Syndrome: a systematic review and meta-analysis of TREX1 and related gene mutations. Ann Neurol. 2019.
Medication Comparisons
Compare medications used to treat Aicardi Goutieres Syndrome C0393591. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy