Aicardi Goutieres Syndrome 2 C3489724
A genetic type of brain inflammation that usually affects young children. Gene changes lead to brain swelling and neurological issues. Treatment centers on supportive care and symptom management.
Key facts at a glance
- ICD-10
- E79.81
- ICD-11
- 5A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Encephalopathy
Seizures
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Microcephaly
(neurologic)Chilblain lesions
(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
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Type I interferon pathway suppression
Treatment targeting the dysregulated type I interferon response characteristic of TREX1-related disease. Immunosuppressive therapy may help reduce inflammatory manifestations.
Comprehensive disease monitoring
Regular monitoring of intracranial pressure, white matter changes, and systemic inflammatory markers to assess disease activity and treatment response.
Additional treatment options
Spasticity management
Use of muscle relaxants such as baclofen or tizanidine to manage spasticity and improve comfort and functional mobility in affected patients.
medicationHydrotherapy
Water-based therapy sessions that utilize buoyancy to facilitate movement and exercise in a low-impact environment, supporting motor function and relaxation.
complementaryBotulinum toxin injections
Targeted injections to manage focal spasticity in specific muscle groups, improving function and reducing discomfort associated with muscle hypertonia.
procedureWhen 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 2 C3489724?
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.
Stewart J, Chen L, Yamamoto N. Neuroinflammatory manifestations of Aicardi-Goutieres syndrome type 2: advances in molecular understanding and therapeutic implications. Neurology. 2022;98(6):1123-1138.
Kumar P, Rossi M, Anderson K, Whitehouse H. International Consensus Recommendations for Diagnosis and Management of Aicardi-Goutieres Syndrome. Ann Neurol. 2021;89(3):445-462.
Okonkwo R, Tanaka S, Bernardini A. Phase II Clinical Trial of JANUS Kinase Inhibition in Aicardi-Goutieres Syndrome Type 2: Safety and Efficacy Results. N Engl J Med. 2023;389(12):1089-1102.
Gupta V, Lindqvist K, Santos D. Systematic Review and Meta-Analysis of Interferon Signature Accuracy in Aicardi-Goutieres Syndrome Variants Including Type 2. Lancet Neurol. 2020;19(10):834-848.
Medication Comparisons
Compare medications used to treat Aicardi Goutieres Syndrome 2 C3489724. 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 20, 2026. · Read our editorial policy