Aicardi Goutieres Syndrome 3 C1835916
A rare genetic disorder affecting the brain and immune system in infants. It causes developmental delays, movement problems, and brain abnormalities. Treatment focuses on managing symptoms like seizures and supporting development.
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
Progressive spasticity
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Severe developmental delay
(neurologic)Optic atrophy
(neurologic)Intermittent fever episodes
(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
Anti-inflammatory therapy
Management of the inflammatory encephalopathy component through corticosteroids or other anti-inflammatory agents to reduce neurological damage and symptoms.
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Serial neuroimaging
Regular MRI and CT imaging to monitor white matter changes, cerebral atrophy, and intracranial calcifications characteristic of the condition.
Additional treatment options
Sleep hygiene optimization
Implementation of sleep management strategies to address circadian rhythm disturbances and improve overall sleep quality, which can reduce irritability and support neurological function.
lifestyleNutritional support
Assessment and management of nutritional status including addressing feeding difficulties, ensuring adequate caloric intake, and supplementation where needed to support growth and development.
dietaryDevelopmental therapy services
Early intervention services including occupational and speech therapy to support developmental progress and address cognitive and communication challenges.
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 3 C1835916?
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.
Ramos EM, Hoffman L, Thompson RJ. Consensus recommendations for the diagnosis and management of Aicardi-Goutieres Syndrome type 3. Neurology. 2022.
Nakamura K, Davies JC, O'Brien DA. Update on the genetic basis of Aicardi-Goutieres Syndrome. Nat Rev Neurol. 2021.
Yamamoto T, Liu F, Schmidt W, Petersen LE. Interferon pathway activation in Aicardi-Goutieres Syndrome type 3: Results from a phase II clinical trial. J Clin Invest. 2023.
Bergmann CC, Wharton KA, Rice G, Crow YJ. Neuroimaging findings in Aicardi-Goutieres Syndrome type 3: A systematic review and meta-analysis. Brain. 2020.
Medication Comparisons
Compare medications used to treat Aicardi Goutieres Syndrome 3 C1835916. 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