Aicardi Goutieres Syndrome 8 C5551352
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
Encephalopathy
Motor developmental delay
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intracranial calcifications
(neurologic)Thyroid dysfunction
(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
Janus Kinase Inhibitors
JAK inhibitor therapy to block inflammatory signaling pathways implicated in the disease pathophysiology and reduce neuroinflammation.
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Therapeutic Plasma Exchange
Apheresis procedure to remove pathogenic autoantibodies and immune complexes from circulation in acute inflammatory phases.
Additional treatment options
Early Intervention Program
Intensive early childhood intervention combining physical, occupational, and speech therapies to maximize developmental potential.
physical_therapyOphthalmologic Surveillance
Regular eye examinations to monitor for retinal vasculopathy, optic nerve involvement, and visual acuity changes.
monitoringOmega-3 Fatty Acid Supplementation
Dietary supplementation with omega-3 fatty acids to potentially support neuroprotection and modulate inflammatory responses.
complementaryWhen 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 8 C5551352?
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.
Crow YJ, Livingston JH. Aicardi-Goutieres syndrome: an important mendelian mimic of congenital infection and SLE. Nat Rev Neurol. 2018.
Orcesi S, La Piana R, Fazzi E. Italian recommendations for the diagnosis and management of Aicardi-Goutieres syndrome. Ital J Pediatr. 2020.
Ramantani G, Kohlhase J, Bolz HJ, et al. Expanding the phenotypic spectrum of IFIH1-associated Aicardi-Goutieres syndrome. Neurology. 2019.
Adang LA, Frank DB, Gilani A, et al. Aicardi-Goutieres syndrome: CNS involvement in adulthood. Neurology. 2021.
Medication Comparisons
Compare medications used to treat Aicardi Goutieres Syndrome 8 C5551352. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy