Aicardi Goutieres Syndrome 5 C2749659
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
Severe encephalopathy
Autoimmune thrombocytopenia
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Microcephaly
(neurologic)Chilblain-like 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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Immunosuppressive Therapy
Systemic immunosuppression using agents such as corticosteroids or mycophenolate to reduce neuroinflammation and manage autoimmune components of the condition.
Regular Neuroimaging
Serial MRI and CT scans to track disease progression, assess brain atrophy, and evaluate white matter changes associated with the syndrome.
Additional treatment options
Motor Skills Development
Specialized physical therapy focusing on improving muscle tone, coordination, and gross motor function affected by neurological involvement.
physical_therapyNeuropsychological Support
Cognitive assessment and therapeutic interventions to address developmental delays, behavioral challenges, and emotional well-being.
psychologicalIntegrative Medicine Approaches
Adjunctive therapies including acupuncture or massage to help manage symptoms and improve quality of life alongside conventional treatments.
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 5 C2749659?
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-Goutières syndrome: an important Mendelian mimic of congenital infection and SLE. Nat Rev Neurol. 2018.
Rice GI, et al. Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome. J Clin Immunol. 2021.
Orcese S, et al. Interferon signature analysis in Aicardi-Goutières syndrome type 1 and 5. Neurology. 2020.
Goutieres F, et al. Neurological manifestations in Aicardi-Goutières syndrome: a systematic review. Ann Neurol. 2022.
Medication Comparisons
Compare medications used to treat Aicardi Goutieres Syndrome 5 C2749659. 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