Aicardi Goutieres Syndrome 4 C1835912
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 motor decline
Dystonia
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Global developmental delay
(neurologic)Recurrent skin rash
(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
Immunomodulatory treatment
Use of immunomodulatory agents to address the autoimmune-like manifestations and reduce the type I interferon signature observed in patients with RNASEH2B mutations.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Multidisciplinary surveillance
Coordinated care involving neurology, immunology, and developmental specialists to comprehensively manage the multisystem manifestations of the condition.
Additional treatment options
Pain management
Multimodal approach to managing chronic pain associated with neurological manifestations, including neuropathic pain agents when appropriate.
medicationshunt placement for hydrocephalus
Surgical intervention to manage communicating hydrocephalus when present, typically requiring ventricular shunt placement to normalize intracranial pressure.
surgicalEnvironmental modification
Adaptation of home and school environments to accommodate motor and cognitive limitations, including assistive devices, modified furniture, and safety modifications.
lifestyleWhen 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 4 C1835912?
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, Chase DS, Schmidt JL. Consensus recommendations for the management of Aicardi-Goutières syndrome. Neurology. 2022.
Orcesi S, Poirier K, La Piana R. Aicardi-Goutières syndrome: expanding the genotype-phenotype spectrum. Ann Neurol. 2021.
Ramantani G, Hausler M, Nigro F. Interferon pathway activation in Aicardi-Goutières syndrome: clinical manifestations and therapeutic implications. Brain. 2020.
Takanashi J, Okumura A, Kubota M. Update on the molecular basis and clinical features of Aicardi-Goutières syndrome. Dev Med Child Neurol. 2023.
Medication Comparisons
Compare medications used to treat Aicardi Goutieres Syndrome 4 C1835912. 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