Aicardi-Goutieres syndrome

Aicardi-Goutières syndrome (AGS)—also known as pseudotoxoplasmosis syndrome, encephalopathy with basal ganglia calcification, or Cree encephalitis—is a rare inherited disease that mainly affects the brain, immune system, and the skin. This disease affects the white matter in the brain (made up of nerve fibers coated in myelin, which protects the nerves) leading to mild to severe intellectual or physical impairments in most children.

AGS is caused by a mutation in one or more of a small group of specific genes. This mutation leads to a buildup of calcium in the brain, which is thought to trigger the immune response that causes symptoms of AGS.

There are two forms of AGS: an early-onset form and a later-onset form. Early-onset AGS occurs at birth and is the more serious form of the syndrome, often leading to permanent damage of brain functions and severe lifelong impairments. Later-onset AGS occurs within the first few weeks or months of infancy. Symptoms of later-onset AGS may lessen and stabilize but may leave persistent neurologic difficulties. Symptoms for both forms begin in infancy but at different times.

Early-onset AGS signs and symptoms include:

• Jittery behavior
• Poor feeding ability from birth
• Neurological and liver abnormalities at birth
• Smaller head size (microcephaly)
• Liver inflammation
• Seizures
• Skin rashes

Later-onset AGS signs and symptoms include:

• Weak or stiffened muscles (spasticity)
• Irritability or inconsolable crying
• Intermittent, unexplained fever
• A decline in head growth
• Developmental delays
• Seizures
• Skin problems known as chilblains (rash, lesions, or swelling on fingers, toes, and ears that worsen in cold temperatures)

Children with AGS should be monitored for:

• Evidence of glaucoma in the first few months of life
• Scoliosis
• Diabetes
• Underactive thyroid
• Problems with the heart, lungs, and blood vessels and platelets

There is no known cure for AGS, but treatment is available to manage symptoms and to help keep children comfortable. Some children may need chest physiotherapy for respiratory complication. Children who need support with feeding may require a special diet. Seizures may be managed with medications.

AGS is distinct from the similarly named Aicardi syndrome [characterized by absence of a brain structure (corpus callosum), and spinal, skeletal, and eye abnormalities].

How can I or my loved one help improve care for people with Aicardi-Goutières syndrome?

Consider participating in a clinical trial so clinicians and scientists can learn more about AGS and related disorders. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.

All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.

For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with AGS at Clinicaltrials.gov.

Where can I find more information about Aicardi-Goutières syndrome?

Information is available from the following resources:

Child Neurology Foundation
Phone: 612-928-6325

MedlinePlus

PubMed

National Institute of Neurological Disorders and Stroke. NINDS Aicardi-Goutieres Syndrome Information Page. Available at: https://www.ninds.nih.gov/health-information/disorders/aicardi-goutieres-syndrome. Accessed July 7, 2023.

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