Aicardi-Goutières syndrome (AGS)

What happens in this disease?

The cells cannot clear away pieces of DNA and RNA that are no longer useful. The body mistakes them for viruses. The immune system works when it does not need to, and substances called interferons increase. This inflammation damages the brain, the skin and other organs.

Which symptoms can occur?

In the early type, symptoms begin in the first months. In the late type, the baby first develops normally, and symptoms appear after the age of one.

• Extreme irritability and feeding difficulties
• Loss of skills already gained
• Recurring fever without infection
• Seizures, also called fits (sometimes)
• Slowed growth of the head
• Muscle stiffness, involuntary muscle contractions or floppy muscles
• Red, itchy swellings on the fingers, nose and ears that get worse in the cold (about 40% in the early type)
• Raised eye pressure and vision problems (sometimes)

How is it diagnosed?

A brain CT scan shows calcium deposits, and an MRI shows changes in the white matter. White blood cells and interferon may be increased in the cerebrospinal fluid. The diagnosis is confirmed with a genetic test.

Treatment and care

There is not yet a treatment that fully cures the disease. Many specialists work together on care. This includes nutritional support, chest physiotherapy and treatment of seizures. Medicines that suppress the immune response are being researched. The eyes, thyroid and spine are checked regularly. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

It is usually passed on through recessive inheritance. For a couple who are both carriers, the chance of having an affected child is 1 in 4 in each pregnancy. Recessive diseases can be more common when relatives marry each other. With some genes, dominant inheritance or a new gene change is also seen. Genetic counselling clarifies the family's risk.