AGS

AGS or Aicardi-Goutières syndrome is a rare, genetic disorder that primarily affects the brain, immune system and the skin. It is named after the French pediatricians, Jean Aicardi and Francoise Goutières who first described it in 1984.

Etymology

The term Aicardi-Goutières syndrome is derived from the names of the French pediatricians, Jean Aicardi and Francoise Goutières, who first described the condition in 1984.

Symptoms

The symptoms of AGS typically appear in infancy and may include severe intellectual disability, seizures, problems with movement and balance, and areas of abnormal skin coloring. Some affected individuals have an extreme immune response known as a "cytokine storm" that can cause fever, liver damage, and other serious complications.

Causes

AGS is caused by mutations in any of several genes, including TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. These genes are involved in the body's immune response and the repair of damaged DNA.

Diagnosis

Diagnosis of AGS is based on clinical features, brain imaging, and genetic testing. The presence of white matter abnormalities on brain MRI, along with increased levels of interferon-alpha in the cerebrospinal fluid, are suggestive of the condition.

Treatment

There is currently no cure for AGS. Treatment is supportive and aims to manage symptoms and improve quality of life. This may include physical therapy, medications to control seizures, and regular monitoring of organ function.

Prognosis

The prognosis for individuals with AGS varies. Some individuals have a severe form of the disease and may not survive past infancy, while others have a milder form and may live into adulthood.

See also

• Genetic disorder
• Pediatrics
• Neurology

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