What is Aicardi-Goutieres syndrome?

Aicardi-Goutieres syndrome is a rare type of leukodystrophy. Leukodystrophies are rare genetic disorders affecting myelin or the white matter of brain, spinal cord, and nerves. It leads to autoimmune type of inflammation due to abnormal genes associated with DNA and RNA processing. Many different genes are identified, and it is an autosomal recessive disorder. It is also known as psedudotoxoplasmosis syndrome, encephalopathy with basal ganglia calcification, or Cree encephalitis.

 

What are clinical features of Aicardi-Goutieres syndrome?

. Unexplained fever

. Inconsolable crying

. Skin problems

. Muscle weakness

. Microcephaly

. Seizures

. Developmental delays

. Immune dysfunction

. Glaucoma

. Cardiomyopathy

. Pulmonary hypertension

. Blood dyscrasia

. Scoliosis

 

It affects the brain, skin, and the immune system.

Are there different types of Aicardi-Goutieres syndrome?

 

There is an early onset type or onset at birth. Late onset type appears weeks to month after birth.

How is Aicardi-Goutieres syndrome diagnosed?

. MRI brain revealing brain calcification and atrophy

. CSF analysis, revealing increased immune activity, may be supportive

. Genetic testing

 

What is the prognosis for Aicardi-Goutieres syndrome?

If the child survives first few years, median survival is 30 years.

 

Is there a treatment for Aicardi-Goutieres syndrome?

There is no cure, but symptoms can be treated.

 

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

American Academy of Neurology

American Academy of Pediatric Neurology Section

United Leukodystrophy Foundation

National Organization for Rare Disorders

Genetic and Rare Diseases Information Center