Aicardi-Goutieres syndrome is a rare, usually early-onset childhood inflammatory disorder that most typically affects the brain and the skin, mimicking a congenital infection and sharing features with systemic lupus erythematosus. It arises from mutations in any of nine identified genes, including TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1 and IFIH1, which disrupt nucleic acid metabolism and DNA repair and trigger an inappropriate immune response. Affected children commonly show spasticity, chilblains, an abnormally small head, intellectual disability, low muscle tone in the torso and progressive neurological decline, often with cerebral calcifications, white matter abnormalities and seizures visible on brain imaging. The syndrome occurs in all populations worldwide but remains underdiagnosed; first described in 1984, at least 400 cases had been documented by 2014, and severity varies considerably, even between siblings carrying the same mutation.
Facts
Classification
Body SystemLymphatic or Immune System 1 ICD-10 ChapterVI: Diseases of the Nervous System 2 Communicable or Non-communicable Transmission Route Causative Agent
Causative Agent (category) First Described Sources
1. MedlinePlus Genetics, National Library of Medicine: Aicardi-Goutières syndrome
MedlinePlus Genetics, National Library of MedicineGenetics page - communicable-or-non-communicable
In most cases, it is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell must have a variant to cause the disorder.
Genetics page - transmission-route
In most cases, it is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell must have a variant to cause the disorder.
Description: brain
Aicardi-Goutières syndrome is a disorder with variable signs and symptoms, but it primarily affects the brain, the immune system, and the skin.
Description: immune system
Aicardi-Goutières syndrome is a disorder with variable signs and symptoms, but it primarily affects the brain, the immune system, and the skin.
Description: skin
Aicardi-Goutières syndrome is a disorder with variable signs and symptoms, but it primarily affects the brain, the immune system, and the skin.
View the Source 2. World Health Organization: ICD-10 Version:2019, Chapter VI, G30-G32
World Health OrganizationCategory G31.8Quote, Category G31.8
G31.8 Other specified degenerative diseases of nervous
3. Aicardi-Goutieres Syndrome (Wikipedia)
Article text
AGS can occur due to mutations in any one of a number of different genes, of which nine have been identified to date, namely: TREX1, RNASEH2A, RNASEH2B, RNASEH2C (which together encode the ribonuclease H2 enzyme complex), SAMHD1, ADAR1, and IFIH1 (coding for MDA5).
History section
In 1984, Jean Aicardi and Francoise Goutières described eight children from five families presenting with a severe early onset encephalopathy, which was characterized by calcification of the basal ganglia, abnormalities of the cerebral white matter and diffuse brain atrophy.
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