GTR Home > Conditions/Phenotypes > Aicardi Goutieres syndrome 1

Disease characteristics

Excerpted from the GeneReview: Aicardi-Goutières Syndrome
Most characteristically, Aicardi-Goutières syndrome (AGS) manifests as an early-onset encephalopathy that usually, but not always, results in severe intellectual and physical handicap. A subgroup of infants with AGS present at birth with abnormal neurologic findings, hepatosplenomegaly, elevated liver enzymes, and thrombocytopenia, a picture highly suggestive of congenital infection. Otherwise, most affected infants present at variable times after the first few weeks of life, frequently after a period of apparently normal development. Typically, they demonstrate the subacute onset of a severe encephalopathy characterized by extreme irritability, intermittent sterile pyrexias, loss of skills, and slowing of head growth. Over time, as many as 40% develop chilblain skin lesions on the fingers, toes, and ears. It is becoming apparent that atypical, sometimes milder, cases of AGS exist, and thus the true extent of the phenotype associated with mutation of the AGS-related genes is not yet known. For example, mutation of ADAR has recently been associated with a clinical presentation of acute bilateral striatal necrosis.

Available tests

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Associated genes

Clinical features

  • Fever
  • Intellectual disability, profound
  • Purpura
  • Splenomegaly
  • Strabismus
  • Thrombocytopenia
  • Poor head control
  • Progressive encephalopathy
  • Deep white matter hypodensities
  • Increased CSF interferon alpha
  • Seizure
  • Nystagmus
  • Feeding difficulties in infancy
  • Progressive microcephaly
  • Petechiae
  • Acrocyanosis
  • Spasticity
  • Global developmental delay
  • Dystonia
  • Hepatosplenomegaly
  • Cerebral atrophy
  • Morphological abnormality of the pyramidal tract
  • Abnormality of extrapyramidal motor function
  • Basal ganglia calcification
  • Hepatomegaly
  • Leukoencephalopathy
  • Elevated hepatic transaminases
  • Multiple gastric polyps
  • Prolonged neonatal jaundice
  • Muscular hypotonia of the trunk
  • Chronic CSF lymphocytosis
  • Chilblain lesions
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