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Aicardi-Goutières syndrome
Other Resources UpToDate PubMed

Aicardi-Goutières syndrome

Contributors: Andrea Wasilewski MD, Richard L. Barbano MD, PhD
Other Resources UpToDate PubMed

Synopsis

Aicardi-Goutières syndrome (AGS) is a family of genetic conditions, most often inherited in an autosomal recessive fashion, known as interferonopathies. AGS occurs due to a failure to degrade RNA or DNA, resulting in accumulation of nucleic acid proteins that cause an inflammatory cascade.

Patients often present early in life but can present in a delayed fashion with fevers, vasculopathy, chilblain skin lesions, impaired immune function, bone abnormalities, and symptoms of central nervous system inflammation. Most patients will present within the first few weeks of life after a brief period of normal development. Children most commonly present with early onset encephalopathy with significant physical and intellectual disability. Neurologic presentation may also include seizures, irritability, cognitive impairment, deceleration of head growth, and basal ganglia calcifications.

Multiple genetic causes have been identified. The condition can be fatal or may result in a persistent vegetative state.

Codes

ICD10CM:
G31.89 – Other specified degenerative diseases of nervous system

SNOMEDCT:
230312006 – Aicardi Goutieres syndrome

Look For

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

  • Congenital infections
  • Band-like calcification polymicrogyria
  • Microcephaly-intracranial calcification syndrome
  • Cockayne syndrome
  • Neonatal lupus erythematosus
  • Leigh syndrome
  • Familial mitochondrial encephalopathy
  • 3-hydroxyisobutyric aciduria
  • Leukoencephalopathy, brain calcifications, and cysts (Labrune syndrome)
  • Pelizaeus-Merzbacher disease
  • Alexander disease
  • Childhood ataxia with central nervous system hypomyelination / vanishing white matter disease
  • Hoyeraal-Hreidarsson syndrome

Best Tests

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Management Pearls

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Therapy

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References

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Last Reviewed:05/20/2021
Last Updated:05/26/2021
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Aicardi-Goutières syndrome
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Aicardi-Goutières syndrome
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