Aicardi-Goutières syndrome
ORPHA:51· ICD-10 G31.8
Definition
A rare inherited subacute encephalopathy characterized by the variable association of basal ganglia calcification, leukodystrophy, cerebrospinal fluid (CSF) lymphocytosis and evidence of enhanced type I interferon signaling in blood and CSF.
- Prevalence
- Unknown
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal