Aicardi-Goutières syndrome

Aicardi-Goutières syndrome is a familial progressive early onset encephalopathy with basal ganglia calcifications, chronic CSF lymphocytosis and high level of interferon-α in CSF. Cutaneous necrotic lesions and the neuropathological aspect of microangiopathy and microinfarctions suggest a vascular process in relation to elevated interferon-α. A genetic defect in the regulation of its synthesis may be the causal factor of the disorder.