A rare hereditary encephalopathy: Aicardi-Goutières Syndrome | Su una rara encefalopatia ereditaria: La Sindrome di Aicardi-Goutières

Aicardi-Goutières Syndrome (AGS) is a rare hereditary encephalopathy, with clinical onset within infancy. The disease is mainly characterized by basal ganglia calcifications, white matter anomalies, cerebral fluid pleiocytosis and high levels of interferon-a in serum and CSF. The clinical course is severe and progressive with exitus before 18 years of age. The AA report on the first case of AGS described in the Italian literature.