Aicardi-Goutières-Syndrome with muscle involvement in early infancy.

Aicardi-Goutières-syndrome (AGS) comprises a group of monogenetic disorders characterized by aberrant immune activation (1). The spectrum of neurological features includes acquired microcephaly with cerebral atrophy, basal ganglia calcification, leukodystrophy, chronic cerebrospinal lymphocytosis, and/or elevated concentration of type I interferons (IFNs) resulting in high morbidity and mortality (2). AGS can be caused by mutations in several genes involved in sensing or modifying nucleic acids. This elevates the α-interferon response and activates the innate and adaptive immune system. Presently, no effective therapy is available. However, to shorten the families' diagnostic Odyssey and to allow genetic counselling and parental diagnostics, early molecular diagnosis should be achieved. This article is protected by copyright. All rights reserved.