Aicardi-Goutières syndrome : AA rare genetic disorder mimicking intrauterine viral infections [Aicardi-Goutières-Syndrom : Seltene genetische Erkrankung imitiert intrauterine Virusinfektion]

Aicardi-Goutières syndrome (AGS) is a rare severe progressive encephalopathy which starts in early infancy. Hallmarks include calcifications of the basal ganglia, chronic lymphopleocytosis and abnormal interferon-α elevations in cerebrospinal fluid (CSF). The disorder mimicks intrauterine infections, but is a genetic disorder, mostly inherited by an autosomal recessive trait with a variable genetic and clinical spectrum. In clinical and laboratory presentation, there is an overlap to infantile systemic lupus erythematosus. Four different genes have been identified to date, others are assumed. They code for nucleases, which are involved in cellular repair mechanisms by cleaving RNA-DNA particles. Mutations cause, via enzyme inactivation, a chronic overstimulation of the innate immune system, leading to increased CSF interferon-α production. Prenatal diagnosis is available for known mutations. © 2008 Springer Medizin Verlag.