| Abstract [eng] |
Aicardi-Goutières syndrome is a rare, genetic, progressive neurodegenerative autoinflammatory disorder, caused by dysfunctional interferon synthesis and characterised by systemic inflammation as well as heterogeneous neurological damage. The current aetiopathogenesis of this syndrome is based on mutations in recently discovered 9 genes (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, IFIH1, LSM11, and RNU7-1), thus dividing it into 9 different types, each presenting a distinct clinical phenotype. Although the clinical picture is diverse, the main symptomatology is neurological, resulting from the changes in the white matter as well as the basal ganglia. Two clinical cases of Aicardi- Goutières syndrome type 7 are presented here. Conclusions: According to the scientific literature and the cases studied, this is a rare genetic syndrome, the diagnosis of which is complicated by clinical heterogeneity and similarity with other interferonopathies, leukodystrophies or congenital infections. At the moment there is not one single standardized mode of treatment of this disorder, it is individualised to each patient. There is also a critical need for further research on this topic. |
