Abstract

AYALA, Zoilo Morel; GLIZT, Romina  and  FLORENTIN, Cynthia. Aicardi-Goutieres Syndrome: Genetic diagnosis in a nursing infant. Rev. Inst. Med. Trop. [online]. 2023, vol.18, n.1, pp.81-85. ISSN 1996-3696.  https://doi.org/10.18004/imt/2023.18.1.10.

Aicardi-Goutieres Syndrome (AGS) is characterized by an early-onset, progressive, genetic encephalopathy associated with an inflammatory process. In addition to the CNS, it can affect the skin, with chilblain-like eruptions, and present with microcephaly, short stature, liver dysfunction, thyroid dysfunction, elevated acute phase reactants, positive autoimmune antibodies, and associations for autoimmune systemic diseases such as SLE. SAG presents heterogeneous loci, with mutations identified in the genes encoding the TREX1 3'→5' exonuclease and the three subunits of the RNASEH2 endonuclease complex. We present the case of a female 2-year-old patient, with delayed psychomotor development, without other systemic manifestations, diagnosed as SAG, with variant c.529G>A (p.Ala177Thr) with a pathogenic effect in homozygosis in the RNASEH2B gene.

Keywords : Aicardi-Goutieres syndrome; interferonopathies; RNASEH2B gene; leukoencephalopathies.

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