Aicardi-Goutières syndrome: The need for clinical vigilance in fetuses with sonographic features of congenital infection

Published:January 10, 2023DOI:
      Aicardi-Goutières syndrome (AGS) is a genetic disorder that mainly affects the brain, immune system and skin. Most affected newborns show no signs or symptoms. Within the first year of life, patients will develop an episode of severe brain dysfunction (encephalopathy) that is usually severe. We here describe a case of AGS mimicking a congenital infection in utero caused by variants in RNASEH2C.
      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'


        • Rice G.
        • Patrick T.
        • Parmar R.
        • Taylor C.F.
        • Aeby A.
        • Aicardi J.
        • et al.
        Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
        Am J Hum Genet. 2007; 81: 713-725
        • Garrec M.L.
        • Doret M.
        • Pasquier J.C.
        • Till M.
        • Lebon P.
        • Buenerd A.
        • et al.
        Prenatal diagnosis of Aicardi-Goutières syndrome.
        Prenat Diagn. 2005; 25: 28-30
        • Bourgon N.
        • Lefebvre M.
        • Kuentz P.
        • Thevenon J.
        • Jouan T.
        • Duffourd Y.
        • et al.
        Prenatal presentation of Aicardi-Goutières syndrome: nonspecific phenotype necessitates exome sequencing for definitive diagnosis.
        Prenat Diagn. 2019; 39: 806-810
        • Amari S.
        • Tsukamoto K.
        • Ishiguro A.
        • Yanagi K.
        • Kaname T.
        • Ito Y.
        An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1.
        Eur J Med Genet. 2020; 63103646
        • Al Mutairi F.
        • Alfadhel M.
        • Nashabat M.
        • El-Hattab A.W.
        • Ben-Omran T.
        • Hertecant J.
        • et al.
        Phenotypic and molecular spectrum of Aicardi-Goutières syndrome: a study of 24 patients.
        Pediatr Neurol. 2018; 78: 35-40