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.
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References
- Clinical and molecular phenotype of Aicardi-Goutieres syndrome.Am J Hum Genet. 2007; 81: 713-725
- Prenatal diagnosis of Aicardi-Goutières syndrome.Prenat Diagn. 2005; 25: 28-30
- Prenatal presentation of Aicardi-Goutières syndrome: nonspecific phenotype necessitates exome sequencing for definitive diagnosis.Prenat Diagn. 2019; 39: 806-810
- An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1.Eur J Med Genet. 2020; 63103646
- Phenotypic and molecular spectrum of Aicardi-Goutières syndrome: a study of 24 patients.Pediatr Neurol. 2018; 78: 35-40
Article info
Publication history
Published online: January 10, 2023
Accepted:
January 9,
2023
Received:
December 9,
2022
Publication stage
In Press Journal Pre-ProofIdentification
Copyright
© 2023 Elsevier B.V. All rights reserved.
