2026-07-21T16:29:19Zhttps://repisalud.isciii.es/rest/oai/requestoai:repisalud.isciii.es:20.500.12105/140602025-03-12T09:51:12Zcom_20.500.12105_5571com_20.500.12105_2404com_20.500.12105_2403col_20.500.12105_5713
Repisalud
author
Esteban-Marfil, MV
author
Martínez-Espinosa, N
author
Santiago-Gutiérrez, C
author
Sierra-Córcoles, C
author
Cruz-Moreno, J de la
author
Sanchís-Calvo, A
author
Crow, YJ
author
Martínez-Frías, María Luisa
2022-04-18T11:44:36Z
2022-04-18T11:44:36Z
2009-10
Boletín del ECEMC: Rev Dismor Epidemiol 2009; V (nº 8): 2-8
0210–3893
Boletín del ECEMC: Revista de Dismorfología y Epidemiología
http://hdl.handle.net/20.500.12105/14060
Aicardi-Goutières Syndrome (AGS) is a genetic disorder with autosomal recessive aetiology characterized by an early developed encephalopathy with severe physical and mental handicaps. The neonatal form (20% of the cases) shows a phenotype similar to a congenital infection, hence there exists the possibility of misdiagnosis and misinformation to parents about the risk of recurrence. We present a new case of AGS with a neonatal onset and also review clinical patterns, laboratory and neuroimaging findings, and new advances in geneticmolecular diagnosis that have allowed us to delineate the phenotypic spectrum and confirm the aetiology in more than 80% of cases.
spa
Síndrome de Aicardi-Goutieres de presentación neonatal simulando infección congénita
research article
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URL
https://repisalud.isciii.es/bitstreams/3c0acd15-bc7d-41ac-9ce3-ec4ba816962e/download
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application/pdf
SíndromeAicardiGoutieresPresentación_2009.pdf
URL
https://repisalud.isciii.es/bitstreams/c8863239-5dfb-48bf-9b93-d524227671ed/download
File
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text/plain
SíndromeAicardiGoutieresPresentación_2009.pdf.txt