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Neuropediatrics
DOI: 10.1055/a-2321-0597
Short Communication

Neurological Findings and a Brief Review of the Current Literature in a Severe Case of Aicardi-Goutières Syndrome Due to an IFIH1 Mutation

Mojca Železnik 
1   Division of Pediatrics, Department of Neonatology, University Medical Centre Ljubljana, Ljubljana, Slovenia
,
Tina Vipotnik Vesnaver
2   Institute of Radiology, University Medical Centre Ljubljana, Ljubljana, Slovenia
,
David Neubauer
3   Division of Pediatrics, Adolescent and Developmental Neurology, Department of Child, University Medical Centre Ljubljana, Ljubljana, Slovenia
,
Aneta Soltirovska-Šalamon
1   Division of Pediatrics, Department of Neonatology, University Medical Centre Ljubljana, Ljubljana, Slovenia
4   Department of Pediatrics, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia
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Abstract

Aicardi-Goutières syndrome (AGS) is a rare genetic early-onset progressive encephalopathy with variable clinical manifestations. The IFIH1 mutation has been confirmed to be responsible for type I interferon production and activation of the Janus kinase signaling pathway. We herein stress neurological observations and neuroimaging findings in a severe case report of an infant with AGS type 7 due to an IFIH1 mutation who was diagnosed in the first month of life. We also review neurological characteristics of IFIH1 mutations through recent literature.

Keywords

Aicardi-Goutières syndrome - IFIH1 - type I interfernopathy - calcifying encephalopathy


Publication History

Received: 10 April 2024

Accepted: 06 May 2024

Accepted Manuscript online:
07 May 2024

Article published online:
31 May 2024

© 2024. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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