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 (IFN) production and activation of the Janus kinase (JAK) 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 first month of life. We also review neurological characteristics of IFIH1 mutations through recent literature.
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