Neurological findings and a brief review of the current literature in a severe case of Aicardi-Gutières syndrome due to IFIH1 mutation.

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.