一例因 IFIH1 基因突变导致的严重艾卡迪-古蒂耶尔综合征患者的神经系统检查结果和最新文献综述。

IF 1.1 4区医学 Q4 CLINICAL NEUROLOGY

Neuropediatrics Pub Date : 2024-10-01 Epub Date: 2024-05-07 DOI:10.1055/a-2321-0597

Mojca Železnik, Tina Vipotnik Vesnaver, David Neubauer, Aneta Soltirovska-Šalamon

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引用次数: 0

摘要

艾卡迪-古铁雷斯综合征（AGS）是一种罕见的遗传性早发型进行性脑病，临床表现各异。IFIH1 基因突变已被证实可导致 I 型干扰素（IFN）的产生和 Janus 激酶（JAK）信号通路的激活。我们在此强调神经系统的观察结果和神经影像学发现，这是一例严重的病例报告，患者是一名因 IFIH1 基因突变而患 AGS 7 型的婴儿，在出生后第一个月被确诊。我们还通过最新文献回顾了 IFIH1 突变的神经学特征。

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

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.

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来源期刊

Neuropediatrics 医学-临床神经学

CiteScore

2.80

自引率

0.00%

发文量

审稿时长

>12 weeks

期刊介绍： For key insights into today''s practice of pediatric neurology, Neuropediatrics is the worldwide journal of choice. Original articles, case reports and panel discussions are the distinctive features of a journal that always keeps abreast of current developments and trends - the reason it has developed into an internationally recognized forum for specialists throughout the world. Pediatricians, neurologists, neurosurgeons, and neurobiologists will find it essential reading.