A Rare Case of COVID-19 Related Acute Necrotizing Encephalopathy With the RANBP2 Mutation in a Pediatric Patient.

Evangelos Christou, Alkisti Kotsia, Konstantinos Tziouvas, Panagiotis Filias, Aristoula Patsoura
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Abstract

Acute necrotizing encephalopathy (ANE) is a rare childhood neurological disorder. The familiar type of ANE (ANE1) is associated with a mutation in the RANBP2 gene. Both SARS-CoV-2 and RANBP2 mutations are responsible for the manifestation of a hyper-inflammatory response that invades the central nervous system and plays a key role in the rapid progression of encephalopathy.
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一例罕见的与 COVID-19 相关的急性坏死性脑病儿科患者的 RANBP2 基因突变
急性坏死性脑病(ANE)是一种罕见的儿童神经系统疾病。我们熟悉的急性坏死性脑病(ANE1)与 RANBP2 基因突变有关。SARS-CoV-2 和 RANBP2 基因突变都会导致入侵中枢神经系统的高炎症反应,并在脑病的快速发展中发挥关键作用。
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