Acute necrotizing encephalopathy in 3 brothers.
Acute necrotizing encephalopathy in 3 brothers.
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DOI：
10.1542/peds.2009-1984
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发表时间：
2010-03
期刊：
影响因子：
8
通讯作者：
Strober JB
中科院分区：
文献类型：
--
作者：
Marco EJ;Anderson JE;Neilson DE;Strober JB
急性坏死性脑病(ANE)是一种破坏性的、进展迅速的神经系统疾病，发生在普通病毒感染后的健康儿童中。通常情况下，ANE是零星的，不会复发。然而，家族性(ANE1)和复发病例已被报道，最近与RANBP2(Ran结合蛋白2)突变有关。我们在此报告一复发性家族性神经根瘤的多重受累家系。这些受影响的男性兄弟姐妹(一对双胞胎和他们的哥哥)都出现了前驱发热和上呼吸道感染，在72小时内进展到癫痫发作、昏迷，最终死亡，这是ANE的典型过程。应该指出的是，1个兄弟接受了早期积极的治疗，包括皮质类固醇，他又活了5年。这是美国报告的第二例家族性ANE病例，也是唯一一例有近亲父母的男性兄弟姐妹。我们希望，早期认识和不断提高的认识可以导致更有效的治疗和更好的结果在未来。儿科2010；125：E693-E698
Acute necrotizing encephalopathy (ANE) is a devastating and rapidly progressive neurologic disorder that occurs in healthy children after common viral infections. Typically, ANE is sporadic and does not recur. However, familial (ANE1) and recurrent cases have been reported and were recently linked to mutations in RANBP2 (RAN-binding protein 2). We report here a multiply affected kindred with recurrent familial ANE. These affected male siblings (a set of twins and their older brother) all presented with prodromal fever and upper respiratory tract infection that progressed within 72 hours to seizures, coma, and ultimately death, a course that is typical of ANE. It should be noted that 1 brother was treated with early aggressive management, including corticosteroids, and he survived for an additional 5 years. This represents the second reported case of familial ANE in the United States and the only case of male siblings with consanguineous parents. We hope that early recognition and growing awareness can lead to more effective treatment and better outcomes in the future. Pediatrics 2010;125: e693–e698
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影响因子：
2.8
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