University of California, 350 Parnassus Ave, Box 0137, San Francisco, CA 94143-0137, USA.
Pediatrics. 2010 Mar;125(3):e693-8. doi: 10.1542/peds.2009-1984. Epub 2010 Feb 8.
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.
急性坏死性脑病 (ANE) 是一种严重且迅速进展的神经系统疾病，发生在健康儿童常见病毒感染后。通常，ANE 是散发性的，不会复发。然而，已报道了家族性 (ANE1) 和复发性病例，并最近与 RANBP2（RAN 结合蛋白 2）的突变相关。我们在此报告一例多发性家族性 ANE 受累家系。这些受影响的男性同胞（一对双胞胎及其哥哥）均出现前驱发热和上呼吸道感染，在 72 小时内进展为癫痫发作、昏迷，最终死亡，这是 ANE 的典型病程。值得注意的是，1 名兄弟接受了早期积极治疗，包括皮质类固醇治疗，他又存活了 5 年。这是美国报告的第二例家族性 ANE 病例，也是唯一一例有血缘关系父母的男性同胞病例。我们希望早期识别和不断提高认识能够导致未来更有效的治疗和更好的结果。
