TY -的T1神经cryopyrin-associated周期性综合症摩根富林明的表现——神经学乔-神经病学SP - 1267 LP - 1270 - 10.1212 / WNL。首页0 b013e3181d9ed69六世- 74 - 16盟乔安娜·l·Kitley AU -海伦j . Lachmann盟Ashwin平托AU -莱昂内尔·金斯堡Y1 - 2010/04/20 UR - //www.ez-admanager.com/content/74/16/1267.abs首页tract N2 -背景:cryopyrin-associated周期性综合症(帽)是一种罕见但可治愈遗传性autoinflammatory条件。如果不治疗,三分之一的病人与顺向发展淀粉样变肾功能衰竭和死亡。帽包括3个条件:家族性寒冷autoinflammatory综合症,Muckle-Wells综合症和慢性小儿,神经系统,皮肤和关节综合症。儿童是常见的神经系统并发症的慢性小儿神经、皮肤、关节表型,但没有以前发表的报道成人神经功能与温和的表型。系列方法:在这种情况下,我们报告详细成人帽和总结神经功能出现在其它12个成人基因证明帽。这些患者参加了最近的一项随机研究的canakinumab在帽和我们使用预处理在这项研究中收集的数据。结果:12的13个病人(92%)有头痛、偏头痛的人10(77%)特征。七个病人(54%)有神经性耳聋。9例(69%)报告肌痛。 Six patients (46%) had papilledema and a further 2 (15%) had optic disc pallor. MRI brain scan was normal in all patients. Conclusion: CAPS is a rare but treatable condition that may be encountered by neurologists in adult clinical practice since it can present with headache, myalgia, papilledema, sensorineural deafness, and aseptic meningitis. Unrecognized and untreated, it can lead to significant morbidity and mortality from renal failure. Treatment with anti-interleukin-1 therapy leads to complete resolution of symptoms and should also prevent progression to amyloidosis and subsequent renal failure. CAPS=cryopyrin-associated periodic syndrome; CINCA=chronic infantile neurologic, cutaneous, and articular syndrome; CRP=C-reactive protein; ESR=erythrocyte sedimentation rate; FCAS=familial cold autoinflammatory syndrome; MWS=Muckle-Wells syndrome. ER -