珍珠和Oy-sters:步态不稳,下颌肌张力障碍,在一个女人和水平复视Anti-Ri抗体和乳腺癌

文摘

一个40岁的女人被6个月进步步态障碍,降低limb-predominant弱点,刚度、下降,下颌肌张力障碍,水平复视,和减肥。神经系统检查发现水平凝视麻痹性痴呆,有限的开口处,口气中带着明显的咬肌肥大和痉挛性下肢轻瘫持续阵挛和上行足底响应。MRI显示在侧脑桥T2-hyperintense信号异常,髓质,和上颈脊髓中央灰质扩展C3,没有钆增强。脑脊液显示轻度升高蛋白和免疫球蛋白(免疫球蛋白)指数CSF-specific寡克隆。神经自身抗体检测呈阳性anti-Ri脑脊液和血清的老鼠大脑间接免疫荧光和免疫印迹。测试aquaporin-4 (AQP4)免疫球蛋白和髓少突细胞糖蛋白(MOG)细胞免疫球蛋白的测定是负面的。病人接受甲基强的松龙1 g 5天,静脉注射免疫球蛋白与强的松2 g / kg / 2天锥和肉毒杆菌毒素注射下颌肌张力障碍。磁共振发现左腋窝淋巴结肿大氟- 18 -去氧葡萄糖摄取高。左腋窝淋巴结活检证实高档,局部浸润性乳腺腺癌。神经系统稳定后记录随访2周出院之前修改的根治性乳房切除术。 Our case demonstrates a clinical triad highly suggestive of anti–Ri-associated paraneoplastic neurologic syndrome (Ri-PNS): gait instability, jaw dystonia, and horizontal gaze paresis. The more slowly progressive course and poor response to immunotherapy help distinguish it from AQP4-IgG–seropositive neuromyelitis optica spectrum disorder (NMOSD) and MOG-IgG–associated disease (MOGAD) that share similar radiographic features. Early diagnosis, prompt immunotherapy, and cancer treatment are paramount for disease stabilization.