Neurology Department, Aeginition Hospital, University of Athens, Greece.
Neuromuscul Disord. 2013 Jul;23(7):568-70. doi: 10.1016/j.nmd.2013.03.013. Epub 2013 Apr 25.
About 10% of patients with generalized myasthenia gravis do not have detectable antibodies to acetylcholine receptor or muscle specific kinase (double seronegative myasthenia). The presence of anti-low density lipoprotein receptor-related protein 4 antibodies (LRP4 Abs) has recently been reported in variable proportion of double seronegative cases. We report the presenting characteristics of two double seronegative myasthenic patients from Greece with anti-LRP4 antibodies shortly after disease onset. The first patient, a 52-year-old male, presented with a one month history of isolated neck extensor weakness; the second patient is a 52-year-old female with three months history of ocular-bulbar-cervical myasthenic weakness. Both patients presented with mild severity and responded promptly and adequately to pyridostigmine. In the female patient thymic residual tissue was detected on CT of the mediastinum. She underwent thymectomy, and histological examination revealed follicular hyperplasia. This is the first clinical report of the presenting features of newly diagnosed myasthenia with anti-LRP4 antibodies. The clinical and therapeutic implications of the anti-LRP4 antibody positivity remain to be clarified.
约 10%的全身性重症肌无力患者检测不到乙酰胆碱受体或肌肉特异性激酶抗体(双阴性重症肌无力)。最近有报道称,在不同比例的双阴性病例中存在抗低密度脂蛋白受体相关蛋白 4 抗体(LRP4 Abs)。我们报告了两位来自希腊的双阴性重症肌无力患者在疾病发作后不久出现抗 LRP4 抗体的表现特征。第一位患者是 52 岁男性,表现为孤立性颈伸肌无力 1 个月;第二位患者是 52 岁女性,有 3 个月的眼-球-颈肌无力病史。两位患者的病情均较轻,对吡啶斯的明反应迅速且充分。在女性患者的纵隔 CT 上发现了胸腺残余组织。她接受了胸腺切除术,组织学检查显示滤泡增生。这是首例新诊断的抗 LRP4 抗体阳性重症肌无力的临床表现报告。抗 LRP4 抗体阳性的临床和治疗意义仍有待阐明。