Ayzenberg Ilya, Ellrichmann Gisa, Schroeder Christoph, Tönges Lars, Klasing Anja, Pappa Vaia, Brück Wolfgang, Gold Ralf
Department of Neurology, St. Josef Hospital Bochum, Ruhr University Bochum, Bochum, Germany.
Department of Neurology, Sechenov First Moscow State Medical University, Moscow, Russia.
Front Neurol. 2019 Aug 2;10:829. doi: 10.3389/fneur.2019.00829. eCollection 2019.
To report a rare case of brainstem encephalitis with low-titer acetylcholine receptor antibodies mimicking myasthenia gravis. The patient was investigated with repeated brain MRI, CSF examination, repetitive nerve stimulation, thoracic CT, and serologic screening. Our patient passed away and finally autopsy revealed a definitive diagnosis. Written informed consent was obtained from the relatives of the patient for access to clinical files for research purposes and publication. We present a young woman with a subacute bulbar syndrome, who was initially diagnosed with myasthenia gravis based on clinical finding and elevated acetylcholine receptor antibodies. Episodes of numbness in the pharynx and tongue and moderate saccadic horizontal and vertical pursuits were atypical. Despite initial stabilization with intravenous immunoglobulins she developed acute asphyxia after regurgitation of food and had to be resuscitated with ultimately lethal outcome. Autopsy revealed an autoimmune T-cell mediated brainstem encephalitis. Serological screening revealed positive GAD and Ma2 autoantibodies, indicating its probable paraneoplastic nature. Brainstem encephalitis is an important differential diagnosis even in seropositive bulbar myasthenia gravis, as several autoimmune processes often co-occur. Sudden unexpected death must be taken into account in brainstem encephalitis, requiring prolonged monitoring of the patients.
报告一例罕见的脑干脑炎，其乙酰胆碱受体抗体滴度低，临床表现类似重症肌无力。对该患者进行了多次脑部磁共振成像（MRI）、脑脊液检查、重复神经电刺激、胸部CT及血清学筛查。患者最终死亡，尸检明确了诊断。已获得患者亲属的书面知情同意，以便获取临床资料用于研究和发表。我们报告一名患有亚急性延髓综合征的年轻女性，最初根据临床表现及乙酰胆碱受体抗体升高被诊断为重症肌无力。咽部和舌部麻木发作以及水平和垂直方向的中度眼球跳动性追踪并不典型。尽管最初静脉注射免疫球蛋白后病情稳定，但患者在食物反流后出现急性窒息，最终复苏无效死亡。尸检显示为自身免疫性T细胞介导的脑干脑炎。血清学筛查显示谷氨酸脱羧酶（GAD）和Ma2自身抗体呈阳性，提示其可能具有副肿瘤性质。即使在血清学阳性的延髓重症肌无力患者中，脑干脑炎也是重要的鉴别诊断，因为多种自身免疫过程常同时发生。脑干脑炎患者必须考虑到突然意外死亡的情况，需要对患者进行长期监测。
