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A 57-year-old man with hemochromatosis and panhypopituitarism presented with a 6-month history of word-finding difficulty, short-term memory loss, and rapidly cycling symptoms consisting of a rising abdominal sensation into the chest and head associated with an electric-like “jolt” and speech difficulty lasting 4 to 8 seconds. Occasional, brief right-arm movements were observed by his family (Video). He reported 50 to 70 episodes daily. He was referred to the psychiatry and neurology departments at our hospital, and a video electroencephalogram (EEG) was ordered but did not reveal EEG changes with his events. He was referred for a second opinion to the neurology department, where, again, his episodes were captured without an EEG correlate. Magnetic resonance imaging of his brain, the results of which were initially interpreted as normal, revealed hyperintense mesial temporal lobes and basal ganglia (Figure, A and B), further confirmed by hypermetabolism on subsequent positron emission tomographic scans (Figure, C and D). Cerebrospinal fluid samples were confirmatory for anti–voltage-gated potassium channel (LGI1 subtype, 0.10 nmol/L) antibodies, and he underwent immunosuppressive therapy, which consisted of intravenous immunoglobulin (0.4 g/kg/d, 5-day course), high-dose intravenous methylprednisolone sodium succinate (1000 mg/d, 3-day course), and an infusion of rituximab (1000 mg, 1 injection); levetiracetam and gabapentin were also added to his regimen, with resolution of his rapid auras and focal dystonia. Whole-body positron emission tomography and ultrasonography of the testes did not reveal a neoplastic source.
患者为57岁男性，既往血色素沉着症和垂体功能减退症，因“找词困难、短期记忆丧失以及快速重复症状6个月”就诊。快速重复症状包括从腹部上升到胸部及头部的触电感以及持续4-8秒的言语困难。其家人有时可以观察到短暂的右臂运动（视频）。患者述类似现象每天发生50-70次。患者随后转诊到我院精神神经科，并进行了视频脑电图（EEG）检查，但症状发作时并没有发现异常脑电图改变。随后患者被转诊到我们神经科。而视频脑电图在患者症状发作时仍未发现异常脑电图。患者的头颅MRI最开始报告为正常，但阅片可发现颞叶内侧和基底神经节高信号（图A和B），而进一步正电子发射断层扫描显示高代谢信号（图C和D）。脑脊液检查显示抗电压门控钾通道抗体阳性（LGI1亚型，0.10 nmol/L），为此患者接受了免疫抑制治疗，包括静脉注射免疫球蛋白（0.4 g/kg/d，5天疗程）、大剂量静脉注射甲基泼尼松龙琥珀酸钠（1000 mg/d，3天疗程）以及利妥昔单抗（1000 mg，1次注射）;同时也应用了左乙拉西坦和加巴喷丁，控制了患者的快速重复症状和局灶性肌张力障碍。全身正电子发射断层扫描和睾丸超声检查未发现肿瘤。
Rapid stereotyped symptoms, although atypical of seizures given their duration, have been associated with anti-LGI1 encephalitis1 and should prompt a workup for autoimmune encephalitis when patients present with concurrent neuropsychiatric symptoms. The results of EEG recordings, during seizures without altered awareness, are frequently normal, and the lack of epileptic form EEG changes does not rule out an ictaletiology.2 The episodic focal dystonias seen in the patient are likely along the same spectrum as facial brachial dystonic seizures and possibly correlate with the patient’s basal ganglia hypermetabolism, which is associated with anti-LGI1 encephalitis.3 虽然快速刻板症状，但从时程上来说对于癫痫并不典型，但报道认为它们与抗LGI1脑炎有关[1]，当患者有此表现并且并发神经精神症状时，应该尽快进行自身免疫性脑炎相关检查。癫痫发作时而没有意识改变的情况下，EEG检查结果常为正常。而缺乏癫痫性脑电图改变并不排除脑血管性的病因[2]。该患者所表现的发作性局灶性肌张力障碍可能类似于面臂肌张力障碍发作，并且可能与患者基底神经节的高代谢有关，而后者与抗LGI1脑炎密切相关[3]。
图 神经影像扫描图片 磁共振成像（MRI）横断面FLAIR相显示双侧颞叶（A）和基底节区（B）T2高信号。氟脱氧葡萄糖F 18正电子发射断层扫描（FDG-PET）显示左侧颞叶内侧（C）和基底节（D）呈高代谢。 （全文终） |
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