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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.
患者為57歲男性，既往血色素沉著癥和垂體功能減退癥，因“找詞困難、短期記憶喪失以及快速重復(fù)癥狀6個(gè)月”就診?？焖僦貜?fù)癥狀包括從腹部上升到胸部及頭部的觸電感以及持續(xù)4-8秒的言語困難。其家人有時(shí)可以觀察到短暫的右臂運(yùn)動(dòng)（視頻）?；颊呤鲱愃片F(xiàn)象每天發(fā)生50-70次?；颊唠S后轉(zhuǎn)診到我院精神神經(jīng)科，并進(jìn)行了視頻腦電圖（EEG）檢查，但癥狀發(fā)作時(shí)并沒有發(fā)現(xiàn)異常腦電圖改變。隨后患者被轉(zhuǎn)診到我們神經(jīng)科。而視頻腦電圖在患者癥狀發(fā)作時(shí)仍未發(fā)現(xiàn)異常腦電圖。患者的頭顱MRI最開始報(bào)告為正常，但閱片可發(fā)現(xiàn)顳葉內(nèi)側(cè)和基底神經(jīng)節(jié)高信號(hào)（圖A和B），而進(jìn)一步正電子發(fā)射斷層掃描顯示高代謝信號(hào)（圖C和D）。腦脊液檢查顯示抗電壓門控鉀通道抗體陽性（LGI1亞型，0.10 nmol/L），為此患者接受了免疫抑制治療，包括靜脈注射免疫球蛋白（0.4 g/kg/d，5天療程）、大劑量靜脈注射甲基潑尼松龍琥珀酸鈉（1000 mg/d，3天療程）以及利妥昔單抗（1000 mg，1次注射）;同時(shí)也應(yīng)用了左乙拉西坦和加巴噴丁，控制了患者的快速重復(fù)癥狀和局灶性肌張力障礙。全身正電子發(fā)射斷層掃描和睪丸超聲檢查未發(fā)現(xiàn)腫瘤。
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 雖然快速刻板癥狀，但從時(shí)程上來說對(duì)于癲癇并不典型，但報(bào)道認(rèn)為它們與抗LGI1腦炎有關(guān)[1]，當(dāng)患者有此表現(xiàn)并且并發(fā)神經(jīng)精神癥狀時(shí)，應(yīng)該盡快進(jìn)行自身免疫性腦炎相關(guān)檢查。癲癇發(fā)作時(shí)而沒有意識(shí)改變的情況下，EEG檢查結(jié)果常為正常。而缺乏癲癇性腦電圖改變并不排除腦血管性的病因[2]。該患者所表現(xiàn)的發(fā)作性局灶性肌張力障礙可能類似于面臂肌張力障礙發(fā)作，并且可能與患者基底神經(jīng)節(jié)的高代謝有關(guān)，而后者與抗LGI1腦炎密切相關(guān)[3]。
圖 神經(jīng)影像掃描圖片 磁共振成像（MRI）橫斷面FLAIR相顯示雙側(cè)顳葉（A）和基底節(jié)區(qū)（B）T2高信號(hào)。氟脫氧葡萄糖F 18正電子發(fā)射斷層掃描（FDG-PET）顯示左側(cè)顳葉內(nèi)側(cè)（C）和基底節(jié)（D）呈高代謝。 （全文終） |
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