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點頭綜合征（Nodding syndrome）是一種由于失張力性發(fā)作造成的癲癇。點頭綜合征這種神秘的中樞神經(jīng)系統(tǒng)疾病目前為止僅在三個非洲國家報道過。近期，一項發(fā)表在《柳葉刀神經(jīng)病學》[Lancet Neurol 2013 Jan 7]雜志上的研究，對烏干達北部這種疾病流行模式出現(xiàn)的病例進行了研究，是首次系統(tǒng)性評估這種罕見的神經(jīng)系統(tǒng)疾病的臨床特點，短期預后，流行病學的研究。

 

研究發(fā)現(xiàn)，在23個孩子（7-15歲）中，大部分患兒每天都會出現(xiàn)點頭發(fā)作，30％的患兒有嚴重的認知功能障礙。包含78名兒童的較大研究組患兒，與年齡匹配的對照兒童相比，點頭癥狀通?？深A測如反應遲鈍和愚笨等認知功能障礙的表現(xiàn)。 

 來自美國佐治亞洲亞特蘭大疾病控制和預防中心（CDC）的James Sejvar博士及其同事在文中寫道，“研究結果表明，點頭綜合征是一種流行性癲癇，通常會與腦病有關。認知障礙可能是由于癲癇造成的，或可能是一種源自共同病理生理學的一個相關的特征。” 

CDC和烏干達衛(wèi)計委之間的合作發(fā)現(xiàn)，該疾病存在不同的腦電圖和臨床發(fā)作類型 表現(xiàn)，包括：失張力發(fā)作，強直-陣攣發(fā)作，不典型失神發(fā)作，即局灶性發(fā)作和全身發(fā)作均存在。觀察還發(fā)現(xiàn)，冷飲料、過熱的食物和寒冷的天氣都會觸發(fā)點頭發(fā)作。 

大部分患兒的腦磁共振成像掃描顯示存在廣泛的大腦和小腦萎縮，但未見局灶性或白質異常信號，排除任何炎癥因素。這些研究結果與穩(wěn)定的腦脊液蛋白水平共同提示，點頭綜合征是一種獨立的癲癇性疾病，而不是腦炎。 

 作者的結論稱，“點頭綜合征均有獨特的臨床和電圖特征，患病率較高，均有明顯的地域聚集性，這些刻板的現(xiàn)象使點頭綜合征更像是一種獨特的新疾病。”作者指出，這項研究的8個月隨訪未能對點頭綜合征死亡率趨勢和整個自然病程，以及聚集性特征進行評估。 

 在隨刊評論中，來自英國倫敦UCL兒童健康研究所的Helen Cross教授，對一種寄生蟲病，盤尾絲蟲?。ㄔ摬∨c癲癇有關）引起點頭綜合征的理論提出質疑。由于點頭綜合征會出現(xiàn)明顯的進行性神經(jīng)性系統(tǒng)性惡化，她說，“癲癇只是一種表現(xiàn)形式，而不是癲癇性腦病”。 

 Head-scratching persists despite nodding syndrome study.medwirenews.17 January 2013.

BACKGROUND: Nodding syndrome is an unexplained illness characterised by head-bobbing spells. The clinical and epidemiological features are incompletely described, and the explanation for the nodding and the underlying cause of nodding syndrome are unknown. We aimed to describe the clinical and neurological diagnostic features of this illness. METHODS: In December, 2009, we did a multifaceted investigation to assess epidemiological and clinical illness features in 13 parishes in Kitgum District, Uganda. We defined a case as a previously healthy child aged 5-15 years with reported nodding and at least one other neurological deficit. Children from a systematic sample of a case-control investigation were enrolled in a clinical case series which included history, physical assessment, and neurological examinations; a subset had electroencephalography (EEG), electromyography, brain MRI, CSF analysis, or a combination of these analyses. We reassessed the available children 8 months later. FINDINGS: We enrolled 23 children (median age 12 years, range 7-15 years) in the case-series investigation, all of whom reported at least daily head nodding. 14 children had reported seizures. Seven (30%) children had gross cognitive impairment, and children with nodding did worse on cognitive tasks than did age-matched controls, with significantly lower scores on tests of short-term recall and attention, semantic fluency and fund of knowledge, and motor praxis. We obtained CSF samples from 16 children, all of which had normal glucose and protein concentrations. EEG of 12 children with nodding syndrome showed disorganised, slow background (n=10), and interictal generalised 2·5-3·0 Hz spike and slow waves (n=10). Two children had nodding episodes during EEG, which showed generalised electrodecrement and paraspinal electromyography dropout consistent with atonic seizures. MRI in four of five children showed generalised cerebral and cerebellar atrophy. Reassessment of 12 children found that six worsened in their clinical condition between the first evaluation and the follow-up evaluation interval, as indicated by more frequent head nodding or seizure episodes, and none had cessation or decrease in frequency of these episodes. INTERPRETATION: Nodding syndrome is an epidemic epilepsy associated with encephalopathy, with head nodding caused by atonic seizures. The natural history, cause, and management of the disorder remain to be determined. FUNDING: Division of Global Disease Detection and Emergency Response, US Centers for Disease Control and Prevention.