The head nodding syndrome-Clinical classification and possible causes
The head nodding syndrome-Clinical classification and possible causes
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DOI：
10.1111/j.1528-1167.2008.01671.x
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发表时间：
2008-12-01
期刊：
影响因子：
5.6
通讯作者：
Schmutzhard, Erich
中科院分区：
文献类型：
--
作者：
Winkler, Andrea S.;Friedrich, Katrin;Schmutzhard, Erich
20世纪60年代在坦桑尼亚，L.Jilek-aall观察到一种以点头(HN)为特征的癫痫障碍。几十年后，苏丹报道了一种让人想起坦桑尼亚的“点头病”。到目前为止，这种癫痫发作障碍还没有被分类，可能的原因仍然不清楚。在坦桑尼亚南部的一项前瞻性研究中，我们评估了62名HN患者。入选患者接受血液(n=51)和脑脊液(n=48)分析。12例行MRI检查，10例行EEG检查，安静类型分为“单纯点头”和“点头加”，后者合并其他类型癫痫34例。HN期间11例(17.7%)出现意识障碍，15例(24.2%)出现癫痫发作的支持性体征。有11例(17.7%)患者确认了诱发因素。56例(90.3%)患者至少有一位亲属患有癫痫。EEG证实两名患者有发作间期癫痫活动，四名患者有非特异性改变。MRI表现为海马区病理改变5例，胶质细胞改变5例。皮肤聚合酶链式反应(聚合酶链式反应)阳性的螺旋体与MRI上的病变显著相关。然而，所有病例的脑脊液聚合酶链式反应都是阴性的。我们提出了一个全面的临床描述的“HN综合征”，可能是一种新的癫痫障碍在撒哈拉以南的非洲。尽管脑脊液的聚合酶链式反应阴性，但螺旋杆菌的MRI损害及其与皮肤聚合酶链式反应阳性的相关性是耐人寻味的，值得注意。此外，海马区硬化症的高发病率和癫痫的家族聚集性可能指向其他潜在的致病机制。
In the 1960s in Tanzania, L. Jilek-Aall observed a seizure disorder characterized by head nodding (HN). Decades later, "nodding disease," reminiscent of what was seen in Tanzania, was reported from Sudan. To date this seizure disorder has not been classified and possible causes still remain obscure.In a prospective study in southern Tanzania, we evaluated 62 patients with HN. Selected patients underwent blood (n = 51) and cerebrospinal fluid (CSF) (n = 48) analyses. Others were chosen for MRI (n = 12) and EEG (n = 10).Seizure type was classified as "head nodding only" and "head nodding plus," the latter being combined with other types of seizure (n =34). During HN, consciousness was impaired in 11 patients (17.7%) and supportive signs of epileptic seizures were described by 15 (24.2%) patients. Precipitating factors were confirmed by 11 (17.7%) patients. Fifty-six (90.3%) patients had at least one relative with epilepsy. EEG confirmed interictal epileptic activity in two patients and unspecific changes in four patients. MRI showed hippocampus pathologies (n = 5) and gliotic changes (n = 5). Skin polymerase chain reaction (PCR) positivity for Onchocerca volvulus was significantly associated with lesions on MRI. However, PCR of the CSF was negative in all cases.We present a comprehensive clinical description of the "HN syndrome," possibly a new epilepsy disorder in sub-Saharan Africa. MRI lesions and their association with positive skin PCR for O. volvulus despite negative PCR of the CSF is intriguing and deserves attention. Furthermore, the high prevalence of hippocampus sclerosis and familial clustering of epilepsy may point toward other potential pathogenetic mechanisms.