摘要:目的 总结以神经系统症状为首发症状的肝豆状核变性(Wilson disease，WD)的临床特点，为提高本病的早期诊断水平提供临床依据。 方法 分析1997年1月至2003年6月收治的以神经系统症状为首发症状的26例WD患者的临床资料。 结果 WD的首发神经系统症状主要包括锥体外系症状、认知功能障碍、智力下降等。所有患者均可见典型K-F环，分别有84.6%、46.2%和56.5%患者出现血清铜蓝蛋白下降、血清铜升高和24h尿铜升高;23.1%和53.8%患者分别有转氨酶升高和尿常规异常;73.7%患者有头颅CT/MRI阳性发现。 结论 对出现不明原因神经系统症状的儿童和青少年患者应注意WD可能性，伴有肝肾功能异常者更应高度怀疑。角膜K-F环，血清铜、铜蓝蛋白、24h尿铜测定均为灵敏度和特异性较高的诊断指标，头颅CT/MRI亦有辅助诊断价值。

    关键词:肝豆状核变性;首发症状;神经系统症状;影像学

    Clinical study on Wilson's Disease with manifestations of neurologic system as the initial symptoms.

    ZHAO Yan-ling，HUANG Jiang-bing.(Zhanjiang Municipal Central Hospital，Zhanjiang524000，Guangdong，P.R.China)

    Abstract:Objective To sum up and analyze clinical characteristics of Wilson Disease with neurologic symptoms as the initial symp-tom and provide clinical evidences for early diagnosis of this kind of WD. Methods Clinical data of26Wilson disease patients with neu-rologic symptoms as the initial symptomwere retrospectively analyzed by using SPSS8.0.They were all in patients in Zhanjiang Municipal Center Hospital from Jan.1997to Jun2003. Results Neurologic symptoms of these patients including extrapyramidal symptoms、abnormal cognition、poor intelligence etc.Typical Kayser-Fleischer Ring were found in all patients'hibateral corneas.Blood analysis was observed that the concentration of ceruloplasmin(CP)and24hour urine copper excretion decreased in84.6%and56.5%of the patients ......