Wilson病冻结步态25例临床分析

Clinical analysis of 25 cases of Wilson disease with freezing of gait

目的探讨Wilson病(WD)合并冻结步态患者的临床特征,提高临床医生对WD合并冻结步态的认识。方法对25例表现有冻结步态WD患者的发病年龄、病程、临床症状特征、影像学特点、治疗效果进行分析。结果 25例WD合并冻结步态患者,多青年期发病,病程时间较长。25例患者步态动作均表现有启动、转向困难,遇到障碍物后步态顺畅的矛盾现象;多合并中-重度肌张力障碍和肝硬化等,其他临床表现尚有言语障碍、多种异常不自主运动、精神症状等。颅脑MRI检查结果均显示双侧豆状核对称性异常信号,多合并有脑干(中脑、桥脑)、丘脑异常信号,部分有大脑皮质萎缩。短期驱铜治疗基础上加用溴隐亭、吡贝地尔缓释片治疗后冻结步态症状改善者18例,有效率72%。在上述治疗改善不明显者同时加用氯氮平改善4例,总有效率88%。结论表现有冻结步态WD患者的发病年龄较其他类型WD出现迟,冻结步态为作为WD首发症状者少见,多合并局灶性及全身性肌张力障碍;在积极驱铜治疗基础上合用多巴胺受体激动剂及氯氮平短期内能改善WD冻结步态。

Objective To assess the clinical features of Wilson disease（ WD） patients with freezing of gait（ FOG）,in order to facilitate recognition of the WD with FOG. Methods The age,course of disease,clinical symptoms characteristics,imaging features,apeutic efficacy of 25 cases of WD with FOG were analyzed. Results Twenty-five patients with WD with FOG offen onset in youth,and have long course of the disease. The gait movement in 25 patients had difficulty in starting,turning to,but smoothly when the obstacle was encountered,usually associated with severe dystonia and cirrhosis. The other clinical features included speech disorders, multiple abnormal involuntary movements,psychiatric symptoms,etc. MRI findings showed that the symmetrical abnormal signal of bilateral lenticular nucleus,brain stem（ midbrain,pons）,thalamus,part of it had cerebral cortex atrophy.After short-term treatment of copper-cleaning agents combined with bromocriptine,Piribedil sustained-release tablets,FOG could be improved in 18 cases,the effective rate was 72%. And clozapine was added in patients with no obvious improvement,and then 4 cases improved,the total effective rate was 88%. Conclusions WD with FOG is later than other types of WD in age of onset. FOG is rare in the onset of WD patients,and offen associated with multiple focal and generalized dystonia. Treatment of copper-cleaning agents combined with dopamine receptor agonists and clozapine have effect on WD with FOG in short term.