Cordato D J, Fulham M J, Yiannikas C
Department of Neurology, Concord Hospital, Sydney, Australia.
Mov Disord. 1998 Jan;13(1):162-6. doi: 10.1002/mds.870130131.
Wilson's disease is an autosomal-recessive inherited disorder that results in predominantly hepatic and neurologic manifestations. Neurologic abnormalities include tremor, ataxia, bradykinesia, rigidity, chorea, and dystonia. We report the clinical, radiologic, and serial FDG PET findings in a 20-year-old woman who presented with an asymmetric upper limb tremor caused by Wilson's disease. Reduced striatal and cerebral cortical glucose metabolism was demonstrated on a FDG PET study performed before the commencement of D-penicillamine therapy. After 6 months of treatment, the patient had shown only minimal clinical improvement, despite an increase in striatal and cerebral cortical glucose metabolism on a repeat FDG PET study. After 14 months of treatment, however, a moderate clinical improvement was noted and there was further increase in glucose metabolism on FDG PET.
威尔逊病是一种常染色体隐性遗传性疾病,主要表现为肝脏和神经系统症状。神经学异常包括震颤、共济失调、运动迟缓、僵硬、舞蹈症和肌张力障碍。我们报告了一名20岁女性因威尔逊病出现不对称上肢震颤的临床、放射学及系列氟代脱氧葡萄糖正电子发射断层扫描(FDG PET)结果。在开始使用青霉胺治疗前进行的FDG PET研究显示纹状体和大脑皮质葡萄糖代谢降低。治疗6个月后,尽管重复进行的FDG PET研究显示纹状体和大脑皮质葡萄糖代谢增加,但患者仅表现出轻微的临床改善。然而,治疗14个月后,观察到临床有中度改善,且FDG PET显示葡萄糖代谢进一步增加。