Heckmann J, Saffer D
Department of Neurology, Baragwanath Hospital, Johannesburg, South Africa.
Neurology. 1988 Sep;38(9):1493-5. doi: 10.1212/wnl.38.9.1493.
We describe a patient with extrapyramidal neurologic disease and an abnormal copper profile with hepatic copper accumulation, but no cirrhosis histologically, thus excluding a diagnosis of Wilson's disease (WD). We compared and highlighted the differences between similar previously reported cases of abnormal copper metabolism and true WD and suggest a spectrum of disease due to abnormal copper metabolism resulting in varied histochemical expression.
我们描述了一名患有锥体外系神经疾病且铜代谢异常伴有肝脏铜蓄积，但组织学上无肝硬化的患者，从而排除了威尔逊病（WD）的诊断。我们比较并强调了先前报道的类似铜代谢异常病例与真正的WD之间的差异，并提出由于铜代谢异常导致组织化学表达各异的一系列疾病。
