Günther P, Baum P, Then Bergh F, Hermann W
Klinik und Poliklinik für Neurologie, Universität Leipzig, Liebigstrasse 20, Leipzig, Germany.
Nervenarzt. 2010 Feb;81(2):226-8. doi: 10.1007/s00115-009-2876-0.
Wilson's disease is a rare autosomal recessive disorder of hepatic copper transport leading to hepatic but also to highly variable neurological symptoms with basal ganglia and cerebellar manifestation. Symptoms, signs and results of investigations can overlap with those of other central nervous system disorders such as multiple sclerosis and sometimes delay diagnosis.We report on a 38-year-old male patient who was diagnosed with a hepatic form of Wilson's disease at age 12 and with multiple sclerosis at age 38. Intravenous radio copper test confirmed the diagnosis of Wilson's disease. Multiple sclerosis was diagnosed after occurrence of transient sensory disturbances in both legs, based on typical changes on MRI over the course of 2 years, in the cerebrospinal fluid and in multimodal evoked potentials.Although Wilson's disease and multiple sclerosis are known as distinct diseases with a completely different pathophysiology, symptoms and results of evoked potentials overlap, and they share a common historic background. Similarities and differences of both disorders are discussed.
威尔逊病是一种罕见的常染色体隐性遗传性肝铜转运障碍疾病,可导致肝脏病变,还会引发具有基底神经节和小脑表现的高度可变的神经症状。其症状、体征及检查结果可能与其他中枢神经系统疾病(如多发性硬化症)重叠,有时会延误诊断。我们报告了一名38岁男性患者,他12岁时被诊断为肝型威尔逊病,38岁时被诊断为多发性硬化症。静脉注射放射性铜试验确诊了威尔逊病。在双腿出现短暂感觉障碍后,根据2年期间MRI、脑脊液及多模式诱发电位的典型变化,诊断为多发性硬化症。尽管威尔逊病和多发性硬化症是已知的具有完全不同病理生理学的不同疾病,但诱发电位的症状和结果重叠,且它们有共同的历史背景。本文讨论了这两种疾病的异同。