本案例報告目的為藉由磁振造影(Magnetic Resonance Imaging,MRI)協助診斷威爾森氏症(Wilson's disease),威爾森氏症是一種罕見的遺傳性疾病且是少數能靠藥物治療的罕見疾病。本案例為20歲男性,因左下肢無力就醫,原懷疑為腦部腫瘤引起臨床症狀,後經過腦部磁振造影排除腫瘤並懷疑威爾森氏症,並做進一步檢查後確診。威爾森氏症在肝臟會有非特異性的症狀,可在電腦斷層影像中發現提供初步診斷方向,而在中樞神經會有典型的病灶,能夠藉由磁振造影的FLAIR技術提供鑑別診斷的依據,因此通過磁振造影檢查可以及早發現威爾森氏症,提早治療並終身服用藥物能使患者與正常人無異。
The purpose of this case report is to assist in diagnosis Wilson's disease by magnetic resonance imaging (MRI), a rare inherited disorder and it can be well treatment by medication. This case is a 20-year-old male who came to hospital due to left lower limb weakness. The case was suspected brain tumor led to clinical symptoms, after brain MRI rule out brain tumor and suspect Wilson's disease. The diagnosis was confirmed after further examination. Wilson's disease has non-specific symptoms in the liver, which can be found on computed tomography to provide a preliminary diagnosis direction, and there are several typical central neurological symptoms in Wilson's disease , which can provide a differential diagnosis basis by MRI . Therefore, Wilson's disease can be detected early through MRI. Early treatment and lifelong medication can make patients no different from normal people.