Objective To investigate the clinical features of Wilson’s disease(WD) for the purpose of avoiding misdiagnosis and therefore improving the prognosis of this rare disease. Methods This study enrolled all the patients diagnosed as WD who were admitted to West China Hospital, Sichuan University from Jan 2008 to Dec 2014. Their clinical manifestations，head and abdominal images data were extracted and analyzed. Results There were a total of 126 patients of WD, male female ratio was 75∶51, median age was 21-years old. 10.3%(13/126) of them had family history, 87.3%(109/126) patients presented with neuropsychiatric symptoms, 14.3%(18/126) patients manifested as chronic liver disease. All patients had decreased serum ceruloplasmin level ＜200 mg/L, 121(96.9%) patients had serum ceruloplasmin level ＜100 mg/L. Magnetic resonance imaging and abdominal ultrasound detected structural abnormalities in 92.7%(102/110) and 88.9%(97/109) patients respectively. Kayser-Fleischer rings on slit-lamp ophthalmologic examination was found in 98.3%(115/117) patients. One patient underwent liver biopsy and the result of rhodanine stain was positive. The time from onset to diagnosis varied from 3 d to 19 years 〔(1.59±2.66) years〕. 20 (15.9%) patients were initially misdiagnosed. Conclusion The patients presenting with neurological signs or unexplained liver disease should be assessed carefully for WD. Serum ceruloplasmin, 24-h urinary copper, Kayser-Fleischer rings and sometimes even liver biopsy could be helpful for the diagnosis.
