Litwin Tomasz, Langwińska-Wośko Ewa, Dzieżyc Karolina, Członkowska Anna
II Department of Neurology, Institute Psychiatry and Neurology, Warsaw, Poland.
Department of Ophthalmology, Medical University Warsaw, Warsaw, Poland.
Pract Neurol. 2015 Oct;15(5):385-6. doi: 10.1136/practneurol-2014-001056. Epub 2015 May 2.
A 41-year-old man with liver cirrhosis of unknown aetiology for 6 years was admitted to our department to confirm the diagnosis of Wilson's disease. He consulted an ophthalmologist who suspected the presence of a sunflower cataract and Kayser-Fleischer ring. At admission, his liver function tests were modestly impaired (Child-Pugh C, 10 pts). Neurological examination was normal, but cognitive functions were mildly impaired. Based on the copper metabolism abnormalities and clinical manifestation, we diagnosed Wilson's disease (Ferenci score, 6 pts) and started treatment with d-penicillamine. Presenting the case we would like to emphasise the significance of the ophthalmological examination in Wilson's disease diagnosis.
一名患有6年病因不明肝硬化的41岁男性被收入我科,以明确肝豆状核变性的诊断。他咨询了眼科医生,医生怀疑存在向日葵样白内障和凯-弗环。入院时,他的肝功能检查有轻度损害(Child-Pugh C级,10分)。神经系统检查正常,但认知功能有轻度损害。基于铜代谢异常和临床表现,我们诊断为肝豆状核变性(Ferenci评分,6分),并开始用青霉胺治疗。通过展示该病例,我们想强调眼科检查在肝豆状核变性诊断中的重要性。