每日一题_2023.07.26

A 27-year-old man is brought to the emergency department after he was found shuffling unsteadily around a busy intersection for several hours. The patient is unreliable in providing his medical history. His vital signs are within normal limits. On physical examination his liver edge is palpable 6 cm below the costal margin and truncal spider angiomata are noted. Ophthalmologic examination reveals dark rings around the iris. His abdomen is soft and non-tender. Which of the following is the most likely diagnosis?

一名27岁的男子被送到急诊科，他被发现在一个繁忙的十字路口蹒跚地走了几个小时。病人提供的病史不可靠。他的生命体征在正常范围内。体格检查时，可触及肝缘缘缘下6厘米，并可见躯干蜘蛛状血管瘤。眼科检查显示虹膜周围有暗环。他的腹部柔软，无压痛。下列哪一项是最可能的诊断?

(A) Drug intoxication 药物中毒

(B) HIV infection HIV感染

(C) Parkinson disease 帕金森病

(D) Schizophrenia 精神分裂症

(E) Wilson disease Wilson病

答案解析：

该患者表现出Wilson病的几个典型特征。Wilson病是一种遗传性疾病，由机体铜结合蛋白铜蓝蛋白的绝对生成减少引起，其特征是基底神经节胶质细胞变性(产生帕金森样症状)、血浆铜水平升高、凯-弗莱舍环(角膜铜沉积)、小结节性肝硬化和神经精神症状。

正确答案：E