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肝豆状核变性是一种常染色体隐性遗传疾病。由铜代谢障碍所致的肝脑变性病.常以神经系病变表现为主,虽然Wilson描述此病时已联系到肝脏病变,而后临床上也采用了肝豆状核变性这一病名,但此病肝脏症状仍被放在次要的地位,它在神经系症状出现之前的诊断意义,似乎尚未得到普遍重视,因而有的确诊时已达晚期。症状典型不难诊断,常因不典型而不易早期发现。鉴于其预后的好坏,在很大程度上取决于治疗的早晚,如在出现神经系症状之前进行治疗,效果较好。本文旨在结合我院收治5例的临床观察,对不典型临床表现加以讨论,为早期诊断提供线索。
Hepatolenticular degeneration is an autosomal recessive disease. Often caused by copper metabolism disorders of hepatic degenerative disease .Nervous system lesions often performance, although Wilson described the disease has been linked to liver disease, and clinical also adopted the name of hepatolenticular degeneration, but this Symptoms of liver disease remain secondary, and its diagnostic significance prior to the appearance of neurological symptoms does not appear to have gained universal attention and, as a result, has advanced to the advanced stage of diagnosis. Typical symptoms are not difficult to diagnose, often due to atypical and not easy to find early. In view of its prognosis is very much depends on the treatment sooner or later, as in the treatment of neurological symptoms before treatment, the better. This article aims to combine the clinical observation of 5 cases admitted to our hospital to discuss the atypical clinical manifestations, providing clues for the early diagnosis.