Abstract：
Wilson\'s disease is arare inherited disorder of copper met abolism. If le f t untre ated, i t can turn into a multi systemic disease with copper deposition in the liver, brain, a nd other tissues. Diagnosi s of Wilson\'s is delayed in Pak ist an by many ye a rs on average due to va riabl e presen tations. In ad olescents, the initial s igns a re more likely to b e neuropsychiatric. Here we present a case of Wilso n\'s disease that pre sented initially with he patic symptoms and did not have signs specific to the di sea s e such as Kayser-Fleischer rings. Our case was diagnosed to be Wilson\'s Disease on ly on further investigat ions and s ubsequently the patient was treated with chela tion therapy using D-Penicillamine.Wilson\'s Disease should be kept in mind as a differential diagno sis in adolesce nt patients that present with unexplained acute liver failure and cytopenias without any neurological symptoms, as a missed diagnosis can prove to be fatal.
摘要：
威尔逊病是铜代谢的一种遗传性疾病。如果没有记录，我不能变成肝脏铜沉积的多系统疾病，大脑,和其他组织。威尔逊的诊断在巴基斯坦平均被推迟了许多人，这是由于不同的陈述。在青少年中，最初的s更有可能是神经精神病学的。在这里，我们介绍了一例Wilson's疾病，该疾病最初是由他的症状引起的，并且没有诸如Kayser-Fleischer环之类的特定于海的体征。我们的病例经进一步调查后被诊断为威尔逊病，随后患者接受了使用D-青霉胺的化学疗法。威尔逊病应被铭记为青少年患者的鉴别诊断，这些患者存在无法解释的急性肝功能衰竭和血细胞减少，没有任何神经系统症状，因为漏诊可能是致命的。
