Verma Rajesh, Bhandari Aveg, Tiwari Navin, Chaudhari Tejendra S
King George Medical University, Lucknow, Uttar Pradesh, India.
BMJ Case Rep. 2013 Aug 20;2013:bcr2013010415. doi: 10.1136/bcr-2013-010415.
Wilson disease (WD) is one of the few inherited but treatable disorder mainly affecting the liver and brain resulting in severe disability or death if left untreated. Hence, it is important to keep a high index of suspicion for diagnosing this clinical entity in appropriate clinical settings. The clinical presentation can be quite variable and they may present solely with neurological features sans hepatic symptoms. Such neurological manifestations usually follow subacute to chronic course. Acute onset anarthria as the heralding and predominant presenting feature has been rarely reported in the literature. We reported a case of a 12-year-old girl who presented with acute onset anarthria and dystonia of 1-month duration. On further evaluation, a diagnosis of WD was made. The patient showed partial improvement after she was started on copper chelating agents and anticholinergics.
威尔逊病（WD）是少数几种遗传性但可治疗的疾病之一，主要影响肝脏和大脑，如果不治疗会导致严重残疾或死亡。因此，在适当的临床环境中对这一临床实体进行诊断时，保持高度的怀疑指数很重要。临床表现可能差异很大，患者可能仅表现出神经症状而无肝脏症状。此类神经表现通常呈亚急性至慢性病程。文献中很少报道以急性起病的构音障碍作为首发和主要表现特征。我们报告了一例12岁女孩，她出现急性起病的构音障碍和持续1个月的肌张力障碍。进一步评估后，诊断为威尔逊病。患者在开始使用铜螯合剂和抗胆碱能药物后症状有部分改善。
