Supplementary Material for: Wilson’s Disease: A Great Masquerader

Background: Wilson’s disease (WD) is a treatable autosomal recessive metabolic disorder which could lead to protean hepatic or neurologic manifestations. WD could mimic many neurologic disorders and is often diagnosed with a long delay. This study describes central nervous system manifestations of a group of Iranian patients with neurologic WD. Methods: Data from case records of patients with neurologic WD presenting at a referral university hospital and a private clinic in Tehran from 1984 to 2004 were analyzed. Results: Fifty patients from 44 unrelated families with WD were identified, whose mean duration of follow-up was 51.8 (±58.5) months. The median age of onset of neurologic symptoms in 37 patients with primary neurologic or simultaneous hepatic-neurologic presentation was 16 (10–38) years, whereas in 13 patients with prior hepatic damage, this was 18.5 (11–34) years. The 6 most common manifestations were dysarthria (80%), drooling (48%), tremor in limbs (44%), abnormal gait (44%), psychiatric and/or sleep symptoms (44%), and dystonia in limbs (42%). Conclusion: Neurologic WD has heterogeneous manifestations and should be considered in young patients presenting with dysarthria, drooling, any kind of movement disorders or psychiatric symptoms.

背景：威尔逊病（Wilson’s disease，WD）是一种可治疗的常染色体隐性代谢性疾病，可引发多种肝脏或神经系统表现。该病可模拟多种神经系统疾病，且常被延误诊断。本研究描述了一组伊朗神经型威尔逊病患者的中枢神经系统表现。
方法：本研究分析了1984年至2004年间，在德黑兰某转诊大学医院及私立诊所就诊的神经型威尔逊病患者的病例记录数据。
结果：本研究共纳入来自44个无关家系的50例威尔逊病患者，平均随访时长为51.8（±58.5）个月。其中，以原发性神经系统表现或肝-神经联合起病的37例患者，其神经系统症状起病中位年龄为16（10~38）岁；而既往存在肝脏损害的13例患者，该中位年龄为18.5（11~34）岁。最常见的6种临床表现依次为构音障碍（80%）、流涎（48%）、肢体震颤（44%）、步态异常（44%）、精神及/或睡眠症状（44%）以及肢体肌张力障碍（42%）。
结论：神经型威尔逊病临床表现具有异质性，对于以构音障碍、流涎、各类运动障碍或精神症状就诊的年轻患者，应考虑该病的可能性。