Firneisz G, Szalay F, Halasz P, Komoly S
1st Dept of Medicine, Semmelweis University, Budapest, Hungary.
Acta Neurol Scand. 2000 Apr;101(4):286-8. doi: 10.1034/j.1600-0404.2000.101004286.x.
Wilson's disease (WD) shows a wide heterogeneity in symptoms. In this case report we present hypersomnia as a symptom of WD. The male patient's complaints as fatigue, decreased level of concentration, and highly increased demand of sleeping started at his age of 21 years. No abnormality was found at physical examination. A moderate elevation in liver function tests was found, but all the other laboratory findings were within the normal range. The marked hypersomnia was verified by 24-h cassette EEG polisomnographic monitoring. No abnormality was found at physical examination. EEG, brain CT and MRI were normal. Neither toxic nor infectious disease was detectable. The diagnosis of WD was based on decreased coeruloplasmin level, increased baseline and forced urinary excretion of copper, and decreased level of serum copper. Kayser-Fleischer ring was not detectable. D-penicillamine (DPA) was introduced. At 8-10 months after the initiation of the therapy the patient's complaints gradually resolved. The control sleep record 14 months after the initiation of the DPA therapy was normal. Five years later the patient is currently on penicillamine treatment and he is free of any symptom.
威尔逊病（WD）在症状上表现出广泛的异质性。在本病例报告中，我们呈现了以发作性睡病为症状的WD。该男性患者在21岁时开始出现疲劳、注意力下降以及睡眠需求大幅增加等症状。体格检查未发现异常。肝功能检查有中度升高，但其他所有实验室检查结果均在正常范围内。通过24小时盒式脑电图多导睡眠图监测证实了明显的发作性睡病。体格检查未发现异常。脑电图、脑部CT和MRI均正常。未检测到中毒或感染性疾病。WD的诊断基于血浆铜蓝蛋白水平降低、铜的基线和强迫尿排泄增加以及血清铜水平降低。未检测到凯-弗环。开始使用青霉胺（DPA）治疗。治疗开始8 - 10个月后，患者的症状逐渐缓解。DPA治疗开始14个月后的对照睡眠记录正常。五年后，该患者目前正在接受青霉胺治疗，且没有任何症状。
