Akil M, Brewer G J
Department of Psychiatry, University of Pittsburgh, Western Psychiatric Institute and Clinic, Pennsylvania 15213.
Adv Neurol. 1995;65:171-8.
From the literature and our experience, a relatively consistent picture of psychiatric and behavioral abnormalities in Wilson's disease emerges. The essential elements of this picture are as follows: 1. Psychiatric and behavioral abnormalities are frequent manifestations of WD. The estimates range from 30% (18) to 100% (2) of symptomatic patients. As Wilson himself was the first to state in reference to "mental change," "its importance should not be underestimated." 2. Psychiatric and behavioral abnormalities are often the initial manifestations of WD. Two thirds of our patients first presented with psychiatric symptoms and one third received psychiatric treatment before the diagnosis of WD was made. In the early stages of the disease, when psychiatric and behavioral symptoms predominate, the diagnosis is often missed. Of our 124 patients, WD was diagnosed in only one during this phase. Until the psychiatric presentation of WD is recognized, and the disease is included in the differential diagnosis of psychiatric symptoms, its diagnosis will be missed or delayed. In our patients, and others' (13,15), the delay in diagnosis ranged from 1 to 5 years. Such a delay is particularly tragic as favorable outcome depends upon early discovery. 3. The most common of the psychiatric and behavioral manifestations of WD include: personality changes such as irritability and low threshold to anger, depression sometimes leading to suicidal ideation and attempts, deteriorating academic and work performance that is present in almost all neurologically affected patients. We (1) have also observed, as did Scheinberg and Sternlieb (2) that WD patients exhibit increased sexual preoccupation and reduced sexual inhibition. Finally, cognitive impairment, psychosis, anxiety, and other psychiatric disorders, although less frequent, also occur. 4. Some of the psychiatric and behavioral symptoms are reversible with WD-specific therapy, whereas others are not. We are impressed with the frequency with which the behavioral and "cognitive" symptoms are reversed over 1 to 2 years of treatment.(ABSTRACT TRUNCATED AT 250 WORDS)
从文献及我们的经验来看，威尔逊氏病患者的精神和行为异常情况已呈现出相对一致的特征。这些特征的要点如下：1. 精神和行为异常是威尔逊氏病的常见表现。有症状患者中此类表现的比例估计在30%（文献18）至100%（文献2）之间。正如威尔逊本人最早在提及“精神变化”时所说：“其重要性不应被低估。”2. 精神和行为异常常为威尔逊氏病的首发表现。我们的患者中有三分之二最初表现为精神症状，三分之一在威尔逊氏病确诊前接受过精神科治疗。在疾病早期，当精神和行为症状占主导时，诊断常常被漏诊。在我们的124例患者中，在此阶段仅有1例被诊断为威尔逊氏病。在威尔逊氏病的精神症状表现得到认识，且该疾病被纳入精神症状鉴别诊断之前，其诊断将会被漏诊或延误。在我们的患者以及其他患者（文献13、15）中，诊断延误时间为1至5年。由于良好预后取决于早期发现，这种延误尤为悲惨。3. 威尔逊氏病最常见的精神和行为表现包括：性格改变，如易怒、易激惹；抑郁，有时导致自杀念头和自杀企图；学业和工作表现下降，几乎所有神经受累患者均有此表现。我们（文献1）以及申伯格和斯特恩利布（文献2）也观察到，威尔逊氏病患者表现出性方面的关注增加和性抑制降低。最后，认知障碍以及精神病性症状、焦虑和其他精神障碍虽较少见，但也会出现。可通过威尔逊氏病特异性治疗逆转。我们对治疗1至2年后行为和“认知”症状逆转的频率印象深刻。（摘要截选至250词）
