Medical University of Białystok, Department of Psychiatry, Choroszcz, Poland.
Medical University of Białystok, Department of Neurology, Białystok, Poland.
Clin Neurol Neurosurg. 2020 Mar;190:105651. doi: 10.1016/j.clineuro.2019.105651. Epub 2019 Dec 26.
Wilson's disease is an inherited autosomal-recessive disorder of biliary copper excretion. It is characterized by hepatic, neurological and ophthalmic manifestations related to the accumulation of copper in the liver, the lenticular nuclei of brain and cornea. The authors present the case of a 29-year-old female with primarily depression manifestation of Wilson's disease. The patient also reported agitation, difficulties with concentration, slowdown of speech, and stuttering. In magnetic resonance imaging, in putamen, the globus pallidus, claustrum, the heads of caudate nucleus and thalamus areas demonstrated the increased signal in T2. A high copper content was obtained in daily urine collection and reduced level in serum. Similarly, ceruloplasmin level was decreased. Despite the antidepressant treatment with venlafaxine, no improvement was observed. Within a week of psychomotor slowdown, symptoms such as Parkinson's syndrome appeared. Due to the rapid progression of the disease symptoms, the patient was referred for further treatment at a specialistic center. After six month, despite the treatment, the progress of disease was so advanced that patient was transferred to the hospice. Two weeks later patient died. Wilson's disease might be consider in differential diagnosis of depression in young patients, especially if they present additional extrapyramidal symptoms and unspecific changes in magnetic resonance imaging.
威尔逊病是一种常染色体隐性遗传性胆汁排铜障碍。其特征是肝脏、神经和眼部表现与肝脏、脑晶状体核和角膜中铜的积累有关。作者介绍了一位 29 岁女性威尔逊病的主要抑郁表现的病例。该患者还报告了激越、注意力集中困难、言语迟缓、口吃。在磁共振成像中，壳核、苍白球、屏状核、尾状核头部和丘脑区域的 T2 信号增加。每日尿收集的铜含量高，血清水平降低。同样，铜蓝蛋白水平降低。尽管使用文拉法辛进行抗抑郁治疗，但未见改善。在精神运动减速后的一周内，出现帕金森综合征等症状。由于疾病症状迅速进展，患者被转诊到专门治疗中心进一步治疗。六个月后，尽管进行了治疗，但疾病进展如此迅速，患者被转到临终关怀病房。两周后，患者死亡。对于年轻患者的抑郁，尤其是有不典型的锥体外系症状和磁共振成像无特异性改变的患者，需要考虑威尔逊病的鉴别诊断。
