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多灶性肌阵挛作为肝豆状核变性的先兆表现

Multifocal myoclonus as a heralding manifestation of Wilson disease.

作者信息

Verma Rajesh, Holla Vikram V, Pandey Suchit, Rizvi Imran

机构信息

Department of Neurology, King George's Medical University, Lucknow, Uttar Pradesh, India.

出版信息

J Pediatr Neurosci. 2016 Oct-Dec;11(4):358-360. doi: 10.4103/1817-1745.199468.

Abstract

Wilson disease (WD) is one of the few curable movement disorders that manifests with varied presentations so that WD needs to be considered in any patient with a movement disorder under the age of 50 years. Although WD is one of the causes of myoclonus, it is rarely seen in WD and usually as an associated finding. We report a case of an adolescent female patient of WD who presented with cortical multifocal myoclonus of 6-month duration with later development of generalized dystonia, extrapyramidal syndrome, and cognitive decline. Kayser-Fleischer ring was present on slit lamp examination. Serum copper, urine copper, serum ceruloplasmin, and magnetic resonance imaging brain were consistent with the diagnosis of WD. Copper chelation was started along with other symptomatic treatments and diet modifications. Myoclonus had resolved by 3-month follow-up with the improvement of other symptoms. This case report emphasizes that myoclonus can be the main and presenting feature of WD.

摘要

威尔逊病(WD)是少数可治愈的运动障碍疾病之一,其表现多样,因此对于任何50岁以下患有运动障碍的患者都需要考虑WD。虽然WD是肌阵挛的病因之一,但在WD中很少见,通常是一种伴随表现。我们报告一例WD青少年女性患者,该患者出现持续6个月的皮质多灶性肌阵挛,随后发展为全身性肌张力障碍、锥体外系综合征和认知功能减退。裂隙灯检查发现有Kayser-Fleischer环。血清铜、尿铜、血清铜蓝蛋白和脑部磁共振成像与WD诊断相符。在进行其他对症治疗和饮食调整的同时开始进行铜螯合治疗。在3个月的随访中,随着其他症状的改善,肌阵挛消失。本病例报告强调肌阵挛可以是WD的主要和首发特征。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed3c/5314857/ddbfc8697114/JPN-11-358-g001.jpg

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