威尔逊病患者的小纤维功能障碍

Small fiber dysfunction in patients with Wilson's disease.

作者信息

Gondim Francisco de Assis A, Araújo Davi F, Oliveira Italo S, Vale Otoni Cardoso do

机构信息

Departamento de Medicina Clínica, Serviço de Neurologia, Universidade Federal do Ceará, Fortaleza, CE, Brazil.

Universidade Federal do Ceará, Fortaleza, CE, Brazil.

出版信息

Arq Neuropsiquiatr. 2014 Aug;72(8):592-5. doi: 10.1590/0004-282x20140090. Epub 2014 Jul 4.

DOI:10.1590/0004-282x20140090

PMID:25003396

Abstract

OBJECTIVE

Patients with Wilson's disease (WD) may develop a wide variety of neuropsychiatric symptoms, but there are few reports of autonomic dysfunction. Here, we described evidence of small fiber and/or autonomic dysfunction in 4 patients with WD and levodopa-responsive parkinsonism.

METHOD

We reviewed the charts of 4 patients with WD who underwent evaluation for the presence of neuromuscular dysfunction and water-induced skin wrinkling test (SWT).

RESULTS

Two men and 2 women (33±3.5 years) with WD were evaluated. They all had parkinsonism at some point during their disease course. Parkinsonism on patient 4 almost completely subsided with treatment of WD. Two patients had significant sensory and 2 significant autonomic complaints, including syncopal spells. NCS/EMG was normal in all but SWT was abnormal in half of them (mean 4-digit wrinkling of 0.25 and 1).

DISCUSSION

A subset of patients with WD exhibit evidence of abnormal skin wrinkling test (small fiber neuropathy).

摘要

目的

威尔逊病（WD）患者可能出现各种各样的神经精神症状，但关于自主神经功能障碍的报道较少。在此，我们描述了4例WD合并左旋多巴反应性帕金森综合征患者存在小纤维和/或自主神经功能障碍的证据。

方法

我们回顾了4例接受神经肌肉功能障碍评估及水诱发皮肤皱纹试验（SWT）的WD患者的病历。

结果

对2名男性和2名女性（33±3.5岁）WD患者进行了评估。他们在病程中的某些时候均出现过帕金森综合征。患者4的帕金森综合征在WD治疗后几乎完全消退。2例患者有明显的感觉症状，2例有明显的自主神经症状，包括晕厥发作。除1例患者外，其余患者的神经传导速度/肌电图均正常，但其中一半患者的SWT异常（平均四位数皱纹值为0.25和1）。