Small fiber dysfunction in patients with Wilson's disease

• Main Authors: Francisco de Assis A. Gondim, Davi F. Araújo, Ítalo S. Oliveira, Otoni Cardoso do Vale
• Format: Article
• Language: English
• Published: Academia Brasileira de Neurologia (ABNEURO) 2014-08-01
• Series: Arquivos de Neuro-Psiquiatria
• Subjects: doenças do sistema nervoso autônomo; neuropatia de pequenas fibras; doença de Wilson
• Online Access: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2014000800592&lng=en&tlng=en

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).