Small fiber dysfunction in patients with Wilson's disease

ABSTRACTObjective: Patients with Wilson’s disease (WD) may develop a wide variety of neuropsychiatric symptoms, but there are few reports ofautonomic 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 ofneuromuscular dysfunction and water-induced skin wrinkling test (SWT). Results: Two men and 2 women (33±3.5 years) with WD wereevaluated. They all had parkinsonism at some point during their disease course. Parkinsonism on patient 4 almost completely subsidedwith treatment of WD. Two patients had significant sensory and 2 significant autonomic complaints, including syncopal spells. NCS/EMGwas 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 WDexhibit evidence of abnormal skin wrinkling test (small fiber neuropathy).Keywords: autonomic nervous system diseases, small fiber neuropathy, Wilson’s disease.RESUMOObjetivo: Pacientes com doenca de Wilson (DW) podem desenvolver uma ampla variedade de sintomas neuropsiquiatricos, mas existempoucosrelatosdedisfuncao autonomica.Aqui,nosdescrevemos evidenciadedisfuncaodefibras finas/autonomicaem4pacientescomDWe parkinsonismo responsivo a levodopa. Metodo: Nos revisamos os prontuarios de 4 pacientes com DW que foram submetidos a avaliacaoneuromuscular e ao teste de quantificacao do enrugamento cutâneo (TEC). Resultados: Dois homens e 2 mulheres (33±3,5 anos) com DWforam avaliados. Todos apresentaram parkinsonismo durante o curso de sua doenca. Parkinsonismo no paciente 4 quase completamentedesapareceu com tratamento da DW. Dois pacientes apresentaram queixas sensitivas e 2 apresentaram queixas autonomicas significativasincluindo episodios de sincope. Eletroneuromiografia foi normal em todos e TEC foi anormal em metade deles (score do TEC nos 4 dedos de0,25 e 1). Discussao: Um subgrupo de pacientes com DW apresenta evidencia de TEC anormal (neuropatia de fibras finas).Palavras-chave: doencas do sistema nervoso autonomo, neuropatia de pequenas fibras, doenca de Wilson.