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 levodoparesponsive 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).Keywords: autonomic nervous system diseases, small fiber neuropathy, Wilson's disease. RESUMOObjetivo: Pacientes com doença de Wilson (DW) podem desenvolver uma ampla variedade de sintomas neuropsiquiátricos, mas existem poucos relatos de disfunção autonômica. Aqui, nós descrevemos evidência de disfunção de fibras finas/autonômica em 4 pacientes com DW e parkinsonismo responsivo à levodopa. Método: Nós revisamos os prontuários de 4 pacientes com DW que foram submetidos a avaliação neuromuscular e ao teste de quantificação do enrugamento cutâneo (TEC). Resultados: Dois homens e 2 mulheres (33±3,5 anos) com DW foram avaliados. Todos apresentaram parkinsonismo durante o curso de sua doença. Parkinsonismo no paciente 4 quase completamente desapareceu com tratamento da DW. Dois pacientes apresentaram queixas sensitivas e 2 apresentaram queixas autonômicas significativas incluindo episódios de síncope. Eletroneuromiografia foi normal em todos e TEC foi anormal em metade deles (score do TEC nos 4 dedos de 0,25 e 1). Discussão: Um subgrupo de pacientes com DW apresenta evidência de TEC anormal (neuropatia de fibras finas).Palavras-chave: doenças do sistema nervoso autônomo, neuropatia de pequenas fibras, doença de Wilson.

There is accumulating evidence on the prognostic implications of various rhythmic and periodic patterns in the critically ill population. These patterns are not only associated with increased seizure risk but have also been associated with worse outcome and increased long-term risk of epilepsy in recent studies. There is emerging evidence suggesting that certain EEG features as well as ancillary studies including serum, neuroimaging, and invasive multimodality monitory can assist in the risk stratification of neuronal injury associated with these patterns, allowing for a targeted approach to these patterns. We present a case illustrating the clinical nuances of these patterns. We propose an algorithm for a personalized and targeted approach to ictal interictal patterns based on risk stratification according to clinical, EEG, imaging, and invasive monitoring markers.

BackgroundRecent studies have reported that peripheral neuropathy (PN) is common in patients with Parkinson’s disease (PD) and raised the possibility that levodopa neurotoxicity is the main culprit.MethodsWe evaluated the presence of large & small (autonomic) fiber PN in 54 consecutive patients with PD or parkinsonism in a tertiary outpatient clinic from Brazil. Initial PN screening consisted of history/neurological exam and skin wrinkling test (SWT). In addition, we also performed Nerve conduction studies/Electromyography (NCS/EMG) in all patients with PN signs/symptoms and/or abnormal SWT.ResultsThirty eight patients with PD (10 women, mean age: 63 ± 2.1 years, P < 0.05 versus parkinsonism, mean disease duration: 8 ± 0.8 years) and 16 patients with other forms of parkinsonism [7 women, mean age: 50.1 ± 3.9 years, mean disease duration: 6.9 ± 1.1 years] completed clinical neuromuscular evaluation. SWT was performed in 48 patients (33 PD, 15 parkinsonism). In the PD group, SWT was abnormal in 57.6 % of the tested patients (comprising 50 % of all PD patients). In the parkinsonism group, SWT was abnormal in 37.5 % (comprising 35.3 % of all parkinsonism patients). NCS/EMG was performed in 39 patients (26 PD and 13 parkinsonism). Twelve out of the 26 PD (34.2 % of all PD) and 4 out of the 13 parkinsonism (23.5 % of all parkinsonism) had abnormal NCS/EMG results. Neuropathy prevalence was similar in PD and parkinsonism groups as detected either by NCS/EMG or SWT.ConclusionsLarge fiber and small (autonomic) fiber PN are common in patients with PD and parkinsonism. The etiology for the neuropathy was likely to be multifactorial and may be secondary to PD itself.Electronic supplementary materialThe online version of this article (doi:10.1186/s12883-016-0667-3) contains supplementary material, which is available to authorized users.

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Purpose: Acute reversal of vision metamorphopsia (RVM) is a rare, paroxysmal, sudden and transient vertical inversion of vision, also known as floor-on-the-ceiling phenomenon. Its pathogenesis is uncertain, but it may due to transient impairment of vestibular projections to the parietal lobes. Case description: Here we present a case of a 60 year-old man with a right paramedian pontine stroke developed episodes of upside-down reversal of vision during transition from awake to sleep time (hypnagogic acute reversal of vision metamorphopsia) that subsided after treatment with gabapentin.

Introdução. A Doença de Charcot-Marrie-Tooth (CMT) compre­ende um grupo geneticamente heterogêneo de neuropatias sensitivo­-motoras hereditárias autossômicas dominantes, recessivas e ligadas ao cromossomo X. Objetivo. O objetivo do presente trabalho é realizar uma revisão de literatura a respeito dos principais tipos de CMT4 (va­riantes desmielinizantes autossômicas recessivas de CMT). Método. Foi realizada uma ampla revisão de literatura buscando artigos origi­nais em inglês (ou pelo menos com resumo em inglês), com descrição das características clínicas, distribuição étnica e geográfica das diversas variantes de CMT4 através das ferramentas OMIM e pubmed da base de dados da NCBI. Resultados. Identificamos e descrevemos os genes, características clínicas, distribuição étnica e geográfica de 12 variantes de CMT4: A, B1, B2, B3, C, D, E, F, G, H, J e “L” (mutação do gene SURF, com nomenclatura ainda indefinida e aqui chamada de “CMT4L”). Conclusão. Conclui-se que CMT4, dada à herança au­tossômica recessiva, distribui-se mais comumente em grupos étnicos e regiões geográficas restritas, ao contrário dos outros subtipos de CMT. Apesar de extrema variabilidade, há tendência à presença de fenótipos de maior gravidade e sobreposição com as doenças de Déjèrine-Sottas (CMT3) e neuropatia hipomielinizante congênita (CHN).