RESUMO
Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P), or, Okinawa type, is a rare neuromuscular disorder characterized by proximal dominant neurogenic atrophy and distal sensory alterations with an autosomal dominant inheritance pattern. We present a case of a Brazilian woman of Okinawan ancestry, with symmetrical proximal weakness, fasciculations, absent patellar reflexes and positive familial history for the same symptoms. These findings led to genetic testing, which identified a variant in the TFG gene (c.854â¯C>T;p.(Pro285Leu), confirming the diagnosis of HMSN-P. HMSN-P seemed to be restricted to populations in Okinawa, however, other HMSN-P cases were described in several parts of the world, especially in South America. This case report emphasizes the importance of considering HMSN-P in patients presenting with clinical features resembling proximal myopathy, especially in individuals with Okinawan ancestry.
Assuntos
Neuropatia Hereditária Motora e Sensorial , Doenças Musculares , Feminino , Humanos , Neuropatia Hereditária Motora e Sensorial/diagnóstico , Neuropatia Hereditária Motora e Sensorial/genética , Brasil , Povo Asiático , LinhagemRESUMO
OBJECTIVE: To assess the impact of averaging multiple MUNIX trials on the follow-up of patients with amyotrophic lateral sclerosis (ALS). METHODS: We determined the percent relative change (%RC) of MUNIX, in healthy subjects and patients with ALS, by subtracting the MUNIX value in the second visit from the first. Both the mean of a set of three MUNIX (mean-MUNIX) and the first MUNIX sample (single-MUNIX) were evaluated. Then, we studied the sensitivity to detect relative changes over time and the statistical dispersion of the %RC from these two parameters. RESULTS: We found that the mean-MUNIX %RC has lower mean coefficient of variation than the single-MUNIX %RC in all muscles. The mean-MUNIX also resulted in more ALS patients with significant %RC, i.e., outside reference limits. CONCLUSION: The mean-MUNIX resulted in less dispersed values of %RC in patients with ALS and thus, increased the precision of the technique. The mean-MUNIX resulted also in an increase in the sensitivity to track changes over time in these patients. SIGNIFICANCE: The mean-MUNIX should be considered in any ALS follow-up study as a more reliable approach and as a way of potentially reducing the sample size needed for the study.
Assuntos
Esclerose Lateral Amiotrófica/diagnóstico , Esclerose Lateral Amiotrófica/fisiopatologia , Neurônios Motores/fisiologia , Recrutamento Neurofisiológico/fisiologia , Adulto , Idoso , Feminino , Seguimentos , Humanos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Estudos ProspectivosAssuntos
Proteínas de Transporte de Cátions/genética , Intoxicação por Manganês/genética , Idade de Início , Encéfalo/patologia , Feminino , Fibrose/etiologia , Transtornos Neurológicos da Marcha/etiologia , Humanos , Ferro/uso terapêutico , Imageamento por Ressonância Magnética , Manganês/sangue , Intoxicação por Manganês/patologia , Mutação , Doenças do Sistema Nervoso/etiologia , Exame Neurológico , Policitemia/etiologia , Adulto Jovem , Transportador 8 de ZincoRESUMO
Movement disorders have been increasingly recognized in patients with HIV infection and may be due to distinct causes, as opportunistic infections or medication side effects for example. Parkinsonism, tremor and hemichorea have been more frequently noted in association with HIV and opportunistic infections. However, a variety of involuntary movements have already been described. We report a case of neurotoxoplasmosis in a patient with HIV infection who presented with a dystonic tic involving ocular, oral and cervical movements.
Assuntos
Infarto Encefálico/diagnóstico , Distonia/diagnóstico , Tálamo/irrigação sanguínea , Tálamo/patologia , Adulto , Infarto Encefálico/complicações , Infarto Encefálico/patologia , Circulação Cerebrovascular/fisiologia , Diagnóstico Diferencial , Disartria/complicações , Disartria/diagnóstico , Distonia/complicações , Distonia/fisiopatologia , Feminino , Humanos , Imageamento por Ressonância Magnética , Postura/fisiologiaRESUMO
BACKGROUND: Transient imaging abnormalities, including changes on diffusion-weighted imaging (DWI), may be seen in status epilepticus. These abnormalities can be followed by hippocampal sclerosis. CASE REPORT: We report a 15-year-old lady with focal non convulsive status epilepticus (NCSE) and focal slowing on EEG. DWI exhibited abnormal hyperintense signals in bilateral temporal and insular cortices. After 3 weeks, MRI performed a localizated hippocampal atrophy. CONCLUSION: The MRI findings indicated vasogenic and cytotoxic edema during seizure activity and subsequent loss of brain parenchyma.
INTRODUÇÃO: Anormalidades transitórias de imagem, incluindo imagens de ressonância magnética por difusão (DWI), podem ser vistas no status epilepticus. Essas anormalidades podem ser seguidas de esclerose hipocampal. RELATO DE CASO: Nós relatamos uma jovem de 15 anos com status focal não convulsivo e lentificação focal no EEG. DWI mostrava sinal hiperintenso em regiões temporais bilaterais e córtex insular. Após 3 semanas, RM de encéfalo mostrava atrofia localizada do hipocampo. CONCLUSÃO: Os achados de RM indicam edema vasogênico e citotóxico durante as crises epilépticas com subseqüente atrofia de parênquima cerebral.
Assuntos
Adolescente , Feminino , Humanos , Hipocampo/patologia , Estado Epiléptico/patologia , Atrofia/patologia , Imagem de Difusão por Ressonância Magnética , Eletroencefalografia , Esclerose/complicações , Esclerose/patologia , Estado Epiléptico/complicaçõesRESUMO
BACKGROUND: Transient imaging abnormalities, including changes on diffusion-weighted imaging (DWI), may be seen in status epilepticus. These abnormalities can be followed by hippocampal sclerosis. CASE REPORT: We report a 15-year-old lady with focal non convulsive status epilepticus (NCSE) and focal slowing on EEG. DWI exhibited abnormal hyperintense signals in bilateral temporal and insular cortices. After 3 weeks, MRI performed a localizated hippocampal atrophy. CONCLUSION: The MRI findings indicated vasogenic and cytotoxic edema during seizure activity and subsequent loss of brain parenchyma.