RESUMO
We report four Brazilian siblings with Autosomal Dominant Hereditary Motor Sensory Neuropathy with Proximal Dominant Involvement (HMSN-P), a rare form of HMSN, that was characterized by proximal dominant muscle weakness and atrophy onset after the age of 30 years, fasciculation, arreflexia and sensory disturbances with autosomal dominant inheritance. Electrophysiological study and sural nerve biopsy were in the accordance with axonal sensory motor polyneuropathy and laboratorial analysis disclosed serum lipids and muscle enzymes abnormalities. Our report is the first done by a group outside Japan, where the disease initially seemed to be restricted and stressed the phenotypic variability from the original report.
Assuntos
Neuropatia Hereditária Motora e Sensorial/diagnóstico , Linhagem , Irmãos , Nervo Sural/patologia , Povo Asiático , Biópsia , Brasil , Eletromiografia , Neuropatia Hereditária Motora e Sensorial/genética , Neuropatia Hereditária Motora e Sensorial/patologia , Humanos , Masculino , Pessoa de Meia-Idade , FenótipoRESUMO
We report four Brazilian siblings with Autosomal Dominant Hereditary Motor Sensory Neuropathy with Proximal Dominant Involvement (HMSN-P), a rare form of HMSN, that was characterized by proximal dominant muscle weakness and atrophy onset after the age of 30 years, fasciculation, arreflexia and sensory disturbances with autosomal dominant inheritance. Electrophysiological study and sural nerve biopsy were in the accordance with axonal sensory motor polyneuropathy and laboratorial analysis disclosed serum lipids and muscle enzymes abnormalities. Our report is the first done by a group outside Japan, where the disease initially seemed to be restricted and stressed the phenotypic variability from the original report.
Relatamos os casos de quatro irmãos brasileiros com Neuropatia Sensitivo Motora Hereditária com Envolvimento Proximal Dominante (HMSN-P), uma forma rara de HMSN caracterizada por fraqueza muscular de predomínio proximal e atrofia de instalação após os 30 anos, fasciculações, arreflexia, distúrbios sensitivos e padrão de herança autossômica dominante. Os estudos eletrofisiológicos e de biópsia do nervo sural confirmaram o diagnóstico de polineuropatia sensitivo-motora com padrão lesional axonal. Laboratorialmente foram constatadas anormalidades séricas no metabolismo lipídico e enzimas musculares. Nosso relato é o primeiro feito por um grupo fora do Japão, onde a doença parecia restrita até então e ressalta a variabilidade fenotípica apresentada nos casos Brasileiros.
Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Neuropatia Hereditária Motora e Sensorial/diagnóstico , Linhagem , Irmãos , Nervo Sural/patologia , Povo Asiático , Biópsia , Brasil , Eletromiografia , Neuropatia Hereditária Motora e Sensorial/genética , Neuropatia Hereditária Motora e Sensorial/patologia , FenótipoRESUMO
Os autores descrevem caso de paciente do sexo feminino, com 23 anos de idade, submetida à cirurgia do joelho para realinhamento patelar com uso de garrote pneumático e que desenvolveu neurapraxia femoral. Faz-se breve revisão da literatura sobre as vantagens e desvantagens do uso do garrote em cirurgias do joelho e discute-se a necessidade da sua indicação, considerando-se as complicações acarretadas por seu uso incorreto.
The authors describe the case of a 27 year-old female patient submitted to knee surgery for patellar realignment with the use of a pneumatic tourniquet, who developed femoral neurapraxia. They make a brief literature review about the advantages and disadvantages of using a tourniquet in knee surgeries, and discuss the need for tourniquet indication considering the complications entailed by the incorrect use of the tourniquet.
Assuntos
Humanos , Feminino , Adulto , Nervo Femoral/lesões , Neuropatia Femoral/etiologia , Torniquetes/efeitos adversosRESUMO
Spinal myoclonus is a rare movement disorder characterized by myoclonic involvement of a group of muscles supplied by a few contiguous segments of the spinal cord. Structural lesions are usually the cause, but in primary spinal myoclonus the etiology remains unknown. We present the case of a 26-year-old woman with cervical spinal myoclonus in which both clinical and electromyographic findings pointed to the segment C1-C3 as the origin of the myoclonus. Laboratorial examinations were normal and no structural lesion was found in magnetic resonance imaging (MRI). Botulinum toxin type A was injected in infrahyoid muscles and cervical paraspinal musculature. The patient remained free of symptoms for almost five months. The pathophysiology of spinal myoclonus remains speculative, but there is evidence that various possible mechanisms can be involved: loss of inhibitory function of local dorsal horn interneurons, abnormal hyperactivity of local anterior horn neurons, aberrant local axons re-excitations and loss of inhibition from suprasegmentar descending pathways.
Assuntos
Mioclonia/etiologia , Traumatismos da Medula Espinal/complicações , Adulto , Toxinas Botulínicas Tipo A/uso terapêutico , Feminino , Humanos , Injeções Intramusculares , Imageamento por Ressonância Magnética , Mioclonia/tratamento farmacológico , Mioclonia/fisiopatologia , Fármacos Neuromusculares/uso terapêutico , Traumatismos da Medula Espinal/fisiopatologiaRESUMO
Spinal myoclonus is a rare movement disorder characterized by myoclonic involvement of a group of muscles supplied by a few contiguous segments of the spinal cord. Structural lesions are usually the cause, but in primary spinal myoclonus the etiology remains unknown. We present the case of a 26-year-old woman with cervical spinal myoclonus in which both clinical and electromyographic findings pointed to the segment C1-C3 as the origin of the myoclonus. Laboratorial examinations were normal and no structural lesion was found in magnetic resonance imaging (MRI). Botulinum toxin type A was injected in infrahyoid muscles and cervical paraspinal musculature. The patient remained free of symptoms for almost five months. The pathophysiology of spinal myoclonus remains speculative, but there is evidence that various possible mechanisms can be involved: loss of inhibitory function of local dorsal horn interneurons, abnormal hyperactivity of local anterior horn neurons, aberrant local axons re-excitations and loss of inhibition from suprasegmentar descending pathways
Assuntos
Humanos , Feminino , Adulto , Mioclonia , Traumatismos da Medula Espinal , Toxinas Botulínicas Tipo A , Injeções Intramusculares , Imageamento por Ressonância Magnética , Mioclonia , Fármacos Neuromusculares , Traumatismos da Medula EspinalRESUMO
OBJECTIVE: To analyze the usefulness of magnetic resonance imaging MRI and electroneuromyography (ENMG) in the diagnosis of schistosomiasis of the spinal cord (SSC). METHOD: 18 MRI of the thoracolumbar spine and 24 ENMG of the upper and lower limbs were carried out on patients with a definite diagnosis of SSC in the clinical forms of myeloradiculitis or thoracic transverse myelitis. RESULTS: Of the 18 MRI carried out, 16 (88.8%) showed abnormalities on T1 and T2 weighted images and heterogenous pattern of enhancement with contrast material injection. Of the 24 ENMG, 23 (95.8%) showed a feature of bilateral multiradiculopathy of roots L2, L3, L4, L5, S1, S2, asymmetric in 10 cases (41.6%), characterized by signs of denervation in the lumbar paraspinal musculature and long duration polyphasic potentials in increased proportion, as well decrease of the recruitment of motor units. CONCLUSION: In spite of the non-specificity of both exams, the MRI and the ENMG showed to be useful for the diagnosis of SSC, by revealing abnormalities that repeated in 88.8% and 95.8% of the cases, respectively.
Assuntos
Eletromiografia , Imageamento por Ressonância Magnética , Esquistossomose mansoni/diagnóstico , Doenças da Medula Espinal/diagnóstico , Adolescente , Adulto , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Mielite/diagnóstico , Mielite/parasitologia , Esquistossomose mansoni/parasitologia , Doenças da Medula Espinal/parasitologiaRESUMO
OBJETIVO: Analisar os resultados obtidos pela ressonância magnética (RM) e eletroneuromiografia (ENMG) em pacientes com diagnóstico de esquistossomose medular (EM). MÉTODO: Foram analisadas 18 RM da coluna vertebral tóraco-lombar e 24 ENMG dos membros superiores e inferiores de pacientes com diagnóstico definido ou altamente provável de EM nas suas formas clínicas mielorradiculítica e mielítica. RESULTADOS: Entre as 18 RM realizadas, 16 (88,8 por cento), mostraram alteraçöes caracterizadas por imagens hipointensas em aquisiçöes pesadas em T1, hiperintensas em T2, com captaçäo heterogênea do contraste gadolínico e/ou realce das meninges e cauda equina. Entre as 24 ENMG, 23 (95,8 por cento) mostraram quadro de multirradiculopatia bilateral das raízes nervosas L2, L3, L4, L5, S1, S2, assimétrico em 10 casos (41,6 por cento). CONCLUSÄO: A RM e a ENM demonstraram ser exames úteis para o diagnóstico da EM ao revelarem anormalidades que se repetiram sob um determinado padräo em 88,8 por cento e 95,8 por cento dos casos, respectivamente. Apesar de näo terem especificidade para a EM, estes procedimentos devem ser realizados rotineiramente com o objetivo de fortalecer o diagnóstico presuntivo desta doença