RESUMO
A 32-year-old woman with a 4-year history of multiple sclerosis presented with persistent clawing of the right hand. History revealed that she and five family members had lifelong symptoms of paradoxical myotonia (impaired relaxation of muscles following muscle contraction), exacerbated by cold. The family was diagnosed with paramyotonia congenita, based on neurophysiological and genetic studies. To our knowledge, this is the first report of an Australian family with paramyotonia congenita.
Assuntos
Transtornos Miotônicos/genética , Linhagem , Canais de Sódio/genética , Adulto , Feminino , Humanos , Mutação , Transtornos Miotônicos/diagnóstico , Transtornos Miotônicos/fisiopatologia , Canal de Sódio Disparado por Voltagem NAV1.4 , Canais de Sódio/fisiologiaRESUMO
Multimodal representation of peripersonal or near space has been demonstrated in the brain of the nonhuman primate through invasive electrophysiological experiments. Representation of peripersonal space in the human brain has been inferred from extinction experiments and functional imaging studies. We present a unique case of lower limb myoclonus in a patient with common variable immunodeficiency which is sensitive to visual stimuli in the peripersonal space and light touch. This case provides further evidence for near space representation in the human brain. We hypothesize that somatopically organized multimodal areas exist in the human brain which code for peripersonal space.
Assuntos
Córtex Cerebral/fisiopatologia , Mioclonia/diagnóstico , Mioclonia/fisiopatologia , Estimulação Luminosa/métodos , Percepção Espacial , Percepção Visual/fisiologia , Córtex Cerebral/patologia , Eletroencefalografia , Eletromiografia , Potenciais Somatossensoriais Evocados/fisiologia , Feminino , Humanos , Imageamento por Ressonância Magnética , Músculo Esquelético/inervação , Índice de Gravidade de Doença , Adulto JovemRESUMO
We describe an unusual form of facial myoclonus activated by speech in 3 patients with different underlying neurological diseases and present the electrophysiological investigations and results of structural and functional imaging. In 1 of 2 patients in whom jerk-locked electroencephalogram (EEG) back-averaging was done, a cortical potential clearly preceded the facial jerks. In the second patient, a cortical potential preceding the jerk was not certain. In the third patient, the resting EEG contained outbursts of symmetric, slower frequencies of indeterminate significance. An epileptiform disorder was suspected in this patient.
Assuntos
Face/inervação , Músculos Faciais/inervação , Músculos Faciais/fisiopatologia , Mioclonia/diagnóstico , Mioclonia/etiologia , Fala/fisiologia , Adulto , Idoso , Doença de Alzheimer/epidemiologia , Doença de Alzheimer/patologia , Doença de Alzheimer/fisiopatologia , Encéfalo/metabolismo , Encéfalo/patologia , Encéfalo/fisiopatologia , Ventrículos Cerebrais/patologia , Ventrículos Cerebrais/fisiopatologia , Eletroencefalografia , Eletromiografia , Potenciais Somatossensoriais Evocados/fisiologia , Feminino , Humanos , Masculino , Mioclonia/fisiopatologia , Lobo Parietal/metabolismo , Lobo Parietal/patologia , Lobo Parietal/fisiopatologia , Tomografia por Emissão de Pósitrons , Esquizofrenia/epidemiologia , Esquizofrenia/patologia , Esquizofrenia/fisiopatologia , Tomografia Computadorizada de Emissão de Fóton Único , Comportamento VerbalRESUMO
The treatment of massive pulmonary embolus remains controversial. We describe the first report of the successful use of the thrombolytic agent, tenecteplase, in treating a hypotensive elderly patient with a saddle embolus. A brief review of the current literature concerning thrombolysis for massive pulmonary embolus is given.
