Assuntos
Perna (Membro)/diagnóstico por imagem , Neoplasias Pulmonares/complicações , Pulmão/diagnóstico por imagem , Músculo Esquelético/patologia , Tomografia por Emissão de Pósitrons , Neoplasias de Tecidos Moles/secundário , Idoso , Diagnóstico Diferencial , Humanos , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/diagnóstico por imagem , Masculino , Músculo Esquelético/diagnóstico por imagem , Neoplasias de Tecidos Moles/diagnóstico , Neoplasias de Tecidos Moles/diagnóstico por imagemAssuntos
Infartos do Tronco Encefálico/diagnóstico , Carcinoma Broncogênico/diagnóstico , Diplopia/patologia , Imageamento por Ressonância Magnética , Ponte/patologia , Adulto , Infartos do Tronco Encefálico/complicações , Carcinoma Broncogênico/complicações , Diplopia/etiologia , Humanos , Masculino , Exame Físico , Fumar/efeitos adversosAssuntos
Neoplasias de Tecido Nervoso/etiologia , Neoplasias Orbitárias/etiologia , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/complicações , Doença Crônica , Diagnóstico Diferencial , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Neoplasias de Tecido Nervoso/diagnóstico , Neoplasias Orbitárias/diagnóstico , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/diagnósticoAssuntos
Carcinoma Broncogênico/patologia , Neoplasias Pulmonares/patologia , Apoplexia Hipofisária/etiologia , Neoplasias Hipofisárias/secundário , Carcinoma Broncogênico/diagnóstico por imagem , Humanos , Neoplasias Pulmonares/diagnóstico por imagem , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Neoplasias Hipofisárias/complicações , RadiografiaRESUMO
We report the first case of a Chinese family with McLeod syndrome (MLS). The two affected brothers show significant phenotypic heterogeneity. The index case has peripheral acanthocytosis, choreoathetosis of his feet, a slowly progressive neuropathy and myopathy, and an elevated serum creatine kinase (CK) level. His elder brother has more prominent chorea of the shoulders, epilepsy, a rapidly progressive neuropathy and normal serum CK. The diagnosis of MLS was confirmed by a genetic test which showed a hemizygous frameshift mutation in the XK gene.
Assuntos
Povo Asiático/genética , Encéfalo/patologia , Neuroacantocitose/diagnóstico , Diagnóstico Diferencial , Predisposição Genética para Doença , Humanos , Imageamento por Ressonância Magnética , Masculino , Glicoproteínas de Membrana/genética , Glicoproteínas de Membrana/metabolismo , Pessoa de Meia-Idade , Mutação , NADPH Oxidase 2 , NADPH Oxidases/genética , NADPH Oxidases/metabolismo , Neuroacantocitose/genética , Neuroacantocitose/metabolismoAssuntos
Neoplasias do Tronco Encefálico/complicações , Doenças dos Nervos Cranianos/etiologia , Diplopia/etiologia , Perda Auditiva Bilateral/etiologia , Hemangioma Cavernoso do Sistema Nervoso Central/complicações , Espasmo Hemifacial/etiologia , Doença Aguda , Ataxia/etiologia , Neoplasias do Tronco Encefálico/cirurgia , Edema/complicações , Edema/etiologia , Hemangioma Cavernoso do Sistema Nervoso Central/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , SíndromeRESUMO
Herein we summarize the clinical presentation, treatment and outcome of neuro-ophthalmologic manifestations in patients with systemic lupus erythematosus (SLE). We performed a systematic review of the neuro-ophthalmologic manifestations of SLE reported in the English literature from 1970 to 2010 by a Medline search. The prevalence of neuro-ophthalmologic manifestations is 3.6% in adult and 1.6% in childhood SLE patients. Neuro-ophthalmologic manifestations of SLE are highly variable, with the commonest presentation being optic neuritis, followed by myasthenia gravis, visual field defects and pseudotumor cerebri. The underlying pathology was thought to be either SLE activity or its vascular complications. Most neuro-ophthalmologic manifestations of SLE are responsive to high-dose glucocorticoids. Anticoagulation is indicated when there is concomitant antiphospholipid syndrome. SLE-related neuromyelitis optica is often refractory to treatment and 92% of patients require multiple immunosuppressive protocols. Neuro-ophthalmologic manifestations of SLE are uncommon but heterogeneous. The prognosis of neuro-ophthalmologic manifestations in SLE is generally good because of their rapid response to glucocorticoids. Relapses of these manifestations may be reduced by the use of maintenance immunosuppression. Cyclophosphamide, azathioprine, plasmapheresis, intravenous immunoglobulin and rituximab can be considered in glucocorticoid-dependent or refractory cases. Anticoagulation is indicated when there is concomitant antiphospholipid syndrome.
Assuntos
Lúpus Eritematoso Sistêmico/complicações , Vasculite Associada ao Lúpus do Sistema Nervoso Central/etiologia , Miastenia Gravis/etiologia , Neurite Óptica/etiologia , Pseudotumor Cerebral/etiologia , Transtornos da Visão/etiologia , Anticoagulantes/uso terapêutico , Glucocorticoides/uso terapêutico , Humanos , Imunossupressores/uso terapêutico , Lúpus Eritematoso Sistêmico/diagnóstico , Lúpus Eritematoso Sistêmico/terapia , Vasculite Associada ao Lúpus do Sistema Nervoso Central/diagnóstico , Vasculite Associada ao Lúpus do Sistema Nervoso Central/terapia , Miastenia Gravis/diagnóstico , Miastenia Gravis/terapia , Neurite Óptica/diagnóstico , Neurite Óptica/terapia , Plasmaferese , Pseudotumor Cerebral/diagnóstico , Pseudotumor Cerebral/terapia , Recidiva , Resultado do Tratamento , Transtornos da Visão/diagnóstico , Transtornos da Visão/terapia , Campos VisuaisAssuntos
Síndrome de Churg-Strauss/complicações , Oclusão da Artéria Retiniana/etiologia , Biópsia , Síndrome de Churg-Strauss/imunologia , Síndrome de Churg-Strauss/patologia , Síndrome de Churg-Strauss/terapia , Humanos , Imunossupressores/uso terapêutico , Masculino , Pessoa de Meia-Idade , Paracentese , Recuperação de Função Fisiológica , Oclusão da Artéria Retiniana/imunologia , Oclusão da Artéria Retiniana/patologia , Oclusão da Artéria Retiniana/fisiopatologia , Oclusão da Artéria Retiniana/terapia , Resultado do Tratamento , Acuidade VisualRESUMO
BACKGROUND AND PURPOSE: Concurrent atherosclerosis of the intracranial and extracranial cerebrovascular system is common in Asians. The typical lesion patterns and the mechanisms of stroke in patients with concurrent stenoses are unclear. This study aimed to determine these stroke features of such patients in Hong Kong. METHODS: We conducted a cross-sectional cohort study in a university hospital from January 2002 to December 2003. Consecutive Chinese patients with acute ischemic stroke underwent CT brain, MRI brain (with MR angiography and diffusion-weighted imaging sequences), and carotid duplex. RESULTS: In total, 251 patients were included in the analysis. Of these, 109 (43%) had concurrent stenoses. Patients who had concurrent stenoses, as compared with those without concurrent stenoses, had more symptomatic stenoses (84% versus 58%; OR, 4.0; 95% CI, 2.1 to 7.3; P<0.001), more concomitant perforating artery infarct, pial infarct, and borderzone infarct (14% versus 4%; OR, 3.6; 95% CI, 1.4 to 9.7; P=0.007), more multiple diffusion-weighted imaging lesions (55% versus 37%; OR, 2.1; 95% CI, 1.3 to 3.4; P=0.005), and more infarcts in the territory of the leptomeningeal branches of middle cerebral artery (26% versus 13%; OR, 2.2; 95% CI, 1.2 to 4.3; P=0.01). In multivariate regression analysis, smoking; prior stroke; the presence of concomitant pial infarct, pial infarct, and borderzone infarcts; multiple diffusion-weighted imaging lesions; and symptomatic stenoses were significantly associated with concurrent stenoses. Among patients with concurrent stenoses, those who had tandem lesions, as compared with those who had nontandem lesions, had more perforating artery infarct and borderzone infarcts (27% versus 8%; OR, 4.3; 95% CI, 0.9 to 19.8; P=0.04); more concomitant pial infarct, pial infarct, and borderzone infarcts (18% versus 0%; P=0.02), and more multiple diffusion-weighted imaging lesions (65% versus 23%; OR, 6.2; 95% CI, 2.2 to 17.2; P<0.001). Infarcts in the territory of middle cerebral artery leptomeningeal branches and symptomatic stenoses were more common in patients with tandem lesions. CONCLUSIONS: Concomitant perforating artery infarct, pial infarct, and borderzone infarcts; multiple diffusion-weighted imaging lesions, and infarcts in the leptomeningeal branches of the middle cerebral artery were more common in patients with concurrent stenoses, especially those with tandem lesions. This study suggested that the combination of hemodynamic compromise attributable to concurrent stenoses and artery-to-artery embolization is a common stroke mechanism in these patients.