RESUMO
The differential diagnosis of upper extremity mononeuritis multiplex includes neuralgic amyotrophy, vasculitic neuropathy, and Lewis-Sumner syndrome. We describe 3 patients initially suspected of neuralgic amyotrophy, who had an extremely painful, protracted, progressive disease course, not fitting one of these established diagnoses. Nerve ultrasonography showed focal caliber changes of the roots, plexus, and limb nerves. Electromyography showed predominant multifocal axonopathy. Ongoing autoimmune neuropathy was suspected. Steroid treatment provided temporary relief, and intravenous immunoglobulin A sustained pain decrease and functional improvement. These patients appear to have extremely painful axonal inflammatory neuropathy, with a good response to immune-modulating treatment.
Assuntos
Doenças Autoimunes do Sistema Nervoso/diagnóstico , Neurite do Plexo Braquial/diagnóstico , Dor/etiologia , Ultrassonografia/métodos , Extremidade Superior/diagnóstico por imagem , Extremidade Superior/inervação , Idoso , Doenças Autoimunes do Sistema Nervoso/complicações , Doenças Autoimunes do Sistema Nervoso/tratamento farmacológico , Neurite do Plexo Braquial/complicações , Neurite do Plexo Braquial/tratamento farmacológico , Diagnóstico Diferencial , Eletromiografia/métodos , Glucocorticoides/uso terapêutico , Humanos , Imunoglobulinas , Masculino , Pessoa de Meia-Idade , Prednisona/uso terapêuticoRESUMO
Autosomal dominant centronuclear myopathy (CNM) caused by mutations in the gene coding for amphiphysin-2 (BIN1) typically presents in adulthood with progressive muscle weakness. We report a Dutch family with AD CNM due to a novel BIN1 mutation (c.53T>A (p.Val18Glu)), strongly impairing the membrane tubulation activity of amphiphysin-2. The main features were mild proximal weakness with pronounced myalgia, exercise intolerance and large muscle mass, with a childhood onset in the youngest generation and mild cognitive features. This suggests BIN1 mutations should be considered in patients with isolated exercise intolerance and myalgia, even in childhood.
Assuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Mutação , Miopatias Congênitas Estruturais/genética , Proteínas Nucleares/genética , Proteínas Supressoras de Tumor/genética , Idade de Início , Idoso , Criança , Família , Feminino , Genes Dominantes , Humanos , Masculino , Pessoa de Meia-Idade , Miopatias Congênitas Estruturais/epidemiologia , Miopatias Congênitas Estruturais/patologia , FenótipoRESUMO
Progressive supranuclear palsy (PSP) is an atypical parkinsonian disorder that, in spite of its growing recognition, is still underdiagnosed. For management, prognosis, and research, an accurate and early diagnosis is essential. PSP is a relentlessly progressive neurodegenerative disorder, clinically characterized by parkinsonism with prominent axial involvement and postural instability, bulbar symptoms, supranuclear ophthalmoplegia, and executive dysfunction. Abnormal neuronal and glial four-repeat tau aggregations affecting the basal ganglia and selective brainstem structures result in dysfunction of the five frontosubcortical circuits and brainstem functions. Primary therapeutic approaches are based on neurotransmitter replacement and palliative strategies. This article reviews the experience and challenges with neurotransmitter replacement and palliative strategies through an extensive literature search of studies published between 1965 and 2005. The role of and limited experience with alternative therapies, such as deep brain stimulation and pallidotomy, are also discussed. Advances in the development of biological therapies for PSP and a better understanding of its etiopathogenesis will likely result from epidemiologic studies and developed four-repeat tau-transgenic animal models. The management of patients with this disorder poses a considerable challenge and includes symptomatic and palliative strategies, as well as education and support, to improve the quality of life for patients and their caregivers.