Assuntos
Coreia/diagnóstico , Adulto , Coreia/tratamento farmacológico , Coreia/genética , Coreia/terapia , Feminino , Humanos , Hidroxiureia/uso terapêutico , Janus Quinase 2/genética , Imageamento por Ressonância Magnética , Mutação , Inibidores da Síntese de Ácido Nucleico/uso terapêutico , FlebotomiaRESUMO
Background: Cerebrotendinous xanthomatosis is a rare autosomal recessive neurometabolic disorder characterized by chronic diarrhea, tendon xanthomas, juvenile cataracts, and neurological symptoms. Case Report: An adult patient with cerebrotendinous xanthomatosis exhibited ataxia and palatal tremor in the absence of tendon xanthomas and cataracts. Discussion: The importance of this case resides on the fact that cerebrotendinous xanthomatosis should be considered as a possible etiology of the syndrome of progressive ataxia with palatal tremor, even in the absence of tendon xanthomas and cataracts. Early diagnosis is critical to the institution of specific treatment with chenodeoxycholic acid.
Assuntos
Ataxia/diagnóstico , Ataxia/etiologia , Tremor/diagnóstico , Tremor/etiologia , Xantomatose Cerebrotendinosa/complicações , Xantomatose Cerebrotendinosa/diagnóstico , Adulto , Ataxia/tratamento farmacológico , Diagnóstico Diferencial , Feminino , Humanos , Tremor/tratamento farmacológico , Xantomatose Cerebrotendinosa/tratamento farmacológicoRESUMO
Early recognition and prompt specific treatment are crucial factors influencing the outcome of patients with acute encephalitis. The aim of this study was to determine the main causes of acute encephalitis in our population and to find predictors that may lead to specific diagnosis. Adult patients admitted to our hospital with suspected diagnosis of encephalitis in the period 2006-2013 were included. One hundred and five medical records were analyzed. Eighty-two patients with infectious encephalitis were identified (78% of total cases), 53 (65%) men and 29 (35%) women, mean age 47.8 years. The most common microorganisms identified were: HSV-1 (11%), VZV (10%), HSV-2 (5%) and EBV (5%). Twenty-three patients (22% of the series) had non-infectious encephalitis. Headache (p < 0.0001) and fever (p = 0.008) were more frequent in encephalitis of infectious origin. Protein levels and white blood cell counts in the cerebrospinal fluid were significantly higher in patients affected by infectious encephalitis than in those affected by noninfectious encephalitis (OR 95% CI 12.3 [2.9-51.7] and OR 95% CI 7.4 [2-27], respectively). Identifying specific causal agents of acute encephalitis remains a major challenge. Cerebrospinal fluid markers, as well as specific clinical findings, may however contribute to initial differentiation between infectious and noninfectious causes.
Assuntos
Encefalite/líquido cefalorraquidiano , Encefalite/diagnóstico , Encefalite Infecciosa/líquido cefalorraquidiano , Encefalite Infecciosa/diagnóstico , Adolescente , Adulto , Idoso , Anti-Infecciosos/uso terapêutico , Anticorpos , Antivirais/uso terapêutico , Diferenciação Celular , Líquido Cefalorraquidiano , Diagnóstico Diferencial , Diagnóstico Precoce , Encefalite/tratamento farmacológico , Encefalite Viral/líquido cefalorraquidiano , Encefalite Viral/diagnóstico , Encefalite Viral/tratamento farmacológico , Feminino , Humanos , Encefalite Infecciosa/tratamento farmacológico , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Prognóstico , Estudos Retrospectivos , Adulto JovemRESUMO
Early recognition and prompt specific treatment are crucial factors influencing the outcome of patients with acute encephalitis. The aim of this study was to determine the main causes of acute encephalitis in our population and to find predictors that may lead to specific diagnosis. Adult patients admitted to our hospital with suspected diagnosis of encephalitis in the period 2006-2013 were included. One hundred and five medical records were analyzed. Eighty-two patients with infectious encephalitis were identified (78% of total cases), 53 (65%) men and 29 (35%) women, mean age 47.8 years. The most common microorganisms identified were: HSV-1 (11%), VZV (10%), HSV-2 (5%) and EBV (5%). Twenty-three patients (22% of the series) had non-infectious encephalitis. Headache (p < 0.0001) and fever (p = 0.008) were more frequent in encephalitis of infectious origin. Protein levels and white blood cell counts in the cerebrospinal fluid were significantly higher in patients affected by infectious encephalitis than in those affected by noninfectious encephalitis (OR 95% CI 12.3 [2.9-51.7] and OR 95% CI 7.4 [2-27], respectively). Identifying specific causal agents of acute encephalitis remains a major challenge. Cerebrospinal fluid markers, as well as specific clinical findings, may however contribute to initial differentiation between infectious and noninfectious causes.
El reconocimiento temprano y la instauración del tratamiento adecuado son dos elementos de gran relevancia en el pronóstico de las encefalitis agudas. El objetivo del presente trabajo es determinar las principales causas de encefalitis aguda en nuestro medio, así como buscar predictores que permitan orientar a un diagnóstico determinado. Se revisaron de manera retrospectiva las historias clínicas de todos los pacientes adultos que consultaron en nuestro centro entre 2006 y 2013 con el diagnóstico presuntivo de encefalitis. Ciento cinco pacientes fueron finalmente incluidos en nuestro estudio. Se identificaron 82 pacientes con encefalitis de origen infeccioso (78%), 53 (65%) fueron hombres y 29 (35%) mujeres, con una edad promedio de 47.8 años. Los agentes infecciosos más frecuentes fueron virus: HSV-1 12 (11%), VZV 11 (10%), HSV-2 5 (5%) y EBV 5 (5%). Se diagnosticó encefalitis no infecciosa en 23 (22%) pacientes. La cefalea (p < 0.0001) y la fiebre (p = 0.008) fueron más frecuentes en las encefalitis de origen infeccioso. Además, los niveles de proteínas y células en el LCR fueron significativamente mayores en los casos de etiología infecciosa que en los de etiología no infecciosa (OR 12.3 95%CI [2.9-51.7] y OR 7.4 95%CI [2-27], respectivamente). La identificación de la etiología específica de las encefalitis agudas continúa siendo un gran desafío y en la mayoría de los casos no se identifica el agente causal. Determinados marcadores en el LCR pueden contribuir a la identificación inicial de las encefalitis de etiología infecciosa versus no infecciosa.
Assuntos
Humanos , Masculino , Feminino , Adolescente , Adulto , Pessoa de Meia-Idade , Idoso , Adulto Jovem , Encefalite/diagnóstico , Encefalite/líquido cefalorraquidiano , Encefalite Infecciosa/diagnóstico , Encefalite Infecciosa/líquido cefalorraquidiano , Antivirais/uso terapêutico , Prognóstico , Diferenciação Celular , Líquido Cefalorraquidiano , Reação em Cadeia da Polimerase , Estudos Retrospectivos , Diagnóstico Precoce , Diagnóstico Diferencial , Anti-Infecciosos/uso terapêutico , AnticorposRESUMO
BACKGROUND: Stuttering is often accompanied by involuntary movements, abnormal gestures or changes in facial expression. OBJECTIVE: To describe the incidence and phenomenology of abnormal movements (AMs) in stuttering patients. MATERIALS AND METHODS: Eighty-five consecutive patients with stuttering and 119 normal controls videotaped and subsequently reviewed, in which AMs were classified as voluntary or involuntary, and as concurrent or unrelated to speech. Movement phenomenology was correlated with disease severity. RESULTS: Of 85 stuttering patients studied, 51.7% had AMs and 22 more than one AM. Sixty-six different AMs were identified, of which 83.3% occurred during speech, 72.7% were classified as involuntary, and 27.2% as voluntary. Of 38 involuntary movements concurrent to speech, 25 were originally perceived as voluntary, but had since become involuntary through repeated use during stuttering. All involuntary movements not concurrent to speech fulfilled criteria for tics. CONCLUSION: AMs occurring during stuttering were not always involuntary; movements not concurrent with speech clearly fulfilled clinical criteria for tics and were similar in incidence to normal controls. Inverse correlation was found between conscious control of movement during speech and stuttering severity. Many involuntary movements occurring during speech were clearly referred by patients as initially voluntary early on in the development of their speech disorder (starters or unblockers), underlining the importance of repetitive use of complex motor sequences as a source for putative involuntary movement genesis.
Assuntos
Discinesias/complicações , Gagueira/complicações , Adolescente , Adulto , Análise de Variância , Criança , Discinesias/epidemiologia , Discinesias/terapia , Feminino , Humanos , Incidência , Masculino , Índice de Gravidade de Doença , Método Simples-Cego , Medida da Produção da Fala , Fonoterapia/métodos , Gagueira/epidemiologia , Gagueira/terapia , Gravação de VideoteipeRESUMO
A recent prospective analysis on writer's cramp showed that up to 44.6% of patients in a series of 65 presented mirror dystonia, defined as involuntary movements of the resting hand, abnormal posture, tremor, and jerks occurring while writing with the opposite hand. A clinical case is presented, with videotape evidence of right-handed writer's cramp, with mirror movements elicited while writing using either hand. Functional magnetic resonance imaging studies are compared both to those of a normal patient and to those from a patient with writer's cramp but lacking mirror dystonia. Widespread bilateral activation of cortical motor areas contralateral to the mirror movements in patients with writer's cramp and mirror movements suggests, that bilateral activation of the primary motor cortex may account for the appearance of these mirror movements. Further studies need to be conducted to determine whether mirror movements in dystonic patients appear as a result of loss of intra- and/or interhemispheric cortical inhibition or are simply a consequence of the sustained effort these patients need to exert while writing using a dystonic hand.