RESUMO
Gilles de la Tourette syndrome (TS) and idiopathic focal torsion dystonia are both movement disorders in which the pathologic process is thought to arise within the basal ganglia. However, despite their possible functional links, they are clinically distinct and are generally considered to have different underlying etiologies. There are several reports in the literature that suggest a relationship between eye winking tics, excessive blinking, and blepharospasm and a report of the coexistence of tics and dystonia. We describe a three-generation family in which TS and dystonias cosegregate. In total, eight patients were affected, five with dystonia and three with TS/facial tics. One of the patients with historic evidence of dystonia subsequently died of motor neuron disease. The identification of this family further strengthens the evidence in favor of an etiologic relationship between some cases of Gilles de la Tourette syndrome and focal dystonia.
Assuntos
Distúrbios Distônicos/genética , Genes/genética , Síndrome de Tourette/genética , Adulto , Idoso , Piscadela/fisiologia , Diagnóstico Diferencial , Distúrbios Distônicos/diagnóstico , Feminino , Deleção de Genes , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Mutação Puntual/genética , Síndrome de Tourette/diagnósticoRESUMO
X-linked adrenoleukodystrophy (ALD) usually presents in childhood as severe cerebral demyelination accompanied by axonal loss or in adults as a progressive spinal cord syndrome (adrenomyeloneuropathy). Rarely, patients present with adult onset spinocerebellar ataxia. We performed mutation analysis in a family with several members who had this rare phenotype and identified a single nucleotide deletion in exon 2 of the ALD gene. This is the first mutation analysis to be reported in this unusual phenotypic variant of ALD and the first deletion to be reported in exon 2.
Assuntos
Adrenoleucodistrofia/genética , Mutação Puntual/genética , Degenerações Espinocerebelares/genética , Cromossomo X/genética , Ligação Genética/genética , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , FenótipoRESUMO
A man presented with unilateral visual blurring associated with bilateral retinal periphlebitis which was felt to be a complication of his biopsy-proven active ulcerative colitis. Retinal periphlebitis has been associated rarely with some forms of colitis but we can find no report of its occurrence in association with ulcerative colitis although other ocular inflammatory disorders are well recognized.
Assuntos
Colite Ulcerativa/complicações , Flebite/etiologia , Doenças Retinianas/etiologia , Veia Retiniana , Adulto , Angiofluoresceinografia , Humanos , Masculino , Flebite/diagnóstico , Doenças Retinianas/diagnósticoAssuntos
Anfetamina , Hemorragia Cerebral/etiologia , Transtornos Relacionados ao Uso de Substâncias/complicações , Adulto , Encéfalo/diagnóstico por imagem , Hemorragia Cerebral/diagnóstico por imagem , Humanos , Masculino , Transtornos Relacionados ao Uso de Substâncias/diagnóstico por imagem , Tomografia Computadorizada por Raios XRESUMO
Progressive multifocal leucoencephalopathy (PML) is caused by a papovavirus but serum antibody titres are generally considered unhelpful in clinical diagnosis because antibodies to the commonest causal agent (JC virus) are frequently found in normal adults. There is little published information about CSF titres but usually they have not been useful. Two cases of PML, confirmed by autopsy, are described where CSF antibody to JC virus was measured. In one case the JC antibody titre was significantly higher in the CSF than the serum and we suggest that this finding is diagnostically useful. In this case there was a transient stabilization of the disease following treatment with cytarabine with a change in antibody titres suggestive of reduced viral replication in the central nervous system and a host response to the infection. In the other case, which was untreated, rising serum antibody levels indicated active infection with a host response.
Assuntos
Anticorpos Antivirais/líquido cefalorraquidiano , Leucoencefalopatia Multifocal Progressiva/imunologia , Adulto , Idoso , Anticorpos Antivirais/sangue , Humanos , Leucoencefalopatia Multifocal Progressiva/diagnóstico , Leucoencefalopatia Multifocal Progressiva/patologia , MasculinoRESUMO
Two brothers are described in whom adrenoleukodystrophy (ALD) presented as progressive cerebral degeneration in early adult life. Diagnosis during the life of one brother was based on cerebral biopsy appearances. At autopsy there was a leucodystrophy and an additional myelopathy in both cases. Biochemical studies carried out on the propositi and other family members revealed characteristic abnormalities of ALD in the propositi and two, as yet clinically unaffected, adult brothers, and abnormalities characteristic of the heterozygous state in their mother. Neither of the clinically affected brothers showed clinical features of hypoadrenalism and these cases emphasize the importance of considering the diagnosis of ALD in adult males with leucodystrophy even in the absence of overt adrenal insufficiency.
Assuntos
Glândulas Suprarrenais/patologia , Adrenoleucodistrofia/genética , Sistema Nervoso Central/patologia , Esclerose Cerebral Difusa de Schilder/genética , Adrenoleucodistrofia/diagnóstico , Adrenoleucodistrofia/patologia , Adulto , Biópsia , Células Cultivadas , Ácidos Graxos/análise , Fibroblastos/análise , Humanos , Masculino , Microscopia EletrônicaRESUMO
Eighty-nine patients attending neurology clinics with transient non-focal neurological symptoms were studied by routine electrocardiography and 24-hour monitoring of the electrocardiography and 24-hour monitoring of the electrocardiogram. In comparison with 109 control subjects there was no significant overall excess of arrhythmias (age-adjusted odds ratio 1.7, kappa2 = 2.67) except in the subgroup of patients under the age of 30 (odds ratio 11.6, p less than 0.05). Bradyarrhythmias, but not tachyarrhythmias, were significantly more common in the patients (odds ratio 7.4, p less than 0.001),. Since patients can rarely be studied while they are having symptoms a working diagnosis must be based on a balance of probabilities: arrhythmias in young patients, or bradyarrhythmias in any patient, are likely to be clinically relevant. Ambulatory electrocardiographic monitoring contributed to the diagnosis in at least 25 of the patients, Nevertheless, the extent to which further investigations are pursued, and the form of treatment ultimately adopted, must also be influenced by the frequency and severity of the patients' symptoms.
Assuntos
Arritmias Cardíacas/diagnóstico , Tontura/etiologia , Síncope/etiologia , Adulto , Fatores Etários , Arritmias Cardíacas/complicações , Eletrocardiografia , Feminino , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
The relationship between plasma levels of pyridostigmine to clinical evaluation of muscle power was examined in nine patients with myasthenia gravis during treatment with pyridostigmine in doses of 60 to 1040 mg daily. Five of the nine subjects demonstrated a trend towards a positive correlation, but in only two of them was this statistically significant at p < 0.05. In addition, the presence or absence of a possible correlation between muscle power and plasma concentration was not related to the duration of the disease, additional prednisolone therapy or thymectomy.
Assuntos
Miastenia Gravis/tratamento farmacológico , Brometo de Piridostigmina/uso terapêutico , Adulto , Relação Dose-Resposta a Droga , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Contração Muscular/efeitos dos fármacos , Miastenia Gravis/sangue , Esforço Físico , Brometo de Piridostigmina/sangueRESUMO
A case of-Behçet's syndrome is described in which, in addition to the usual features of the condition, there was evidence of renal, gastric and cardiac involvement. Neurological involvement presented as hemisphere, transient ischaemic episodes. Immune complexes were detected and the patient responded promptly to prednisolone.
Assuntos
Complexo Antígeno-Anticorpo , Síndrome de Behçet/imunologia , Síndrome de Behçet/complicações , Doença das Coronárias/etiologia , Humanos , Ataque Isquêmico Transitório/etiologia , Nefropatias/etiologia , Masculino , Pessoa de Meia-Idade , Úlcera Gástrica/etiologiaRESUMO
Four patients developed postural tremor after ingestion of sodium valproate. The tremor was recorded by a variable-capacitance transducer and was of the "benign essential" type. The dosages of sodium valproate varied between 1000 mg and 2000 mg daily and serum levels were between 34.9 microgram per milliliter and 154.3 microgram per milliliter. Tremor was ameliorated in two cases when the dosage was reduced. In only one case was the serum level in the toxic range for our laboratory. The pharmacology of essential tremor is unknown; production of a similar tremor by a drug could serve as a biochemical model.
Assuntos
Tremor/induzido quimicamente , Ácido Valproico/efeitos adversos , Adulto , Eletrofisiologia , Humanos , Masculino , Pessoa de Meia-Idade , Transdutores , Tremor/fisiopatologia , Ácido Valproico/administração & dosagemAssuntos
Síncope/diagnóstico , Adolescente , Adulto , Idoso , Transtornos Cerebrovasculares/complicações , Transtornos Cerebrovasculares/diagnóstico , Diagnóstico Diferencial , Eletrocardiografia , Eletroencefalografia , Epilepsia/complicações , Epilepsia/diagnóstico , Feminino , Cardiopatias/complicações , Cardiopatias/diagnóstico , Humanos , Hipotensão Ortostática/complicações , Hipotensão Ortostática/diagnóstico , Masculino , Pessoa de Meia-Idade , Síncope/classificação , Síncope/etiologiaRESUMO
A case of Wilson's disease is reported in which the major symptom before treatment was a reading disability. This was caused by ocular dysmetria, and the abnormal eye movements were recorded by electronystagmography and optokinetic drum testing.