RESUMEN
Several apparently idiopathic cases of so called 'senile chorea' have been recently redefined by the availability of brain MRI scan and the clinical introduction of genetic testing for Huntington's disease. Cases currently still regarded as idiopathic might yet be attributed to other medical conditions. Chorea as a unique manifestation of a primary antiphospholipid syndrome (PAPS) has so far been described only in young and middle-aged subjects. Here, we report a typical case of 'senile chorea' associated with PAPS, thus expanding the potential underlying etiologies and further narrowing the window of primary 'senile chorea'.
Asunto(s)
Síndrome Antifosfolípido/complicaciones , Corea/diagnóstico , Edad de Inicio , Anciano , Antidiscinéticos/uso terapéutico , Anticuerpos Antifosfolípidos/sangre , Anticonvulsivantes/uso terapéutico , Síndrome Antifosfolípido/sangre , Síndrome Antifosfolípido/diagnóstico , Ganglios Basales/patología , Carbamazepina/análogos & derivados , Carbamazepina/uso terapéutico , Corea/tratamiento farmacológico , Corea/epidemiología , Corea/etiología , Corea/patología , Diagnóstico Diferencial , Diazepam/uso terapéutico , Epilepsia Tónico-Clónica/etiología , Femenino , Haloperidol/uso terapéutico , Humanos , Enfermedad de Huntington/diagnóstico , Imagen por Resonancia Magnética , OxcarbazepinaAsunto(s)
Histona Desacetilasas/metabolismo , Enfermedad de Huntington/tratamiento farmacológico , Enfermedad de Huntington/fisiopatología , Sulpirida/uso terapéutico , Ácido Valproico/uso terapéutico , Anticonvulsivantes/uso terapéutico , Antipsicóticos/uso terapéutico , Histona Desacetilasas/efectos de los fármacos , Humanos , Enfermedad de Huntington/enzimología , Actividad Motora/efectos de los fármacosRESUMEN
Sjogren's syndrome (SS) is a systemic autoimmune disorder, and neurological involvement may frequently occur. Here we describe a 79-year-old woman who came to our attention for a sudden right incomplete 3rd cranial nerve palsy. Following extensive investigations, a diagnosis of primary SS was reached, and the patient recovered after treatment with ev Ig and steroids. Therefore, we suggest that SS should be considered in apparently idiopathic 3rd cranial nerve palsies, since, with the appropriate treatment, they might be transient and reversible.
Asunto(s)
Enfermedades del Nervio Oculomotor/diagnóstico , Enfermedades del Nervio Oculomotor/etiología , Síndrome de Sjögren/complicaciones , Síndrome de Sjögren/diagnóstico , Anciano , Diplopía/diagnóstico , Diplopía/etiología , Diagnóstico Precoz , Femenino , HumanosRESUMEN
Here we report the case of a 73-year-old Italian woman affected by genetically confirmed oculopharyngeal muscular dystrophy (OPMD) with a negative family history. As OPMD is usually transmitted as an autosomal-dominant meiotically stable trait, this case allows us to suggest that putative de novo OPMD mutations might occur more frequently than previously thought; moreover, when compatible with a proper clinical phenotype, OPMD might be included in the differential diagnosis even in the absence of a positive family history.
Asunto(s)
Distrofia Muscular Oculofaríngea/diagnóstico , Distrofia Muscular Oculofaríngea/fisiopatología , Anciano , Análisis Mutacional de ADN/métodos , Femenino , Humanos , Italia , Músculo Esquelético/patología , Distrofia Muscular Oculofaríngea/genética , Proteína II de Unión a Poli(A)/genéticaRESUMEN
Chickenpox may lead to several different neurological complications, but optic neuritis has rarely been described; in particular, only one case of isolated bilateral anterior optic neuritis (AON) in an immune-competent adult has so far been reported. We describe a second case of this type and consider similarities and differences between our patient and all other cases of AON following chickenpox. Then, we discuss the therapeutic role of steroids and advance the hypothesis of different pathogenetic pathways in immune-competent and immune-compromised subjects.
Asunto(s)
Varicela/complicaciones , Inmunocompetencia/fisiología , Neuritis Óptica/etiología , Adulto , Femenino , Angiografía con Fluoresceína/métodos , Herpesvirus Humano 3/inmunología , Herpesvirus Humano 3/aislamiento & purificación , Humanos , Neuritis Óptica/patología , Neuritis Óptica/fisiopatologíaRESUMEN
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder involving both upper and lower motor neurons, leading inexorably to death within a few years. Although our understanding of the pathogenesis of this disease has grown at a very fast rate in recent years, we do not yet have effective treatment options that can positively impact the quality of life (QoL) of these patients. Interestingly, increasing experimental evidence suggests that oxidative stress is involved in the pathogenesis of ALS and that vitamin E could reduce neuronal damage. Hence, in this observational study we determined the QoL in 33 ALS patients taking or not taking vitamin E supplementation (600 mg/day), using the Italian version of the Short-Form 36-Item Health Survey (SF-36). No differences were seen between the two groups of patients, therefore we do not recommend routine use of vitamin E in ALS patients, at least in the absence of randomised clinical trials specifically designed for addressing this issue.