RESUMO
This reports a 40 year old man with cerebrotendinous xanthomatosis who had bilateral cataracts, enlarged Achilles tendons, progressive dementia, gait disturbance and peripheral neuropathy. Electroencephalography, electromyography, and magnetic resonance imaging (MRI) of the brain and spine were performed. Magnetic resonance imaging revealed cerebral, cerebellar and cervical cord atrophy and white matter involvement in the cerebrum and cerebellum correlating well with the clinical findings. To date there has been one previous report of MRI of the brain in cerebrotendinous xanthomatosis and none of the spinal cord.
Assuntos
Tendão do Calcâneo , Encefalopatias Metabólicas/diagnóstico , Encéfalo/patologia , Colestanol/sangue , Colesterol/análogos & derivados , Imageamento por Ressonância Magnética , Medula Espinal/patologia , Xantomatose/diagnóstico , Tendão do Calcâneo/patologia , Adulto , Atrofia , Encefalopatias Metabólicas/genética , Cerebelo/patologia , Aberrações Cromossômicas/genética , Transtornos Cromossômicos , Doenças Desmielinizantes/diagnóstico , Genes Recessivos , Humanos , Masculino , Xantomatose/genéticaRESUMO
This article describes a C57BL/6 mouse model for the investigation of blood-brain barrier (BBB) alteration. Osmotic modification of BBB was achieved by infusion of 1.6 M arabinose solution into the internal carotid artery with or without occlusion of the external carotid artery. BBB alteration was measured by infusing 2% Evans blue dye. Only 1.6 M arabinose-treated animals but not 0.9% NaCl controls displayed prominent ipsilateral staining of frontal and temporal lobes. Light blue staining occurred in animals sacrificed within 10 min after injection. Prominent staining occurred in animals sacrificed 1-6 hours later. Identically treated animals were maintained for up to 6 months without signs of systemic or neurological dysfunction. This model may permit study of the effects of biological response modifiers (BRMs) upon the central nervous system (CNS) in healthy and diseased mice.
Assuntos
Barreira Hematoencefálica , Modelos Animais de Doenças , Animais , Arabinose , Permeabilidade Capilar , Masculino , Camundongos , Camundongos Endogâmicos C57BLRESUMO
Epilepsy can be triggered by many unusual mechanisms. Some are exceedingly rare and bizarre, seemingly confined to one patient. This article reports the case of a 20-year-old woman who has had absence epilepsy for 11 years that is evoked by thinking or talking about driving an automobile. This stimulus consistently precipitated absence seizures, as defined by clinical and electroencephalographic criteria. An emotionally traumatic early childhood event may play a role in the triggering mechanism. A similar case has not been reported.
