RESUMO
The case of a 37-year-old woman suffering from a relapsing-remitting tumefactive inflammatory disease of the central nervous system (CNS) is described. The patient had four severe relapses over eight years, and was treated with steroids, immunosuppression and plasma-exchange with modest benefit. No magnetic resonance imaging or cerebrospinal spinal fluid findings suggestive of multiple sclerosis emerged during the eight-year follow-up. 'Relapsing-remitting tumefactive inflammation' seems to have the features of a distinct inflammatory CNS disease.
Assuntos
Neoplasias Encefálicas/patologia , Encéfalo/patologia , Doenças Desmielinizantes/patologia , Encefalite/patologia , Hemianopsia/patologia , Adulto , Neoplasias Encefálicas/líquido cefalorraquidiano , Neoplasias Encefálicas/tratamento farmacológico , Doenças Desmielinizantes/líquido cefalorraquidiano , Doenças Desmielinizantes/tratamento farmacológico , Encefalite/líquido cefalorraquidiano , Encefalite/tratamento farmacológico , Feminino , Glucocorticoides/uso terapêutico , Hemianopsia/líquido cefalorraquidiano , Hemianopsia/tratamento farmacológico , Humanos , Imageamento por Ressonância Magnética , Metilprednisolona/uso terapêutico , Recidiva , SíndromeRESUMO
We report two patients who developed isolated visual symptoms and signs as initial manifestations of Creutzfeldt-Jakob disease (CJD). Both patients had normal conventional T1- and T2-weighted brain magnetic resonance (MR) images; in one patient, early cortical abnormalities were detected by diffusion-weighted and fluid attenuated inversion recovery (FLAIR) magnetic resonance imaging (MRI). Results from the cerebrospinal fluid assay for the 14-3-3 brain protein were also negative in one patient, despite pathologic confirmation of CJD at autopsy. The Heidenhain variant of CJD should be considered in all patients who present with isolated visual manifestations, including homonymous hemianopsia and normal conventional brain MRI. Diffusion-weighted and FLAIR MRI may demonstrate early cortical abnormalities in patients with CJD. The CSF assay for the 14-3-3 protein may be normal, even in pathologically confirmed cases.
Assuntos
Encéfalo/patologia , Síndrome de Creutzfeldt-Jakob/diagnóstico , Hemianopsia/diagnóstico , Proteínas 14-3-3 , Idoso , Síndrome de Creutzfeldt-Jakob/líquido cefalorraquidiano , Evolução Fatal , Feminino , Hemianopsia/líquido cefalorraquidiano , Humanos , Imageamento por Ressonância Magnética , Masculino , Tomografia Computadorizada de Emissão , Tirosina 3-Mono-Oxigenase/líquido cefalorraquidianoRESUMO
Many CoQ trials for mitochondrial encephalomyopathy are reported, however, the action of CoQ in the central nervous system is unknown. We administered CoQ to a patient with MELAS, and decreasing CSF lactate and pyruvate levels were revealed. This reduction in CSF lactate and pyruvate may be evidence that CoQ acts directly on the CNS. There have been no other descriptions of evidence of CoQ effective action in the central nervous system, a finding unique to this report.