RESUMO
Huntington's disease (HD) is a neurologic disorder that is not completely understood; its fundamental physiological mechanisms and chemical effects remain somewhat unclear. Among these uncertainties, we can highlight information about the concentrations of brain metabolites, which have been widely discussed. Concentration differences in affected, compared to healthy, individuals could lead to the development of useful tools for evaluating the progression of disease, or to the advance of investigations of different/alternative treatments. The aim of this study was to compare the thalamic concentration of metabolites in HD patients and healthy individuals using magnetic resonance spectroscopy. We used a 2.0-Tesla magnetic field, repetition time of 1500 ms, and echo time of 135 ms. Spectra from 40 adult HD patients and 26 control subjects were compared. Quantitative analysis was performed using the LCModel method. There were statistically significant differences between HD patients and controls in the concentrations of N-acetylaspartate+N-acetylaspartylglutamate (NAA+NAAG; t-test, P<0.001), and glycerophosphocholine+phosphocholine (GPC+PCh; t-test, P=0.001) relative to creatine+phosphocreatine (Cr+PCr). The NAA+NAAG/Cr+PCr ratio was decreased by 9% and GPC+PCh/Cr+PCr increased by 17% in patients compared with controls. There were no correlations between the concentration ratios and clinical features. Although these results could be caused by T1 and T2 changes, rather than variations in metabolite concentrations given the short repetition time and long echo time values used, our findings point to thalamic dysfunction, corroborating prior evidence.
Assuntos
Adolescente , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Doença de Huntington/metabolismo , Espectroscopia de Ressonância Magnética , Doenças Talâmicas/metabolismo , Tálamo/fisiopatologia , Ácido Aspártico/análise , Ácido Aspártico/análogos & derivados , Estudos de Casos e Controles , Creatina/análise , Deutério , Dipeptídeos/análise , Glicerilfosforilcolina/análise , Atividade Motora , Fosfocreatina/análise , Fosforilcolina/análise , Repetições de Trinucleotídeos , Doenças Talâmicas/diagnósticoRESUMO
Rhabdoid tumors of the central nervous system are uncommon tumors. About 188 cases have been reported in the literature so far. In this report, we describe a case of a rhabdoid tumor of the thalamus in a 35-year-old male patient. Light microscopic and immunohistochemical features are discussed and the relevant literature reviewed.