RESUMEN
BACKGROUND AND PURPOSE: Wilson disease (WD) is rare but one of the few metabolic disorders that can possibly benefit from effective available treatments. The literature regarding proton MR spectroscopy (MRS) in WD is scarce and controversial. The purpose of this study was to determine the brain metabolic changes due to WD by using MRS. To our knowledge, this is the first time that MRS was performed in such a large sample of patients with WD. METHODS: Thirty-six patients with WD and 37 healthy volunteers were examined with MRS in the parieto-occipital cortex, frontal white matter, and basal ganglia (BG). Ratios of the following metabolites were calculated in relation to creatine (Cr): N-acetylaspartate (NAA), choline (Cho), myo-inositol (mI), and glutamine/glutamate (Glx). The mean peak line width was measured on each spectrum. RESULTS: Compared with control subjects, patients with WD had significantly decreased NAA/Cr ratios in the three studied areas (P < .005) and an increased mI/Cr ratio in the BG (P < .001). Cho/Cr and Glx/Cr did not differ between the groups. The mean peak line in the BG was wider in patients than in control subjects. CONCLUSION: WD is unequivocally associated with MRS changes that could possibly be assigned to neuronal loss (in the three studied areas), to gliosis, and to iron and/or copper deposition in the BG.
Asunto(s)
Degeneración Hepatolenticular/metabolismo , Espectroscopía de Resonancia Magnética , Adolescente , Adulto , Niño , Femenino , Humanos , Masculino , Estudios ProspectivosRESUMEN
In this retrospective study, 47 patients with clinical diagnosis of central nervous system metastases of breast cancer were evaluated by computerized tomography (CT), magnetic resonance imaging (MRI) and cerebrospinal fluid (CSF) examination. The patients were divided in 2 groups: 1, without leptomeningeal neoplasm and 2, with leptomeningeal neoplasm. In the group 2, the time interval between the primary disease and the central nervous system metastasis as well as the survival time were shorter than in group 1 (40 and 4.3 months in group 2 versus 57 and 10 months respectively, in group 1). In both groups the most common neurological symptons and signs were intracranial hypertension and motor deficits. The most sensitive diagnostic methods were CT and MRI in group 1, and the CSF examination in group 2. The use of the tumor markers CEA and CA-15.3 in the routine examination of CSF showed promissing results, mainly in leptomeningeal forms.