RESUMEN
OBJECTIVE: To investigate the clinical diagnosis and treatment of tumefactive multiple sclerosis (TMS). METHODS: Clinical data, laboratory and imaging examinations, and treatment of 3 patients with TMS were retrospectively analyzed. Data were further analyzed in relation to the literature. RESULTS: All 3 patients had acute or subacute onset with large lesions on imaging, which were difficult to differentiate from tumors. Two cases had relapses on follow-up and one case had a stereotactic biopsy. CONCLUSIONS: TMS is difficult to differentiate from brain tumors. It is necessary to improve the understanding of these diseases, to apply the correct diagnosis and treatment and to avoid unnecessary invasive surgery and inappropriate treatment.
Asunto(s)
Neoplasias Encefálicas , Esclerosis Múltiple , Humanos , Neoplasias Encefálicas/diagnóstico por imagen , Neoplasias Encefálicas/complicaciones , Neoplasias Encefálicas/patología , Neoplasias Encefálicas/cirugía , Enfermedades Desmielinizantes/diagnóstico por imagen , Enfermedades Desmielinizantes/patología , Diagnóstico Diferencial , Imagen por Resonancia Magnética , Esclerosis Múltiple/diagnóstico por imagen , Esclerosis Múltiple/complicaciones , Esclerosis Múltiple/patología , Estudios RetrospectivosRESUMEN
Genetic Creutzfeldt-Jakob disease (gCJD) is characterized by mutations in the PRNP gene and represents approximately 10-15% of the human prion diseases. Here, we report a 42-year-old Chinese man who was diagnosed with gCJD. The patient had a rare mutation in codon 196 (E196A) of PRNP leading to an exchange of amino acid from glutamic acid (E) to alanine (A). The polymorphism of codon 129 in the patient was methionine homozygote. His mother and daughter are asymptomatic carriers of the same mutation. The clinical manifestations were similar to those of sporadic CJD. 14-3-3 protein was positive in cerebrospinal fluid, and there were sharp slow complex waves in electroencephalography and ribbon-like signals on magnetic resonance imaging (MRI). The main complaints of patient changed from visual space and visual colour to psychotic symptoms with enhanced high signal intensity on the occipital and frontal cortices on MRI. We compared the clinical characteristics of the current patient with those of previously reported Chinese patients with other gCJD of E196A mutation to summarize the common features of E196A gCJD.
