RESUMEN
BACKGROUND: With respect to sporadic Creutzfeldt-Jakob disease (sCJD), six molecular subtypes (MM1, MM2, MV1, MV2, VV1, and VV2) have been described, which vary with respect to age at disease onset, disease duration, early symptoms, and neuropathology. MRI signal alterations were reported to correlate with distinct Creutzfeldt-Jakob disease (CJD) subtypes. This multicenter, international study aimed to describe the brain MRI findings associated with each of the sCJD molecular subtypes. METHODS: Pathologically confirmed sCJD cases with codon 129 genotype (MM, MV, and VV), PrP(Sc) type, and fluid-attenuated inversion recovery (FLAIR) or diffusion-weighted imaging (DWI) were collected in seven countries. All MRI scans were assessed for signal changes according to a standard protocol encompassing seven cortical regions, basal ganglia, thalamus, and cerebellum. RESULTS: MRI scans were evaluated in 211 CJD patients (98 MM1, 23 MM2, 19 MV1, 30 MV2, 9 VV1, and 32 VV2). Basal ganglia hyperintensities occurred most frequently in MV2, VV2, and MM1 subtypes (79, 77, and 70%). Wide cerebral cortical signal increase was most common in VV1, MM2, and MV1 subtypes (86, 77, and 77%). Thalamic hyperintensities occurred most often in VV2 (45%) and MV2 (43%). The most consistent finding across most subtypes was high signal in basal ganglia, with these abnormalities found in 63% (FLAIR) and 71% (DWI). CONCLUSION: Cortical signal increase and hyperintensities in the basal ganglia and thalamus are detected by MRI across all molecular sporadic Creutzfeldt-Jakob disease subtypes. Our findings argue that characteristic MRI lesion patterns may occur for each molecular subtype.
Asunto(s)
Encéfalo/patología , Síndrome de Creutzfeldt-Jakob/patología , Imagen por Resonancia Magnética/métodos , Ganglios Basales/anatomía & histología , Ganglios Basales/patología , Ganglios Basales/fisiopatología , Encéfalo/anatomía & histología , Encéfalo/fisiopatología , Corteza Cerebral/anatomía & histología , Corteza Cerebral/patología , Corteza Cerebral/fisiopatología , Codón , Síndrome de Creutzfeldt-Jakob/clasificación , Síndrome de Creutzfeldt-Jakob/genética , Análisis Mutacional de ADN , Imagen de Difusión por Resonancia Magnética/métodos , Progresión de la Enfermedad , Pruebas Genéticas , Genotipo , Humanos , Fibras Nerviosas Mielínicas/patología , Variaciones Dependientes del Observador , Oportunidad Relativa , Proteínas PrPSc/genética , Valor Predictivo de las Pruebas , Sensibilidad y Especificidad , Tálamo/anatomía & histología , Tálamo/patología , Tálamo/fisiopatologíaRESUMEN
A 45-year-old man with a malignant fibrous histiocytoma (MFH) of the left thalamus is reported. This tumor only rarely originates within the brain. Primarily intracerebral MFH usually has a superficial localization and rarely involves the deep cerebral structures. Our patient presented with complex neuropsychological symptoms, including aphasia, hemispatial neglect and acalculia. These findings are further supporting evidence for the role of the thalamus, particularly of its posterior parts, in language, speech and other neuropsychological functions.
Asunto(s)
Anomia/patología , Afasia de Broca/patología , Afasia/patología , Neoplasias Encefálicas/patología , Histiocitoma Fibroso Benigno/patología , Pruebas Neuropsicológicas , Enfermedades Talámicas/patología , Biopsia con Aguja , Neoplasias Encefálicas/complicaciones , Diagnóstico Diferencial , Histiocitoma Fibroso Benigno/complicaciones , Humanos , Masculino , Persona de Mediana Edad , Enfermedades Talámicas/complicaciones , Tálamo/patologíaRESUMEN
A case of hamartoma of the tuber cinereum causing isosexual precocious puberty in a six-month-old boy, in whom the lesion was successfully extirpated, is presented. Our patient was relatively young, since hamartomas causing sexual precocity most often occur between the ages of one and three years. Hamartomas are discussed from the clinical and pathological points of view. The mechanisms of initiating pubertas praecox in cases of cerebral tumours, particularly hamartomas, are reviewed.