ABSTRACT
Hipersinal no cortex cerebral e/ou nos gânglios da base observado com a técnica de difusão da ressonância magnética (RM-DIF) tem sido descrito como bom marcador diagnóstico da doença de Creutzfeldt-Jakob esporádica (DCJe). Relatamos caso de DCJe com evolução clínica atípica e achados incomuns na RM-DIF. Homem de 53 anos foi examinado com história de dois anos de demência rapidamente progressiva e ataxia cerebelar. Exame do líquido cefalorraqueano, incluindo pesquisa da proteína 14-3-3, foi normal; EEG não revelou atividade periódica; RM-DIF mostrou hiperintensidade nos giros que afetava quase inteiramente o manto cortical do hemisfério cerebral esquerdo e que no hemisfério direito se limitava à parte posterior do giro cíngulo. Análise do DNA revelou ausência de mutação ou de inserção no gene da proteína priônica e a presença de homozigose para metionina no códon 129. Biópsia cerebral confirmou o diagnóstico de DCJ. Hipersinal na RM-DIF pode ser limitado ao córtex cerebral e pode distribuir-se de modo muito assimétrico na DCJe.
Subject(s)
Humans , Male , Middle Aged , Cerebral Cortex/physiopathology , Creutzfeldt-Jakob Syndrome/diagnosis , Diffusion Magnetic Resonance Imaging , Biomarkers , Cerebral Cortex/pathology , Creutzfeldt-Jakob Syndrome/physiopathologyABSTRACT
Há evidências de que a disfunção mitocondrial possa contribuir para a tumorigênese ou a progressão do tumor. No entanto, a influencia do conteúdo do genoma mitocondrial neste processo ainda não é clara. Os nossos objetivos foram analisar, quantitativamente, o DNAmt de astrocitomas difusos e, posteriormente, identificar as alterações da principal região controladora de replicação DNAmt nestes tumores. 33 dos 49 glioblastomas apresentaram depleção mitocondrial. O subgrupo de glioblastoma com depleção de DNAmt apresentou sobrevida significativamente mais curta, em comparação com os sem depleção. A região controladora de replicação de DNAmt se mostrou altamente polimórfica sem mutações. Acreditamos que a depleção do genoma mitocondrial está relacionada à maior agressividade e ao pior prognóstico de glioblastoma / There are evidences that the mitochondrial dysfunction may contribute to tumorigenesis or tumor progression. However, the pathological mechanisms are not completely elucidated yet. Our purpose has been to analyze the relative quantification of mtDNA in diffuse astrocytoma and, eventually identify the alterations in the control region of mtDNA replication in these tumors. From 49 glioblastomas, 33 have presented mitochondrial depletion in comparison with no-tumoral brain samples. Glioblastomas subgroups with mtDNA depletion presented shorter survival compared to glioblastomas without depletion, with a highly significant difference. The control region, responsible for DNA replication, is highly polymorphic, without mutations. We evidenced that the depletion phenomenon of the mitochondrial genome is related to major aggressiveness and the worst prognosis of glioblastoma...
Subject(s)
Adult , Middle Aged , Male , Female , Humans , Astrocytoma/diagnosis , DNA, Mitochondrial/analysis , Brain Neoplasms/pathology , Glioblastoma/diagnosis , PrognosisABSTRACT
We report the case of a 41-year-old man with iatrogenic Creutzfeldt-Jakob disease (CJD) acquired after the use of growth hormone (GH) obtained from a number of pituitary glands sourced from autopsy material. The incubation period of the disease (from the midpoint of treatment to the onset of clinical symptoms) was rather long (28 years). Besides the remarkable cerebellar and mental signs, the patient exhibited sleep disturbance (excessive somnolence) from the onset of the symptoms, with striking alteration of the sleep architecture documented by polysomnography. 14-3-3 protein was detected in the CSF, and MRI revealed increased signal intensity bilaterally in the striatum, being most evident in diffusion-weighted (DW-MRI) sequences. This is the second case of iatrogenic CJD associated with the use of GH reported in Brazil
Subject(s)
Humans , Male , Adult , Creutzfeldt-Jakob Syndrome/etiology , Human Growth Hormone , Iatrogenic Disease , Blotting, Western , Cerebrospinal Fluid Proteins , Creutzfeldt-Jakob Syndrome/cerebrospinal fluid , Creutzfeldt-Jakob Syndrome/diagnosis , Human Growth Hormone , Magnetic Resonance Imaging , Tyrosine 3-MonooxygenaseABSTRACT
Creutzfeldt-Jakob disease (CJD), the most known human prion disease, is usually sporadic but approximately 15 percent of the cases are familial. To date, seven CJD cases with codon 210 mutation (GTT to ATT) have been reported in the literature. We describe a case of a 57 year-old woman who presented gait disturbances and rapidly progressive dementia, leading to death four months after onset. Electroencephalogram revealed periodic activity, diffusion-weighted magnetic resonance imaging showed hypersignal in basal ganglia, and test for 14-3-3 protein was strongly positive in the CSF. The complete prion protein gene coding region was sequenced after PCR amplification, showing a point mutation in codon 210. This is the first case of CJD with codon 210 mutation diagnosed in Brazil. We emphasize the role of genetic search for prion protein gene mutation, even in patients presenting clinical features resembling sporadic CJD