Cases reported "Brain Diseases"

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1/39. Alexander's disease: a case report of a biopsy proven case.

    A case of infantile onset Alexander's disease in a two and a half year old male child is presented, who had progressively increasing macrencephaly since birth. A frontal lobe biopsy revealed collections of Rosenthal fibres in the subpial and perivascular areas with diffuse dysmyelination and presence of reactive astrocytes. The Rosenthal fibres were immunoreactive for glial fibrillary acidic protein and ubiquitin. Electron microscopic examination showed the Rosenthal fibres as intra-astrocytic and extracellular granular osmiphilic collections.
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2/39. Hypothetical pathophysiology of acute encephalopathy and encephalitis related to influenza virus infection and hypothermia therapy.

    BACKGROUND: To establish a treatment strategy for acute encephalopathy and encephalitis associated with influenza virus infection, the pathophysiology of the disease was investigated through manifestations and laboratory findings of patients. patients AND methods: A child with central nervous system (CNS) complications during the course of influenza virus infection was analyzed in view of immunologic abnormalities. In addition, four children with acute encephalopathy and encephalitis were enrolled in the hypothermia treatment for the purpose of stabilizing the cytokine storm in the CNS. RESULTS: The CNS symptoms preceded the systemic progression to the failure of multiple organs (MOF) and disseminated intravascular coagulopathy (DIC). The mild hypothermia suppressed the brain edema on computed tomography (CT) scanning and protected the brain from the subsequent irreversible neural cell damage. CONCLUSION: The replicated viruses at the nasopharyngeal epithelium may disrupt the olfactory mucosa and gain access to the brain via the olfactory nerve system. The direct virus-glial cell interaction or viral stimulation of the glial cells induces the production and accumulation of the pro-inflammatory cytokines, especially tumor necrosis factor (TNF)-alpha, in the CNS. The cytokine storm results in neural cell damage as well as the apoptosis of astrocytes, due to the TNF-alpha-induced mitochondrial respiratory failure. The disruption of the blood-brain barrier progresses to the systemic cytokine storm, resulting in DIC and MOF. Mild hypothermia appears promising in stabilizing the immune activation and the brain edema to protect the brain from ongoing functional, apoptotic neural and glial damage and the systemic expansion of the cytokine storm.
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keywords = astrocyte
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3/39. diagnosis of alexander disease in a Japanese patient by molecular genetic analysis.

    alexander disease is a leukodystrophy that is neuropathologically characterized by the presence of numerous Rosenthal fibers in astrocytes. Recently, mutations in the gene encoding glial fibrillary acidic protein (GFAP) were identified in patients with alexander disease. We sequenced the GFAP gene of a Japanese girl who presented with typical symptoms of alexander disease but in whom the diagnosis was not proven by histopathology. We identified a missense mutation, R239C, which is identical to the mutation previously reported to be most frequent. As was the case in previously described patients, our patient was also heterozygous for the de novo mutation. Interestingly, despite the fact that this is a de novo mutation, R239C was found to be common in different ethnic groups, implying that the site is a "hot spot" for mutagenesis. Molecular genetic analysis now makes the antemortem diagnosis of alexander disease possible.
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4/39. Brain ultrastructure in Reye's syndrome.

    Cerebral biopsies were obtained for electron microscopy 48 and 72 hours after the onset of encephalopathy from a child with severe Reye's syndrome. Gravely ill at the time of craniectomy to relieve cerebral hypertension, the child survived and recovered good brain function; therefore, the biopsy findings appear to reflect the organelle pathology of the brain at a severe yet reversible stage in the disease process. The cardinal ultrastructural changes in the brain in Reye's syndrome are astrocyte swelling and partial deglycogenation, myelin bleb formation and universal injury of neuron mitochondria. The mitochondrial injury consists of matrix disruption with moderate but not massive swelling. dilatation of rough endoplasmic reticulum and nuclear changes occurred only in neurons with severely altered mitochondria. The organelle pathology of the brain in this case did not resemble the organelle pathology of the brain in human "hepatic encephalopathy" or in experimental ammonia intoxication in primates. The mitochondrial ultrastructure of the cerebral neurons resembled the unique mitochondrial ultrastructural changes seen in the liver parenchyma in Reye's syndrome.
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5/39. Immunohistochemical study of six cases of Taylor's type focal cortical dysplasia: correlation with electroclinical data.

    PURPOSE: Cortical specimens from six patients operated on for drug-resistant epilepsy diagnosed as Taylor's type focal cortical dysplasia were submitted to neuropathological and immunohistochemical studies. methods: All patients were submitted to presurgical investigations including clinical and neuropsychological evaluations, EEG/video telemetry of ictal and interictal events, magnetic resonance imaging, and ictal and interictal single-photon emission computed tomography (SPECT). Recordings from electrocorticography (ECoG) were obtained in four cases and from subdural electrode implantation in two. Postsurgical follow-up was assessed according to Engel's score. immunohistochemistry (IHC) was processed for parvalbumin (PV), calbindin D28-K (CB), nonphosphorylated neurofilaments (SMI-311), glial fibrillary acidic protein (GFAP) in all cases. RESULTS: We found continuous/quasi-continuous spikes and sharp-wave patterns in three cases and frequent repetitive bursting of polyspikes and ECoG seizures in two cases. Every patient showed cortical dyslamination, abnormal and giant neurons, and balloon cells. GFAP immunoreactivity was found in astrocytes and some balloon cells that were less intensely stained. Nonphosphorylated neurofilaments SMI-311 immunoreactivity was found in normal and giant neurons and in some balloon cells, making visible thin neuropils. PV immunoreactivity was present in normal interneurons and in fibers in layers IV-V. PV-negative balloon cells were surrounded by abundant PV-positive fibers. CB immunoreactivity was found mostly in interneurons in layers II-III. CONCLUSIONS: Our research is inconclusive. More cases should be investigated, and we must draw more accurate anatomic correlations between the ECoG recordings and surgical specimens studied with IHC.
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keywords = astrocyte
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6/39. Gliofibrous nodule in the cerebello-medullary fissure.

    An extra-axial nodule in the cerebello-medullary fissure is described, occurring in a 27-year-old-woman. MRI and CT scans revealed the lesion was a non-enhanced round mass, which was associated with mild atrophy of the surrounding cerebellum, but with no perifocal edema. In the surgical observation, the mass was white, elastic and hard, well demarcated and localized in the cerebello-medullary fissure. Histologically, the lesion was composed of astrocytes and collagen-producing fibroblasts with no anaplasia. These findings suggested that the lesion was hamartomatous, but not neoplastic. This type of gliofibrous nodule has not been previously reported.
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keywords = astrocyte
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7/39. Neonatal status convulsivus, spongiform encephalopathy, and low activity of Na /K( )-ATPase in the brain.

    The first and second child of a family died from neonatal seizures with no detectable brain malformation, metabolic, infectious, or chromosomal etiology. Neuropathological examination of the brain of the second child who died at 11 days revealed a widespread spongy state and a selective vulnerability of the astrocytes characterized by numerous enlarged bare astrocytic nuclei and different forms of astrocyte degeneration. The glial cells were strongly positive for glial fibrillary acidic protein and vimentin immunocytochemical reaction. Cortical measurement of Na /K( )-ATPase revealed very low enzyme activity. We hypothesize that a defect of Na /K( )-ATPase of the astrocytes could be the common pathogenetic factor for the congenital status convulsivus and for the spongy state.
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keywords = astrocyte
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8/39. Presence of filamin in the astrocytic inclusions of aicardi syndrome.

    aicardi syndrome affects only females and has been hypothesized to be an X-linked dominant male-lethal disorder. Because no familial cases can be studied for genetic linkage analysis, the mutated gene has remained elusive. With the goal of selecting genes for mutation analysis by a functional candidate approach, a detailed pathologic analysis of two brains from deceased aicardi syndrome patients was performed. The presence of micrencephaly, absent or hypoplastic corpus callosum, polymicrogyria, heterotopia, ventriculomegaly, intracerebral cyst, and intracytoplasmic eosinophilic inclusions was confirmed in glial fibrillary acidic protein-positive astrocytes in the cortex and heterotopias, but not in white matter. The inclusions demonstrated strong immunolabeling with antibodies to filamin and vimentin but weak labeling with antibodies to proteins S100 and microtubule-associated protein 1. These findings suggested that an underlying defect in the cytoskeleton, which involves filamin, may cause this condition. Because the filamin A gene in Xq28 is mutated in another disorder with heterotopia, familial bilateral periventricular heterotopia, mutation analysis of filamin A in aicardi syndrome patients was pursued. No mutations were found, and the full-length protein was expressed in both brain samples. Future studies will focus on investigation of X-linked genes that may affect function of filamin or other cytoskeletal proteins.
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keywords = astrocyte
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9/39. biopsy diagnosis of a case of adult onset orthochromatic leukodystrophy. Clinical and brain biopsy findings.

    We report the intra vitam histopathological findings on the brain of a female patient presenting an adult form of orthochromatic leukodystrophy. At 38 years of age the patient began to show progressive dementia and a pseudobulbar syndrome. The pedigree revealed an autosomal dominant pattern of inheritance. The CT scan showed a wide hypodensity of the anterior white matter. Biochemical investigations showed only a slight elevation of serum VLCFA and no alteration of urinary enzymatic activities. Cortical and subcortical biopsy specimens from the right frontal lobe showed: neuronal loss in the gray matter, accumulation of autofluorescent material within residual neurons and sudanophilic material within macrophages and astrocytes, sparing of axons. Electron microscopy showed lamination and fragmentation of the myelin and the presence of electrondense bodies and vesicular material into oligodendrocytes and astrocytes. We discuss the differential diagnosis of OLD forms with adult onset, namely between Lowenberg-Hill disease and the pure form of OLD with pigmented glial cells.
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ranking = 2
keywords = astrocyte
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10/39. Anchorage densities associated with hemidesmosome-like structures in perivascular reactive astrocytes.

    Electron microscopical examination of devastated and reticular gliosis-replaced areas of two human brains revealed novel anchorage densities (ADs) associated with hemidesmosome-like structures (HDLSs) in perivascular astrocytes; the densities, 200-300 nm away from the cell membrane overlying the basal lamina, ran parallel to the membrane. The subplasmalemmal ADs usually received fibrils from the main stream of the deeply located glial fibrils, and sent isolated 13- to 16-nm fibrils roughly perpendicularly to the unusually prominent and frequently continuous HDLSs on the inner leaflet of the cell membrane, undercoated by a thickened basal lamina. The variable profiles of the ADs indicated that they were cell membrane-connected sheets or meshes that were virtually completely composed of bundles of glial fibrils intercrossing at variable angles or running roughly parallel to one another. All these findings suggest that the ADs may provide a significant support to the cell membrane facing the perivascular space.
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ranking = 5
keywords = astrocyte
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