Cases reported "Syndrome"

Filter by keywords:



Filtering documents. Please wait...

1/16. Immunohistochemical analysis in a case of idiopathic Lennox-Gastaut syndrome.

    We herein report a neuropathological and immunohistochemical analysis of a brain from a 25-year-old male with idiopathic type of Lennox-Gastaut syndrome (LGS). The clinical pictures, such as seizure type and progressive mental deterioration with an initial normal psychomotor and mental development in a man were typical of LGS. A routine neuropathological examination showed no pronounced changes, such as neuronal loss, morphologically abnormal neurons, inflammation, vascular changes, Lafora bodies and tumor cells, except that mild gliosis was seen only in CA4 of the hippocampus. Numerous corpora amylacea were observed throughout the cerebral cortices subjacent to the pia mater. An immunohistochemical analysis showed no marked findings for such proteins as glutamate transporters, glutamate decarboxylase, glutamine synthetase, neuronal cytoskeleton proteins and heat-shock proteins. However, intense ubiquitin-immunostained neurons were only found in CA4 of the hippocampus, whereas numerous astrocytes showed a strong immunoreaction for glial fibrillary acidic protein, but showed an exclusively reduced immunoreactivity for metallothionein-I/II, zinc-chelating protein. Our findings thus suggest that the pathology in the hippocampus is either causally or consequentially associated with the seizures occurring in LGS.
- - - - - - - - - -
ranking = 1
keywords = astrocyte
(Clic here for more details about this article)

2/16. Fibroglial proliferation in pars planitis.

    In a 51-year-old patient with long-standing pars planitis, light and electron microscopical examination of the intravitreal 'snowbank' revealed a fibrovascular layer adjacent to the hyperplastic nonpigmented epithelium of the pars plana and an extensive fibroglial proliferation within the vitreous base. The fibrovascular layer consisted of well-differentiated capillaries, probably emanating from the peripheral retina, interspersed with aggregated vitreous fibrils. The fibroglial portion of the 'snowbank' was composed of fibrous astrocyte-like cells which had secreted basement membranes and larger diameter collagen fibrils. This fibroglial tissue was in direct continuity with an ultrastructurally similar preretinal membrane. No significant choroiditis or cyclitis could be demonstrated. It is hypothesized that, in pars planitis, a primary inflammatory process of the peripheral retina and vitreous base may stimulate the observed preretinal and intravitreal fibroglial proliferation.
- - - - - - - - - -
ranking = 1
keywords = astrocyte
(Clic here for more details about this article)

3/16. Fatal infantile leukodystrophy: a severe variant of CACH/VWM syndrome, allelic to chromosome 3q27.

    OBJECTIVE: To describe clinical and neuropathologic studies and linkage analysis on two sisters with a severe form of leukodystrophy. methods: A detailed study was performed on the second sister. Genotyping markers for chromosome 3, including eight additional markers surrounding the vanishing white matter (VWM) locus, were used. RESULTS: During the first year of life, two sisters developed a severe neurologic condition after an intercurrent infection. It was accompanied by irritability and stupor with rapid loss of their motor abilities. Results of extensive metabolic studies were negative. brain MRI showed severe and diffuse abnormalities of the encephalic white matter. Neuropathologic examination showed a severe lack of myelin with diffuse vacuolating white matter lesions in the brain, associated with an increased density of oligodendrocytes and a reduced number of astrocytes on morphometric analysis. In sharp contrast, the spinal cord white matter was preserved. The affected sibpairs shared a common haplotype for a broad region in chromosome 3. They were homozygous between markers D3S1565 and D3S3669, including the VWM locus. CONCLUSIONS: This condition is an unusual variant of childhood ataxia with diffuse central hypomyelination (CACH)/VWM, with characteristic shrinking and perivascular clustering of astrocytes. Haplotype analysis suggests that this variant is allelic to the VWM locus located on chromosome 3q27.
- - - - - - - - - -
ranking = 2
keywords = astrocyte
(Clic here for more details about this article)

4/16. Cerebro-hepato-renal syndrome. Report of a case with histochemical and ultrastructural observations.

    A new case of the cerebro-hepato-renal syndrome is being reported. The neuropathologic changes consisted of developmental abnormalities of cerebral and cerebellar cortex and of the inferior olives. In addition, there were metabolic changes in the central nervous system, indicated by an accumulation of lipid within histiocytes of free in gray and white matter, deficiency in myelination and gliosis of the white matter, and marked proliferation of protoplasmic astrocytes in the gray matter. A unique feature of this case was the presence of numerous clusters of lipid-filled macrophages and occasional cholesterol crystals in the molecular layer of the cerebellum. The histochemical reactions and ultrastructural appearances of the lipid deposits are suggestive of accumulation of several different types of lipids.
- - - - - - - - - -
ranking = 1
keywords = astrocyte
(Clic here for more details about this article)

5/16. 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.
- - - - - - - - - -
ranking = 1
keywords = astrocyte
(Clic here for more details about this article)

6/16. brain lactic alkalosis in Aicardi-Goutieres syndrome.

    Aicardi-Goutieres syndrome is a rare progressive encephalopathy characterized by acquired microcephaly, basal ganglia calcification, and chronic CSF lymphocytosis, raised levels of interferon alpha in CSF and plasma and chill-blain type lesions. A possible mechanism of injury is cytokine related microangiopathy. We report brain imaging and proton (1H) and phosphorus-31 (31P) magnetic resonance spectroscopy (MRS) findings during the first year after birth in two patients. In patient 1 the evolution of brain metabolite ratios and intracellular pH obtained from serial 1H (long TE) and 31P MRS studies are described; in patient 2 a single 1H (short TE) MRS study is described. Imaging findings included basal ganglia calcifications, cerebral atrophy, and leukodystrophy. The MRS results demonstrated that Aicardi-Goutieres syndrome is associated with reduced NAA/Cr, reflecting decreased neuronal/axonal density or viability, increased myo-inositol/Cr, reflecting gliosis or osmotic stress and a persisting brain lactic alkalosis. A brain lactic alkalosis has also been observed in those infants surviving perinatal hypoxia-ischaemia but with a poor neurodevelopmental outcome. A possible mechanism leading to brain alkalosis is up-regulation of the Na /H transporter by focal areas of ischaemia related to the microangiopathy or by pro-inflammatory cytokines. Such brain alkalosis may be detrimental to cell survival and may increase glycolytic rate in astrocytes leading to an increased production of lactate.
- - - - - - - - - -
ranking = 1
keywords = astrocyte
(Clic here for more details about this article)

7/16. Interstitial deletion of chromosome 2q32-34 associated with multiple congenital anomalies and a urea cycle defect (CPS I deficiency).

    A de novo deletion of the long arm of chromosome 2 at 2q31-33 was observed in the fetal amniocyte G-banded karyotype performed because of possible multiple malformations identified by ultrasound at 23 weeks gestation. Two days after the uneventful term delivery of a 2.45 kg male, the neonate experienced cardiopulmonary decompensation and biochemical changes compatible with carbamoyl phosphate synthetase I (CPS I) deficiency (elevated ammonia with a peak of 948 micromol/L, deficiency of citrulline, and no increase in orotic acid). The child died on day 3 of life. Physical anomalies confirmed at autopsy included double superior vena cava, ectopic adrenal tissue, and metatarsus adductus. The autopsy also revealed histologic evidence consistent with CPS deficiency, most notably microvesicular steatosis of the liver and Alzheimer's Type II changes with hypertrophic astrocytes in the basal ganglia. A postnatal lymphocyte karyotype confirmed the chromosome 2q31-33 deletion. Enzyme analysis on postmortem liver tissue confirmed the diagnosis of CPS deficiency. CPS I is reported to be mapped to 2q35 by NCBI (http://www.ncbi.nlm.nih.gov/mapview/) and 2q34 by ENSEMBL (http://www.ensembl.org/). The UCSC Human genome Browser July 2003 assembly also places the gene at 2q34 (http://genome.UCSC.edu/). fluorescence in situ hybridization (FISH) analysis with a BAC clone (RP11-349G4) of CPS I demonstrated that one copy of the gene was deleted in this infant. Using additional probes corresponding to the bands in the region of deletion, we identified the deleted region as 2q32-2q34. Our observations support the CPS I map position (ENSEMBL, UCSC) at 2q34. Additionally, potential conditions associated with deletions narrowly defined by standard cytogenetic techniques merit consideration in prenatal counseling. As demonstrated here, deletions may not only result in malformations and mental retardation but also increase the likelihood of revealing mutated genes located in the undeleted region of the homologous chromosome.
- - - - - - - - - -
ranking = 1
keywords = astrocyte
(Clic here for more details about this article)

8/16. Ultrastructure of vitreomacular traction syndrome associated with persistent hyaloid artery.

    AIM: To demonstrate the ultrastructure of vitreomacular traction associated with persistent hyaloid artery. methods: Pars plana vitrectomy was performed in a 66-year-old man with progressive vitreomacular traction associated with a persistent hyaloid artery. Epimacular tissue was peeled and processed for transmission electron microscopy. RESULTS: Ultrastructural analysis revealed multiple sheets of cellular and collagenous components. myofibroblasts and newly formed collagen were the predominant features. Fibrous astrocytes, fibroblasts, macrophages, and basement membrane were also present. CONCLUSION: The cellular composition of the epimacular tissue and high cellular activity suggest that persistence of the hyaloid artery may contribute to the development of vitreomacular traction.
- - - - - - - - - -
ranking = 1
keywords = astrocyte
(Clic here for more details about this article)

9/16. The cerebro-hepato-renal (Zellweger) syndrome: lamellar lipid profiles in adrenocortical, hepatic mesenchymal, astrocyte cells and increased levels of very long chain fatty acids and phytanic acid in the plasma.

    Clinical, radiological, histological and biochemical aspects of two cases of cerebro-hepato-renal syndrome (CHRS) are reported. CT scan disclosed a demyelinating process and gyral abnormalities reflecting the observed neuropathological findings. Trilamellar and lamellar inclusions were found in brain astrocytes, hepatic mesenchymal and adrenal cells. The morphologic features of these inclusions are similar to those observed in childhood adrenoleukodystrophy, neonatal adrenoleukodystrophy and infantile Refsum's disease. In the two CHRS patients, increased plasma levels of very long chain fatty acids (C26:1, C26:0) and phytanic acid were in the same range as those observed in seven other instances of neonatal adrenoleukodystrophy. The presence of increased plasma levels of phytanic acid in these disorders suggests that phytanate oxidase activity is, at least, partially located in peroxisomes.
- - - - - - - - - -
ranking = 5
keywords = astrocyte
(Clic here for more details about this article)

10/16. Globoid cells, glial nodules, and peculiar fibrillary changes in the cerebro-hepato-renal syndrome of Zellweger.

    In addition to a distinct malformation (pachymicrogyria, heterotaxic lamination of the cerebellar cortex, olivary dysplasia), unusual degenerative changes were found in the nervous system of 2 unrelated babies with the zellweger syndrome. Cerebral clefts were present in 1 case. In both infants there was neuron loss and accumulation of glial nodules and globoid cells in the gray matter as well as degeneration of the white matter. There was fatty change in astrocytes and diffuse gliosis. neurons in the column of Clarke and the lateral cuneate nucleus showed peculiar fibrillary changes. Cytoplasmic inclusion bodies were seen in the spinal ganglia. Swelling of cortical astrocytes was remarkable in the older infant. The combination of a rare malformation with the cell changes described here gives the syndrome a unique neuropathological profile.
- - - - - - - - - -
ranking = 2
keywords = astrocyte
(Clic here for more details about this article)
| Next ->


Leave a message about 'Syndrome'


We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.