1/25. MELAS with prominent white matter gliosis and atrophy of the cerebellar granular layer: a clinical, genetic, and pathological study.This report concerns an autopsy case of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) with unusual neuropathological findings. The patient was a Japanese woman who was 21 years old at the time of death. Her mother is a patient with genetically confirmed MELAS. Her clinical manifestations included convulsions and lactic acidosis in the latter half of the first decade of life, followed by deafness, dementia, muscle weakness in the lower extremities, slight ataxia in the upper and lower extremities, and diabetes mellitus. Muscle biopsy revealed ragged-red fibers, and genetic study showed a point mutation at nucleotide pair 3243 in mitochondrial DNA. She died of lactic acidosis. In the clinical course, she did not develop stroke-like episodes. The neuropathological examination revealed not only minute to small necrotic foci in the cerebral cortex, amygdala, hippocampus, and cerebellum, but also prominent white matter gliosis in the central nervous system and cerebellar cortical degeneration of granular cell type. Our neuropathological findings, including prominent white matter gliosis of the central nervous system and cerebellar cortical degeneration of granular cell type, may indicate morphologically widespread cellular dysfunction, not restricted to either neuronal or vascular derangement, in the brain pathology of MELAS.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
2/25. Morphologic and genetic analysis of retinal angioma associated with massive gliosis in a patient with von hippel-lindau disease.We report morphologic and genetic analysis of bilateral retinal angiomas in a 35-year-old patient with von Hippel-Lindau (VHL) disease. Enucleation of both eyes revealed extensive intraocular tumor. Whereas the right eye demonstrated large amounts of retinal angioma tissue, the left eye showed small areas of retinal angioma associated with massive diffuse retinal gliosis. Genetic analysis of the angioma showed allelic deletion of the VHL gene locus, suggesting that the origin of the angiomas was directly related to the patient's underlying VHL disease. Genetic analysis of the pleomorphic glial proliferation showed no allelic VHL gene deletion, which is consistent with the assessment that the glial component represents a reactive process. apoptosis detected by TUNEL revealed lack of dna fragmentation in the angioma; in contrast, many positive signals were found in the massive gliosis. We confirmed that the abnormal VHL genes were located in the "stromal" cells of the retinal angioma. Massive gliosis in VHL disease is a true reactive retinal gliosis.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
3/25. Aicardi-Goutieres syndrome: a genetic microangiopathy?Aicardi-Goutieres syndrome (AGS) (McKusick 225750) is an autosomal recessive disease with onset in the 1st year of life, resulting in progressive microcephaly, calcification of cerebral white matter, thalamus and basal ganglia, generalized cerebral demyelination and a chronic low-grade CSF lymphocytosis, without evidence of infection. We report the autopsy of a patient who died with this disorder at the age of 17 years. Findings were severe microencephaly, diffuse but inhomogeneous cerebral white matter loss with associated astrocytosis, calcific deposits in the white matter, thalami and basal ganglia. neocortex and cerebellar cortex were affected by wedge-shaped microinfarctions. Small vessels showed calcification in the media, adventitia and perivascular spaces. These findings are similar to some previous publications that in retrospect may have been AGS, but this is the first reported cerebral microangiopathy in which the diagnosis AGS was made during lifetime. This report provides evidence that microangiopathy plays a significant role in the pathogenesis of AGS.- - - - - - - - - - ranking = 2keywords = life (Clic here for more details about this article) |
4/25. Merosin-deficient congenital muscular dystrophy and cortical dysplasia.Congenital muscular dystrophy (CMD) encompasses a heterogenous group of muscle disorders with autosomal recessive inheritance, characterized by muscular weakness and hypotonia at birth or within the first few months of life and developmental delay. Merosin-deficient CMD is a clinically distinct form which may be associated with significant abnormalities of the brain detectable by neuroimaging. We report two siblings of consanguineous parents with merosin-deficient CMD in an Irish family who in addition to the characteristic white matter abnormalities on neuroimaging, had occipital dysplasia. Clinical, electrophysiological muscle biopsy findings and neuroimaging were very similar in both cases. Although merosin-deficient CMD with white matter abnormalities on neuroimaging is well documented in the literature, the association with occipital dysplasia has only rarely been reported. The appearance of an identical cortical defect in these siblings suggests an underlying genetic mechanism.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
5/25. Meningioangiomatosis with a predominant fibrocalcifying component.A case of meningioangiomatosis, resected from the parietal lobe in a 31-year-old female is presented. Macroscopically, the lesion was composed of five calcified nodules embedded within hardened elastic tissue. Histologically, cortical and subcortical calcified masses were found surrounded by a palisade of spindle and/or oval cells. In adjacent nervous tissue many pathological microvessels were observed and some were ensheathed by a perivascular proliferation of spindle cells. Moreover, gliosis with Rosenthal fibers and prominent connective tissue elements were observed. Immunohistochemical analysis based on monoclonal antibodies was performed. The spindle cells both within the palisades and the perivascular proliferations were vimentin and usually epithelial membrane antigenpositive. The possible pathogenesis of meningioangiomatosis is discussed and the role of angiogenesis within this lesion emphasized.- - - - - - - - - - ranking = 2keywords = life (Clic here for more details about this article) |
6/25. Quantitative proton magnetic resonance spectroscopy of focal brain lesions.The diagnostic value of single-voxel proton magnetic resonance spectroscopy (2 T, stimulated echo acquisition mode, TR = 6,000 ms, TE = 20 ms, 4-5 mL volumes-of-interest) was assessed for a differentiation of focal brain lesions of unknown etiology in 17 patients 1-14 years of age. Absolute metabolite concentrations were compared with age-matched control subjects and an individual control region. Most of the brain tumors were characterized by strongly reduced total N-acetylaspartyl compounds and marked increases of myo-inositol and choline-containing compounds, consistent with a lack of neuroaxonal tissue and a proliferation of glial cells. Lactate was elevated in only four patients. When using this pattern for a metabolic discrimination of brain tumors from other focal lesions, proton spectroscopy correctly identified 14 of 17 abnormalities, as confirmed by histologic examination after neurosurgical intervention. One false-positive tumor diagnosis was a severe reactive gliosis mimicking a typical tumor spectrum. Two inconclusive cases comprised an astrocytoma with moderately elevated myo-inositol but reduced choline-containing compounds and a patient with an abscess leading to a marked reduction of all metabolites but strong contributions from mobile lipids. In summary, quantitative proton spectroscopy has considerable clinical value for preoperative characterization of focal brain lesions.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
7/25. A novel mutation (G217D) in the Presenilin 1 gene ( PSEN1) in a Japanese family: presenile dementia and parkinsonism are associated with cotton wool plaques in the cortex and striatum.We report a family of Japanese origin that has five individuals from two generations affected by an illness characterized by dementia, a stooped posture and an antiflexion gait with an onset in the fourth or fifth decade of life. Two siblings had a clinical phenotype characterized by dementia and Parkinsonism with stooped posture, rigidity and bradykinesia. Neuropathological alterations in both patients included numerous 'cotton wool' plaques (CWPs), senile plaques, severe amyloid angiopathy, neurofibrillary tangles, neuronal rarefaction and gliosis. CWPs were present throughout the cerebral cortex as well as in the caudate nucleus, putamen, claustrum, thalamus, substantia innominata and colliculi. These plaques contained a small quantity of argyrophilic and tau-immunopositive neurites as well as glial fibrillary acidic protein-immunopositive elements. They were mildly fluorescent with thioflavin S and immunopositive using monoclonal antibodies recognizing amyloid beta (A beta) ending at residue 42. The main constituents of CWPs were neuropil elements and extracellular amyloid fibrils. These neuropil elements were small dendrites including spines, axon terminals containing synaptic vesicles and astrocytic processes. dendrites occasionally contained bundles of paired helical filaments. dendrites and axons often had an irregular outline and appeared as degenerating osmiophilic processes containing electron-dense mitochondria. Genetic analysis of the proband's affected sibling revealed a novel nucleotide substitution (G to A) in exon 8 of the Presenilin 1 ( PSEN1) gene. This nucleotide change results in a glycine to aspartic acid substitution at residue 217 of the PSEN1 protein. This study provides further evidence of clinical and pathological heterogeneity in dementing illnesses associated with PSEN1 mutations.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
8/25. Diencephalic idiopathic gliosis: an unusual hypothalamic syndrome of dermopathy, diarrhea and growth arrest.This case report of a 16-year-old girl describes the association of chronic diarrhea and lower limb dermopathy with an unusual and widespread gliosis within hypothalamic and other diencephalic structures. This syndrome to our knowledge has not been previously reported. Hypothalamic disease was suggested during life by examination findings of sustained hypothermia, altered sleep-wake cycles and abnormal cortisol diurnal rhythms. Profound growth arrest from the age of 8 yr (growth velocity < 1.4cm/yr) despite normal levels of growth hormone and response to physiological stimuli were additional unusual features. autopsy after sudden death at 16 yr showed extensive gliosis in hypothalamic and adjacent diencephalic structures with proportionately little neuronal loss--suggesting an unidentified stimulus to glial proliferation. In the absence of evidence of other organ dysfunction it is suggested that dermopathy and chronic diarrhea in this case may have an autonomic basis. The impaired tissue response to growth hormone could be due to chronic hypothermia or involvement of some other (unidentified) hypothalamic factor regulating growth velocity.- - - - - - - - - - ranking = 2keywords = life (Clic here for more details about this article) |
9/25. Epimacular proliferative response following internal limiting membrane peeling for idiopathic macular holes.PURPOSE: To present two patients who underwent surgery for an idiopathic macular hole (IMH) with internal limiting membrane (ILM) peeling and developed an epimacular proliferative response. methods: Observational case report. Two patients with an IMH underwent pars plana vitrectomy with ILM peeling. Ophthalmic examination including optical coherence tomography (OCT) was performed pre- and postoperatively. In both cases, scanning laser ophthalmoscopy (SLO) was performed postoperatively. RESULTS: In the first case, the closure of the macular hole (MH) was confirmed ophthalmoscopically and by OCT following the surgery. At 2 months postoperatively, a thin epiretinal membrane (ERM) developed over the nasal macula area where the ILM had been peeled. The patient's visual acuity had recovered to 1.0 but she complained of metamorphopsia. At 18 months postoperatively, the thin ERM around the nasal fovea remained and her visual acuity was still 1.0. In the second case, the MH was sealed after the surgery, and the patient's visual acuity had improved to 1.0 at 3 months, but an indistinct ERM developed in the macular region where the ILM had been peeled. Two years after the operation, her VA was still 1.0. One and two years postoperatively, a thin epimacular proliferation remained unchanged; in addition, the OCT and SLO images remained stable. CONCLUSION: Two patients who underwent IMH surgery with ILM peeling developed an epimacular proliferative response postoperatively. We suggest that the injury associated with the ILM peeling may have stimulated glial proliferation.- - - - - - - - - - ranking = 8keywords = life (Clic here for more details about this article) |
10/25. Massive gliosis of the retina: report of a case investigated by immunohistochemistry and clonality assays.We report a rare case of massive retinal gliosis that developed in a 32-year-old woman who had been born with bilateral microphthalmia. The patient had recently noticed left ophthalmos and underwent total resection of the affected eyeball. Histologically, the vitreous body had been totally replaced by massively proliferated spindle cells, which had delicate fibrillary cytoplasm without nuclear atypia. Because the attenuated retinal pigment epithelium and intact sclera were preserved at the periphery of the tumor, the tumor was thought to be retinal in origin. Immunohistochemically, the spindle cells were strongly positive for glial fibrillary acidic protein and neuron-specific enolase and partly positive for S-100 protein. These findings led to a diagnosis of massive gliosis of the retina. Clonality analysis of the tumor using a human androgen receptor assay revealed the polyclonal nature of the proliferating spindle cells. This is the first documentation of the polyclonality of this disease.- - - - - - - - - - ranking = 2keywords = life (Clic here for more details about this article) |
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