1/115. Brainstem pathology of infantile Gaucher's disease with only wave I and II of auditory brainstem response.We studied the auditory brainstem response (ABR) and neuropathology in a female infant who died at six months of age because of typical infantile Gaucher's disease. The patient was hospitalized for hepatosplenomegaly and failure to thrive. Her ABR showed only waves I and II. The neuropathological study disclosed that: (1) Gaucher's cells were found in the perivascular region of the cerebrum and anterior ventral nucleus of the thalamus. (2) gliosis was found in the dorsal part of the brainstem rather than the ventral part. (3) Neuronal cells in the superior olivary nucleus were lost, and marked gliosis was found in the cochlear nucleus. The disappearance of wave III and later waves of ABR could be supported by these pathological findings.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
2/115. An autopsy case of myotonic dystrophy with mental disorders and various neuropathologic features.An autopsy case of myotonic dystrophy (MD) is reported. The patient was a 58-year-old male. He presented with muscular weakness and muscular atrophy at the age of 33 and was diagnosed as having MD from myotonic symptoms (i.e. percussion and grip myotonia) at 49 years old. mental disorders including a delusional hallucinatory state, mental slowness, indifference, and lack of spontaneity as well as visual cognitive impairments were noted at the age of 55. He showed Parkinsonism and died of septic shock. T2-weighted magnetic resonance imaging demonstrated diffuse cortical atrophy with a marked frontal atrophy and high-intensity signals in the white matter. Single photon emission computed tomography demonstrated hypoperfusion in the frontal cortex. Neuropathologic observation revealed neuronal loss in the superficial layer of the frontal and parietal cortices and extensive neuronal loss in the occipital cortex, intracytoplasmic inclusion body in the nerve cell of the medial thalamic nuclei, neuronal loss and presence of lewy bodies in the substantia nigra and locus ceruleus corresponding to the pathologic features of Parkinson's disease, as well as abnormalities of myelin in the white matter. The present case suggests that in MD brain, various neuropathologic changes may occur and they contribute to the mental disorders.- - - - - - - - - - ranking = 0.16666666666667keywords = brain (Clic here for more details about this article) |
3/115. 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 = 0.27159818635163keywords = brain, central nervous system, nervous system (Clic here for more details about this article) |
4/115. Pontocerebellar hypoplasia associated with respiratory-chain defects.Pontocerebellar hypoplasias are congenital disorders of brain morphogenesis which include such diverse etiologies as carbohydrate-deficient glycoprotein syndrome type 1, cerebromuscular dystrophies (walker-warburg syndrome, Fukuyama syndrome, muscle-eye-brain disease) and at least two types of autosomal recessive neurodegenerations known as pontocerebellar hypoplasia type I and II. Pontocerebellar hypoplasia type 1 is a lethal phenotype and clinical features include congenital contractures, respiratory insufficiency, central and peripheral motor dysfunction and spinal anterior horn degeneration. Type 2 is characterized by progressive microcephaly, extrapyramidal dyskinesia and normal spinal cord findings. In this paper, we describe a girl, born at 33 weeks of gestation, presenting with respiratory insufficiency and multiple contractures. MRI scan of the brain demonstrated pontocerebellar hypoplasia and cortical and diffuse periventricular white matter abnormalities. Postmortem examination showed pontocerebellar hypoplasia with extensive gliosis of the periventricular white matter and of the basal ganglia with normal spinal cord findings. histology of skeletal muscle was normal. Biochemical analysis demonstrated multiple deficiencies of respiratory chain enzymes in skin fibroblasts. This case demonstrates a lethal phenotype of pontocerebellar hypoplasia without spinal cord abnormalities associated with a respiratory-chain disorder. The diagnostic workup in a patient whose brain image shows pontocerebellar hypoplasia should include a search for respiratory-chain impairment.- - - - - - - - - - ranking = 0.66666666666667keywords = brain (Clic here for more details about this article) |
5/115. Paraneoplastic limbic encephalitis associated with small cell carcinoma of the prostate.A 76-year-old man with primary small cell carcinoma of the prostate died after a subacute illness marked by memory loss and truncal ataxia Post-mortem examination of the central nervous system was consistent with limbic encephalitis and cerebellar degeneration. Although limbic encephalitis is a known complication of small cell carcinoma of the lung, this seems to be the first reported case of limbic encephalitis associated with small cell carcinoma of the prostate. Implications with respect to diagnosis and therapy are discussed.- - - - - - - - - - ranking = 0.052465759842481keywords = central nervous system, nervous system (Clic here for more details about this article) |
6/115. Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency.A mildly retarded infant with failure to thrive developed hypoglycaemia, focal seizures, respiratory failure and hemiparesis during a febrile episode at the age of 16 months. A brain scan was initially normal and showed hemilateral focal edema and gliosis at later stages. 3-Methylcrotonyl-CoA carboxylase deficiency was suggested by elevated urinary excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, and confirmed by enzyme assays. The patient was treated with protein restriction and carnitine and remained stable during the following 5 years. Hemiparesis and some developmental delay persisted. In acute focal brain disease, metabolic disorders must be considered. 3-Methylcrotonyl-CoA carboxylase deficiency adds to the list of possible causes of "metabolic stroke".- - - - - - - - - - ranking = 0.33333333333333keywords = brain (Clic here for more details about this article) |
7/115. Pathological and neuropathological findings in two males with fragile-X syndrome.The present paper addresses post mortem pathological and neuropathological findings in two males with fragile-X syndrome, aged 67 and 87 years. Both subjects died from sudden, unexpected cardiovascular causes, and both showed abnormalities of the mitral valve, ventricular hypertrophy and cardiomegaly. Both cases demonstrated macrocephaly characteristic of the classical Martin-Bell phenotype in FRAXA. There was increased brain weight in both cases: macroscopically, both cerebral and cerebellar hemispheres appeared normal, but dilated lateral ventricles were seen; and microscopic examination of the brain in case 2 showed normal hexalaminar architecture and no gross neuronal dropout. The hippocampus showed mild CA4 pyramidal cell loss and associated gliosis. The cerebellum showed focal Purkinje cell loss and corresponding Bergmann gliosis. Whilst there is a need to delineate the microscopic features of fragile-X syndrome from those of the ageing process, there is an urgent need for more systematic neuropathological studies of fragile-X syndrome; the increased brain weight and Purkinje cell loss in autism and fragile-X syndrome reopens the debate on these two conditions. The case for further research into the cardiac anomalies in fragile-X syndrome is also strengthened by the findings. Finally, the present report confirms the role of interstitial cell hyperplasia as the major cause of megalo-testes in this condition.- - - - - - - - - - ranking = 0.5keywords = brain (Clic here for more details about this article) |
8/115. 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 = 0.16666666666667keywords = brain (Clic here for more details about this article) |
9/115. dna damage and activated caspase-3 expression in neurons and astrocytes: evidence for apoptosis in frontotemporal dementia.frontotemporal dementia (FTD) is a neurodegenerative disease which affects mainly the frontal and anterior temporal cortex. It is associated with neuronal loss, gliosis, and microvacuolation of lamina I to III in these brain regions. In previous studies we have described neurons with dna damage in the absence of tangle formation and suggested this may result in tangle-independent mechanisms of neurodegeneration in the AD brain. In the present study, we sought to examine dna fragmentation and activated caspase-3 expression in FTD brain where tangle formation is largely absent. The results demonstrate that numerous nuclei were TdT positive in all FTD brains examined. Activated caspase-3 immunoreactivity was detected in both neurons and astrocytes and was elevated in FTD cases as compared to control cases. A subset of activated caspase-3-positive cells were also TdT positive. In addition, the cell bodies of a subset of astrocytes showed enlarged, irregular shapes, and vacuolation and their processes appeared fragmented. These degenerating astrocytes were positive for activated caspase-3 and colocalized with robust TdT-labeled nuclei. These findings suggest that a subset of astrocytes exhibit degeneration and that dna damage and activated caspase-3 may contribute to neuronal cell death and astrocyte degeneration in the FTD brain. Our results suggest that apoptosis may be a mechanism of neuronal cell death in FTD as well as in AD (228).- - - - - - - - - - ranking = 0.83333333333333keywords = brain (Clic here for more details about this article) |
10/115. A case of leukoencephalopathy with vanishing white matter.A 6-year old Turkish boy with a recently defined entity: "leukoencephalopathy with vanishing white matter" is described. He was born to consanguinous parents. His psychomotor development was normal till he first presented with fever and generalized tonic-clonic seizures at the age of 2.5, followed by rapid motor and mental deterioration. Decerebrate posture and marked spasticity subsequently developed. The initial MRI examination showed diffuse involvement of white matter, including subcortical U-fibers, with signal intensity parallel to CSF on all sequences. The white matter appeared swollen. The ventricles were slightly enlarged and there was cavum septi pellucidi et vergae. The posterior crus of the internal capsule, external and extreme capsules were affected. Cerebellar hemispheres and vermis showed atrophy. The involvement pattern of brainstem was noteworthy in that pontine tegmentum and cruri cerebri were affected. Follow-up MRI obtained after three years did not show any interval change. brain biopsy showed thinned cortex with relatively preserved cortical layering and neuronal structure. There was rarefaction of the white matter with cystic degeneration. Fibrillary gliosis and increased number of oligodendroglial cells were observed within the cerebral white matter.- - - - - - - - - - ranking = 0.16666666666667keywords = brain (Clic here for more details about this article) |
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