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 = central nervous system, nervous system (Clic here for more details about this article) |
2/25. 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 = 0.5keywords = central nervous system, nervous system (Clic here for more details about this article) |
3/25. Endoscopic biopsy for tumors of the third ventricle.Twelve patients underwent endoscopic biopsy of a tumor involving the third ventricle. Nine patients had no significant medical history while 3 had a history of cancer. Unique characteristics of each case dictated the optimal surgical technique. Endoscopic tumor biopsy was combined with additional procedures in 9 cases; shunt insertion (3), shunt insertion with endoscopic septostomy (5), and transcallosal craniotomy (1). diagnosis was established in 11 patients (92%); 6 primary brain tumors, 3 metastatic central nervous system tumors, 1 metastatic systemic cancer, and 1 region of post-treatment gliosis. One case was aborted due to poor visualization. Therapy was directly influenced by endoscopic biopsy in 11/12 cases (92%) and craniotomy for tumor resection was avoided in 10/12 patients (83%). Of the 5 patients who underwent endoscopic septostomy, 4 required no subsequent procedures for hydrocephalus. There were no complications, and hospital stay averaged 1.78 days for patients who underwent successful endoscopic biopsy. Tumors of the third ventricle are amenable to endoscopic biopsy with excellent diagnostic yield and low morbidity. The procedure must be tailored depending upon the tumor location within the third ventricle, the degree of ventriculomegaly, and the need to perform a septostomy. Singularly or combined with other endoscopic procedures, patients can be spared multiple and more invasive surgical procedures.- - - - - - - - - - ranking = 0.5keywords = central nervous system, nervous system (Clic here for more details about this article) |
4/25. chorea-acanthocytosis: neuropathology of brain and peripheral nerve.We report the neuropathological data from a familial case of chorea-acanthocytosis with central and peripheral nervous system involvement. At the age of 34, the patient underwent a peripheral nerve biopsy which was analyzed by light- and electron microscopy. These studies showed a selective reduction in the large diameter myelinated fibre population, with several clusters of regeneration. Remyelinating fibers surrounded by flattened Schwann cell processes were also present. The patient died at the age of 44, and post-mortem macroscopic examination of the brain showed marked atrophy of the caudate. Histological examination of paraffin sections showed almost complete depletion of neurons in the caudate, with severe astrocytic gliosis. The putamen and pallidum were slightly less severely depleted of neurons, but with marked astrocytic gliosis. Diffuse mild gliosis was also evidenced, by immunohistochemistry with anti-GFAP, in the thalamus and subcortical white matter.- - - - - - - - - - ranking = 0.15367917163216keywords = nervous system (Clic here for more details about this article) |
5/25. Cortical neuronal dysgenesis mimicking a malignant neoplasm.An 18-year old woman, presenting with seizures, had an MRI of the head which suggested the presence of a malignant lesion. Interestingly, biopsy of this lesion ultimately confirmed cortical neuronal dysgenesis.- - - - - - - - - - ranking = 0.034197009190682keywords = neoplasm (Clic here for more details about this article) |
6/25. Neuropathological considerations in cerebro-hepato-renal syndrome (Zellweger's syndrome).The nervous system in patients with cerebro-hepato-renal syndrome appeared to be affected at various tissue levels. There was evidence of a migrational disorder manifested by polymicrogyria and lack of normal neuronal maturation. There was dysmyelination of the white matter associated with accumulation of neutral fat in astrocytes. Within the peripheral nerves, masses of tangled neurofilaments producing dystrophic axons were demonstrated by electron microscopy. These findings could be explained on the basis of a genetic metabolic defect, one that involved particularly the amino acids. The defect may have interfered with the normal intercellular reaction during embryogenesis resulting in the malformation of multiple organs. The same metabolic abnormality could have caused the hepatic damage and disturbance in normal myelination during the neonatal period.- - - - - - - - - - ranking = 0.15367917163216keywords = nervous system (Clic here for more details about this article) |
7/25. biopsy diagnosis of familial Alexander's disease.A 26-year-old woman presented with headaches, incoordination and a cerebellar mass (1982). The CT scan revealed dilated ventricles and a hypodense space-occupying lesion adjacent to the fourth ventricle. Neuronal loss, gliosis and masses of Rosenthal fibers were seen in biopsy. There was no evidence of neoplasm. A second biopsy 2 years later was similar to the original specimen. A diagnosis of Alexander's disease was suggested. Later that year the patient's 11-year-old brother manifested a clinical picture initially diagnosed as brainstem glioma, but whose biopsy was characteristic of Alexander's disease. There has been a gradual deterioration of these siblings over the past 6 years (1986-1991). No evidence of neoplasm has appeared.- - - - - - - - - - ranking = 0.017098504595341keywords = neoplasm (Clic here for more details about this article) |
8/25. Neurofilament inclusion body disease with early onset frontotemporal dementia and primary lateral sclerosis.A small number of patients have recently been described with a sporadic neurodegenerative disease, associated with the neuropathological finding of neurofilament-immunoreactive neuronal inclusions. The clinical and pathological spectrum of this new disease entity has yet to be fully defined. We describe an additional case of "neurofilament inclusion body disease" (NIBD) with several unusual features. This young woman, who suffered from rapidly progressive frontotemporal dementia (FTD) and features of primary lateral sclerosis (PLS), died at age 29. Neuropathological examination disclosed numerous neuronal cytoplasmic inclusions in many regions of the central nervous system. The inclusions varied in morphology with some being immunoreactive for ubiquitin while others showed strong positivity for neurofilament proteins. Intranuclear neuronal inclusions were also present. There was no significant tau or alpha-synuclein pathology. There was severe degeneration of the corticospinal tracts but lower motor neurons were normal in number and morphology. This case confirms that NIBD should be considered in the differential diagnosis of FTD, particularly in young patients. In addition, it extends the clinical phenotype of NIBD to include PLS and better defines the anatomical distribution and morphology of the pathological lesions.- - - - - - - - - - ranking = 0.5keywords = central nervous system, nervous system (Clic here for more details about this article) |
9/25. Unusual findings in brain biopsies of two patients with acute magnetic resonance imaging lesions associated with focal seizures.PURPOSE: patients with focal seizures often have magnetic resonance imaging (MRI) abnormalities in the brain region of their presumed seizure focus. neoplasms, ischemic infarctions, inflammatory processes, and other specific pathologic entities have been diagnosed by biopsies of such MRI abnormalities. Two patients with this presentation had brain lesion biopsies with a leading presumptive diagnosis of glial neoplasm but were found to have indistinct histopathology. methods: Each patient was initially seen with focal seizures (right parietal region, right hippocampus) corresponding with focally increased T2 signal on MRI. In both patients, the preoperative clinical suspicion was for neoplastic or inflammatory processes. RESULTS: Several weeks after seizure onset, craniotomy in patient 1 and stereotactic needle biopsy in patient 2 revealed mild gliosis with reactive vascular changes and perivascular hemosiderin deposition, not diagnostic of but compatible with venous congestion (or possibly venous thrombosis). Postoperatively, patient 1 had brief sensory seizures that stopped 5 months after surgery, whereas subsequent seizures did not develop in patient 2. Both patients had normalization of their MRI (except for postoperative changes) and have remained seizure free. CONCLUSIONS: We describe two patients who had brain biopsies of striking focal increased T2 signal MRI abnormalities associated with seizures. Pathologic findings contradicted our preoperative suspicions (neoplasm or inflammatory process), compatible with (but not conclusive for) subacute venous congestion/thrombosis. These findings indicate that patients with seizures may have an associated discrete intraaxial MRI lesion that is not neoplastic. To our knowledge, this is the first report of focal seizure-associated MRI lesions with biopsy findings compatible with venous congestion/thrombosis.- - - - - - - - - - ranking = 0.017098504595341keywords = neoplasm (Clic here for more details about this article) |
10/25. Forensic issues and possible mechanisms of sudden death in rett syndrome.A 20-year-old female with an established diagnosis of rett syndrome was found dead in bed. There had been no history of recent deterioration in health and at autopsy no acute lesions were found. There was no evidence of trauma. Toxicological analysis of blood revealed therapeutic levels of carbamazepine and clonazepam. Death was attributed to the complications of rett syndrome, an uncommon developmental disorder characterized by autistic type behaviour, hypotonia, stereotyped movements, seizures and growth failure, caused by mutations in the MECP2 gene on the x chromosome. Establishing the precise cause of sudden death in individuals with rett syndrome may be difficult as epilepsy, defective autonomic nervous system control and cardiac arrhythmias may relate more to functional problems rather than to defects that can be demonstrated at autopsy. Thus, although there are a variety of well-documented underlying mechanisms that may cause sudden death in this condition, determining the exact sequence of events in an unwitnessed death may be more by inference and elimination, given the absence of pathognomonic and acute lethal lesions that are able to be found histopathologically. 'Complications of rett syndrome' may, therefore, be the most accurate designation when individuals with this condition are found unexpectedly dead and no anatomical cause of death can be identified at autopsy.- - - - - - - - - - ranking = 0.15367917163216keywords = nervous system (Clic here for more details about this article) |
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