1/20. 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) |
2/20. 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) |
3/20. 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) |
4/20. 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 = 0.15368456679709keywords = nervous system (Clic here for more details about this article) |
5/20. 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 = 0.15368456679709keywords = nervous system (Clic here for more details about this article) |
6/20. 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) |
7/20. 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 = 0.15368456679709keywords = nervous system (Clic here for more details about this article) |
8/20. giant axonal neuropathy and leukodystrophy.An 11-year-old Persian boy, born to consanguineous parents, manifested a progressive gait abnormality beginning at 5 years of age. A severe cerebellar disorder developed with associated dysfunction of the peripheral nervous system, but no sign of mental impairment. The sensory and motor nerve conduction velocities were greatly reduced, especially in the lower extremities. cerebrospinal fluid protein was normal. Computed tomography and magnetic resonance imaging revealed leukoencephalopathy, especially in the cerebellum, but also in periventricular areas. The diagnosis of giant axonal neuropathy was established by biopsy of the sural nerve. The few previous histologic examinations have documented hyperplasia of the microfibrils which accumulate in the axons as well as in neurilemma, endothelial, and perineural cells. This is the first report of involvement of supraspinal portions of the central nervous system documented by postmortem examination after in vivo imaging methods corroborated the morphologic concomitants of the clinical symptoms.- - - - - - - - - - ranking = 0.65368456679709keywords = central nervous system, nervous system (Clic here for more details about this article) |
9/20. Thalamic dementia and motor neuron disease.A 46-year-old woman developed a progressive neurologic disorder over the course of 30 months which was characterized by profound dementia complicated by a motor neuron disorder that became evident 10 months prior to death. Postmortem examination of the nervous system disclosed extensive neuronal loss and gliosis of the thalamus, predominantly involving the dorsomedial nuclei, as well as severe degeneration of the corticospinal tracts, spinal anterior horns, and hypoglossal nuclei. The disease could not be transmitted to experimental animals by intracerebral inoculation of the patient's brain tissue. This case represents a unique dementing disorder, possibly familial, with associated motor neuron disease.- - - - - - - - - - ranking = 0.15368456679709keywords = nervous system (Clic here for more details about this article) |
10/20. Progressive aphasia without dementia: two cases with focal spongiform degeneration.Two patients with the syndrome of progressive aphasia without evidence of generalized dementia underwent postmortem neuropathological examinations. In both patients, characteristic changes of Alzheimer's disease, Pick's disease, or Creutzfeldt-Jakob disease were absent. Both patients showed a focal spongiform change involving primarily layer 2 of the left inferior frontal gyrus (and temporal cortex in Patient 1) and a mild astrocytosis in layer 2 and deeper cortical layers. This focal, spongiform cortical degeneration in patients with progressive aphasia does not appear to duplicate any known central nervous system degenerative disease.- - - - - - - - - - ranking = 0.5keywords = central nervous system, nervous system (Clic here for more details about this article) |
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