1/63. Fatal poisoning from liquid dimethylmercury: a neuropathologic study.Since ancient times, mercury has been recognized as a toxic substance. Dimethylmercury, a volatile liquid organic mercury compound, is used by a small number of chemistry laboratories as a reference material in nuclear magnetic resonance spectroscopy. To our knowledge, dimethylmercury has been reported in only three cases of human poisoning, each proving fatal. Very small amounts of this highly toxic chemical can result in devastating neurological damage and death. We report the neuropathologic findings in a fatal case of dimethylmercury intoxication occurring in a laboratory researcher that resulted from a small accidental spill. We compare these findings to those reported in one previously reported fatal case of dimethylmercury poisoning, and to earlier reports of monomethylmercury poisoning, and discuss the clinicopathologic correlation.- - - - - - - - - - ranking = 1keywords = spectroscopy (Clic here for more details about this article) |
2/63. Clinical spectrum of chromosome 6-linked autosomal dominant drusen and macular degeneration.PURPOSE: To describe the clinical phenotype and the intrafamilial variation in retinal findings in a North American family with an autosomal dominant drusen disorder that maps to chromosome 6q14. methods: Ophthalmic examinations were carried out on participating family members. Fundus photographs were obtained whenever possible. electroretinography was performed on the proband and her father. Blood was drawn for dna analysis. RESULTS: Twelve family members had drusen and/or atrophic macular degeneration. The disease in asymptomatic young adults is characterized by fine drusen that are most conspicuous in the macula. The proband presented at 3 years of age with atrophic maculopathy and drusen. Her cousin was found to have atrophic macular lesions and drusen in the first year of life. Two older affected individuals have reduced vision from cicatricial and atrophic macular changes. The gene for the disease was mapped to chromosome 6q14 and appears to be adjacent to but distinct from the locus for north carolina macular dystrophy. CONCLUSIONS: There is extreme variability in the clinical expression of this dominant form of drusen and macular degeneration. Most young adults have fine macular drusen and good vision. Affected infants and children may have congenital atrophic maculopathy and drusen. There is historical evidence of progression of the disease in late adulthood with moderate visual loss.- - - - - - - - - - ranking = 0.055398726000993keywords = spectrum (Clic here for more details about this article) |
3/63. Proton magnetic resonance spectroscopy of a patient with gerstmann-straussler-scheinker disease.A 23-year-old woman with gerstmann-straussler-scheinker disease (GSS) was investigated by 1H-magnetic resonance spectroscopy (1H-MRS). She developed gait ataxic at 22 years. The diagnosis was confirmed by dna analysis showing a proline-to-leucine point mutation at codon 102 of the prion protein. On 1H-MRS, she showed a remarkable reduction of the N-acetylaspartate/creatine ratio in the frontal lobe, cerebellar hemisphere and vermis and putamen. MRI revealed mild atrophy of the cerebellar hemispheres and vermis and cerebral cortex, but single-photon emission computed tomography (SPECT) with 99mHMPAO showed normal perfusion in the cerebellum. The imaging studies suggest that MRS might be superior to MRI or SPECT for detection of early neuronal degeneration.- - - - - - - - - - ranking = 5keywords = spectroscopy (Clic here for more details about this article) |
4/63. Severe anterograde amnesia with extensive hippocampal degeneration in a case of rapidly progressive frontotemporal dementia.frontotemporal dementia (FTD) is usually characterized as a spectrum of relatively slowly progressive disorders with largely focal frontal or temporal presentations. The development of clinical and research criteria for discriminating FTD from Alzheimer's disease has relied, in part, on the relative preservation of episodic memory in FTD. We present a patient with FTD who, in addition to the more typical behavioural and language deficits, had a profound anterograde amnesia at the time of diagnosis. neuroimaging confirmed atrophy of frontal and temporal lobes bilaterally, most marked in the anterior left temporal region. At post-mortem, non-Alzheimer pathology resulting in devastating cell loss was revealed in the hippocampi, as well as in the frontal and temporal cortex, thus providing neuroanatomical corroboration of the episodic memory deficit. Progression of the disease was extraordinarily rapid, with just 2 years between reported onset and time of death. This case demonstrates that the pattern of FTD may include severe anterograde amnesia as a prominent and early consequence of the disease.- - - - - - - - - - ranking = 0.013849681500248keywords = spectrum (Clic here for more details about this article) |
5/63. MR brain imaging of fucosidosis type I.SUMMARY: fucosidosis is a rare autosomal recessive lysosomal storage disease with the main clinical findings of progressive neuromotor deterioration, seizures, coarse facial features, dysostosis multiplex, angiokeratoma corporis diffusum, visceromegaly, recurrent respiratory infections, and growth retardation. fucosidosis type I rapidly evolves toward a progressive neurologic deterioration and death. We report MR imaging findings of the brain of three patients with fucosidosis type I, including previously unreported findings, to expand the knowledge of the neuroradiologic spectrum of the disease.- - - - - - - - - - ranking = 0.013849681500248keywords = spectrum (Clic here for more details about this article) |
6/63. gerstmann syndrome in systemic lupus erythematosus: neuropsychological, neuroimaging and spectroscopic findings.gerstmann syndrome (GS) comprises four interlaced neuropsychological symptoms including finger agnosia, right-left confusion, agraphia, and acalculia. While GS is commonly associated with focal lesions to the region of the left angular gyrus, it has also been associated with numerous diffuse etiologies including atrophy, alcoholism, carbon monoxide poisoning, lead intoxication and anaphylactic shock. Thus, a vigorous debate has emerged as to whether GS represents a syndrome arising from general brain decline or a distinct and localizing lesion. We report a right-handed patient who developed neuropsychological dysfunction secondary to systemic lupus erythematosus (SLE). Neuropsychological evaluation found the patient to exhibit symptoms consistent with the GS tetrad, as well as general cognitive decline. magnetic resonance imaging revealed a distinct focal lesion of the left parieto-occipital white matter underlying the angular gyrus as well as diffuse atrophy. (1)H-magnetic resonance spectroscopy revealed substantial metabolic derangement in a voxel placed within the visible lesion, although substantial metabolic derangement was observed in regions remote from the focal pathology. Thus, GS in this first case in SLE would appear to comprise a focal neurological tetrad of disorders within a more general pattern of cognitive decline and metabolic derangement.- - - - - - - - - - ranking = 1keywords = spectroscopy (Clic here for more details about this article) |
7/63. Patterns of cerebral atrophy in primary progressive aphasia.The authors illustrate the spectrum of clinical and imaging patterns in primary progressive aphasia (PPA), a syndrome of slowly progressive speech and language impairment occurring with neurodegenerative disease. Although PPA presents with relatively isolated impairment in language, many patients progress to global cognitive or behavioral dysfunction. The syndrome may be associated with frontotemporal dementia (FTD)- or alzheimer disease (AD)-type changes. Authors describe the clinical presentation in three cases of PPA and analyze the pattern of cerebral atrophy in each case with voxel-based morphometry. Two patients presented with nonfluent progressive aphasia. Subtle differences in the clinical features were suggestive of FTD in one case and AD in the other. neuroimaging revealed a predominance of frontal atrophy in the first case and temporo-parietal atrophy in the second. The third case presented with the syndrome of semantic dementia and showed the typical behavioral problems associated with FTD and a pattern of left-greater-than-right temporal atrophy. Different clinical syndromes in PPA are associated with different patterns of atrophy. In the future, combined analysis of imaging and clinical characteristics may allow more accurate etiologic diagnosis.- - - - - - - - - - ranking = 0.013849681500248keywords = spectrum (Clic here for more details about this article) |
8/63. Wide clinical variability in a family with a CACNA1A T666m mutation: hemiplegic migraine, coma, and progressive ataxia.We report a Japanese family carrying a T666M missense mutation of CACNA1A. Affected members demonstrated a strikingly wide clinical spectrum including migraine, hemiplegia, coma, and progressive cerebellar ataxia. Despite such variability of the clinical features, they demonstrated similar magnetic resonance imaging findings demonstrating cerebellar atrophy predominantly of the cerebellar vermis. These magnetic resonance images appeared not to correlate with clinical severity. Our findings should indicate that a T666M mutation of CACNA1A may be associated with more variable clinical features and that paroxysmal hemiplegic migraine attacks and progressive cerebellar atrophy should have distinct mechanisms of pathogenesis.- - - - - - - - - - ranking = 0.013849681500248keywords = spectrum (Clic here for more details about this article) |
9/63. Autosomal dominant chorea-acanthocytosis with polyglutamine-containing neuronal inclusions.BACKGROUND: The term chorea-acanthocytosis describes a heterogeneous group of neurodegenerative disorders with variable clinical features and modes of inheritance. The characteristic acanthocytic appearance of red blood cells is attributed to abnormalities of a membrane protein, band 3, although the relationship between this and the neurodegenerative process has yet to be determined. OBJECTIVE: To describe features of phenotype, inheritance, and neuropathological findings in a family with this disorder. methods: Clinical and hematologic evaluations were performed on all available family members and neuropathological examination was performed on one case. RESULTS: Autosomal dominant inheritance was evident, with variable clinical features of chorea or parkinsonism, marked cognitive changes, but no seizures or peripheral neurologic abnormalities. Abnormalities of band 3 were demonstrated on gel electrophoresis of red blood cell membranes. Neuropathological examination revealed severe neuronal loss of the caudate-putamen and intranuclear inclusion bodies in many areas of the cerebral cortex. These inclusion bodies were immunoreactive for ubiquitin, expanded polyglutamine repeats, and torsinA. CONCLUSIONS: This family extends the genetic spectrum of chorea-acanthocytosis to include autosomal dominant inheritance, possibly due to expanded trinucleotide repeats. Intraneuronal inclusion bodies have recently been associated with a wide range of inherited neurodegenerative disorders and may provide a clue to etiopathogenesis, in addition to potentially indicating a function of torsinA.- - - - - - - - - - ranking = 0.013849681500248keywords = spectrum (Clic here for more details about this article) |
10/63. Evans syndrome in a patient with chromosome 22q11.2 deletion syndrome: a case report.One patient with a chromosome 22q11.2 deletion and Evans syndrome is reported in this paper. Microdeletions of 22q11.2 are the main etiology for digeorge syndrome, a disorder characterized by heart defects, immune deficiencies due to aplasia or hypoplasia of the thymus, and hypocalcemia. Evans syndrome refers to a hematological autoimmune disorder with autoimmune hemolytic anemia accompanied by immune thrombocytopenia. A wide range of autoimmune disorders have been described in digeorge syndrome and velocardiofacial syndrome, including one prior report of autoimmune hemolytic anemia and immune thrombocytopenia. The patient reported herein strengthens the association between the 22q11.2 deletion spectrum and Evans syndrome.- - - - - - - - - - ranking = 0.013849681500248keywords = spectrum (Clic here for more details about this article) |
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