Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Jun 2004
Case ReportsDNA end labelling (TUNEL) in a 3 year old girl with Leigh syndrome and prevalent cortical involvement.
Neuropathological study of a 3 1/2 year old girl with familial Leigh syndrome who also harboured a rare ATPase gene mutation disclosed extensive and unusual lesions in the cerebral cortex, despite a typical histological pattern. Early lesions in the periacqueductal grey matter of the brainstem, characterised by capillary congestion and initial regressive neuronal changes, were also observed, along with TUNEL reactive neuronal cells showing morphological signs typical of apoptosis in cortical areas with neuronal cell loss. The finding of lesions in atypical brain areas and for the first time, very early regressive neuronal phenomena, suggest that early changes in crucial brain areas may have been a cause of death. The abundance of TUNEL positive nuclei in cortical areas in the present case suggests that the apoptosis may be involved in the mechanism of neuronal death in Leigh syndrome.
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J. Neurol. Neurosurg. Psychiatr. · Jun 2004
Dura-arachnoid lesions produced by 22 gauge Quincke spinal needles during a lumbar puncture.
The dural and arachnoid hole caused by lumbar puncture needles is a determining factor in triggering headaches. The aim of this study is to assess the dimensions and morphological features of the dura mater and arachnoids when they are punctured by a 22 gauge Quincke needle having its bevel either in the parallel or in the transverse position. ⋯ It is believed that the reported lower frequency of postdural puncture headache when the needle is inserted parallel to the cord axis should be explained by some other factors besides the size of the dura-arachnoid injury.
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J. Neurol. Neurosurg. Psychiatr. · Jun 2004
Case ReportsWilson's disease: diagnostic errors and clinical implications.
Therapeutic outcome of Wilson's disease (WD) significantly depends upon its early recognition. However, because of its rarity in community and protean manifestations, the diagnosis and treatment are often delayed. ⋯ Awareness among health professionals about varied presenting features of WD and high index of suspicion may have prognostic implications.
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J. Neurol. Neurosurg. Psychiatr. · Jun 2004
Case ReportsEvolution of MRI changes and development of bilateral hippocampal sclerosis during long lasting generalised status epilepticus.
This report describes a previously healthy 28 year old patient with a 5 month period of intractable generalised status epilepticus (SE) of unknown aetiology with fatal outcome. Repeated magnetic resonance imaging (MRI) showed no pre-existing abnormality, but did show progressive cortical and hippocampal atrophy and T2 hyperintensity in both hippocampal formations, suggestive of progressive tissue damage. ⋯ There was no evidence of systemic complications including arterial hypotension and hypoxia, hypoglycaemia, hyperpyrexia, or other confounding factors to account for these findings. This case provides further evidence of SE induced hippocampal damage in humans.