Journal of the neurological sciences
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Langerhans cell histiocytosis (LCH) with multiple organ involvement is a rare disorder in adults. Extrapituitary involvement of the central nervous system (CNS) is uncommon. We report the unusual case of a 55-year-old woman presenting with a left-sided hemiataxia-hemiparesis, left hemisensory loss and short-lasting episodes of an alien left hand due to lesions of the internal capsule and the right thalamus, extending into the mesencephalon associated with extensive surrounding edema, without pituitary involvement. ⋯ Brain biopsy revealed inflammatory tissue and "pseudotumoral" multiple sclerosis was suspected. Biopsy of concomitant lung and bone lesions disclosed Langerhans cell histiocytosis. The treatment with pulsed steroids in association with mycophenolate mofetil led to a sustained, clinical neurological remission.
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Case Reports
Chronic non-paroxysmal neuropathic pain - Novel phenotype of mutation in the sodium channel SCN9A gene.
Gain-of-function mutations in the SCN9A gene (encoding to NaV1.7 voltage-gated sodium channel) cause two rare paroxysmal pain disorders: inherited erythromelalgia (IEM) and paroxysmal extreme pain disorder (PEDP). These phenotypes are characterized by episodic extreme localized pain with cutaneous autonomic signs. So far, no other phenotypes have been associated with mutation in the SCN9A gene. ⋯ SCN9A mutations cause pain syndromes other than IEM and PEPD. These mutations should be considered in patients with resistant unexplained chronic neuropathic pain.
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In cerebral ischemia, transmission by the inhibitory neurotransmitter, γ-aminobutyric acid (GABA) is altered. This study was performed to determine whether blockade of GABA(A) receptor would affect regional cerebral blood flow (rCBF) and blood-brain barrier (BBB) permeability in a focal ischemic area of the brain. Rats were anesthetized with isoflurane and mechanically ventilated. ⋯ Blockade of GABA(A) receptors did not significantly affect rCBF or BBB permeability in the non-ischemic brain regions under isoflurane anesthesia. Our data demonstrated that blockade of GABA(A) receptors increased rCBF and enhanced the BBB disruption in focal cerebral ischemia. Our data suggest that GABA(A) receptors are involved, at least in part, in modulating rCBF and BBB disruption in focal cerebral ischemia.
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Degos' disease or malignant atrophic papulosis is a rare disseminated occlusive vasculopathy affecting the skin, gastrointestinal tract, central nervous system, and less often other organ systems. The exact etiology of this vasculopathy has not been established. ⋯ Here, we report the clinical, radiological and histopathologic features of Degos' disease in a 41-year-old man following streptococcal throat infection. Prior postulated hypothesis as post-infectious immunologic mechanism may be further supported by this case.
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Up to 15-25% of patients with ischemic stroke wake up with their deficits. Because of the uncertainty about the time of onset, these patients are generally not offered thrombolytic therapy. Some of these wake-up stroke patients may be eligible for acute endovascular stroke therapy based on hyperacute CT or MR imaging independent of the time window. ⋯ Some patients who present with stroke on awakening may be candidates for thrombolytic therapy or recanalization techniques irrespective of mode of therapy (intravenous, intravenous+intra-arterial or intra-arterial tPA alone). Further randomized, controlled studies are warranted to safely identify those candidates who would benefit from thrombolysis and endovascular interventions in ischemic wake-up strokes.