Cases reported "Ataxia"

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1/20. Asymmetric sweating in a child with multiple sclerosis.

    A 10-year-old male with multiple sclerosis complained of excessive sweating on the right side of the forehead and shoulder on relapse 3 months after the onset of multiple sclerosis. Because the neurologic evaluation revealed no abnormalities in the sudomotor function, it is likely that the hyperhidrosis resulted from a lesion in the central or preganglionic sympathetic nervous system. magnetic resonance imaging demonstrated a high-intensity lesion involving the left hypothalamus on T(2)-weighted imaging. Thus hypothalamic involvement might be the reason for the hyperhidrosis in this patient.
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ranking = 1
keywords = multiple sclerosis, sclerosis
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2/20. multiple sclerosis presenting as ataxic hemiparesis.

    multiple sclerosis (MS) can present with many clinical pictures, but only rarely as a lacunar syndrome. The following case presentation is of multiple sclerosis with initial presentation as ataxic hemiparesis (AH), indistinguishable from the vascular syndrome. This case serves to illustrate that even classic lacunar syndromes can actually be the initial manifestation of multiple sclerosis and that other etiologies besides ischemic stroke need to remain in the differential diagnosis until a definitive has been concluded.
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ranking = 0.36473206018611
keywords = multiple sclerosis, sclerosis
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3/20. Improving mobility and community access in an adult with ataxia.

    This case report summarizes the evaluation and treatment used to provide occupational therapy services to a man living with multiple sclerosis. Primary impairments included ataxia, paraparesis, and decreased endurance. The focus of this case study was on improving the client's ability to use powered mobility to access the community despite severe ataxia. A task-oriented approach was used as a frame of reference to guide the evaluation and intervention process. The primary goals of intervention were to control the degrees of freedom required for task participation and simultaneously increase postural stability, resulting in independent control of a power wheelchair. A combination of occupational therapy interventions is illustrated, including assistive technology, positioning, orthotic prescription, and adaptation of movement patterns.
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ranking = 0.16666666666667
keywords = multiple sclerosis, sclerosis
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4/20. Paroxysmal ataxic dysarthria.

    This report reviews 13 cases in which a dysarthria appeared, remitted, and reappeared within seconds. The speech pattern of each case was characteristic of ataxic dysarthria. A cinefluorographic film for one of the subjects provided a rare opportunity to study the articulatory dynamics of this disorder. multiple sclerosis either was given as a diagnosis or was strongly suspected in each case, and carbamazepine has been an effective treatment. Speculations concerning the origin of the paroxysmal and ataxic character of the dysarthria are presented along with a preliminary checklist for identifying the disorder.
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ranking = 0.0062797453705555
keywords = sclerosis
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5/20. Improvement of upper limb ataxia and intention tremor allowing cessation of thalamic electrostimulation after four years.

    A 34-year-old female patient suffering from multiple sclerosis was treated with thalamic electrostimulation for right dominant brachial ataxia and intention tremor. At the end of the fourth year, the energy of the battery of the impulse generator was depleted. However, the patient was able to use her hands without major impairment with the stimulator OFF; due to a stable reduction of the degree of ataxia and intention tremor. The opposite thalamus received an electrode that was never activated because of a permanent thalamotomy effect. Thus, it can be concluded that restoration of function by means of deep brain stimulation might have been beneficial towards achieving a reorganization and stabilization of subcortico-cortical and cerebellar circuitry, supporting the process of self-repair in this patient with a less aggressive course of multiple sclerosis. However, scientific proof has yet to be found. This exceptional observation emphasizes the need for longterm studies.
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ranking = 0.33333333333333
keywords = multiple sclerosis, sclerosis
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6/20. Progressive multifocal leukoencephalopathy in a patient treated with natalizumab.

    We describe the clinical course of a patient with multiple sclerosis in whom progressive multifocal leukoencephalopathy (PML), an opportunistic viral infection of the central nervous system, developed during treatment with interferon beta-1a and a selective adhesion-molecule blocker, natalizumab. The first PML lesion apparent on magnetic resonance imaging was indistinguishable from a multiple sclerosis lesion. Despite treatment with corticosteroids, cidofovir, and intravenous immune globulin, PML progressed rapidly, rendering the patient quadriparetic, globally aphasic, and minimally responsive. Three months after natalizumab therapy was discontinued, changes consistent with an immune-reconstitution inflammatory syndrome developed. The patient was treated with systemic cytarabine, and two months later, his condition had improved.
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ranking = 0.33333333333333
keywords = multiple sclerosis, sclerosis
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7/20. Chronic progressive sensory ataxic neuropathy associated with limited systemic sclerosis.

    We report the case of a 33-year-old woman with limited systemic sclerosis and chronic progressive sensory ataxic neuropathy. sural nerve biopsy showed loss of myelinated fibers mostly those of large diameter, axonal degeneration and infiltration of macrophages, but no signs of vasculitis. physical examination, laboratory testing, neurophysiological and neuroradiological examinations suggested that the dorsal root was primarily affected in this patient. Cytokine analysis by multiplex bead array assay revealed that IL-1beta and GM-CSF were increased both in serum and CSF. Although her symptoms did not respond to corticosteroid therapy, intravenous immunoglobulin (IVIg) therapy resulted in marked improvement. IVIg could be effective in case of immune-mediated reversible neuronal dysfunction associated with collagen disease without vasculitis.
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ranking = 0.28967233404843
keywords = chronic progressive, sclerosis
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8/20. Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease.

    A severe recessive cerebellar ataxia, Ataxia-Oculomotor Apraxia 2 (AOA2) and a juvenile onset form of dominant amyotrophic lateral sclerosis (ALS4) result from mutations of the Senataxin (SETX) gene. To begin characterization this disease protein, we developed a specific antibody to the dna/rna helicase domain of SETX. In murine brain, SETX concentrates in several regions, including cerebellum, hippocampus and olfactory bulb with a general neuronal expression profile, colocalizing with NeuN. In cultured cells, we found that SETX was cytoplasmically diffuse, but in the nucleus, SETX was punctate, colocalizing with fibrillarin, a marker of the nucleolus. In differentiated non-cycling cells, nuclear SETX was not restricted to the nucleolus but was diffuse within the nucleoplasm, suggesting cell-cycle-dependent localization. SETX missense mutations cluster within the N-terminus and helicase domains. Flag tagging at the N-terminus caused protein mislocation to the nucleoplasm and failure to export to the cytoplasm, suggesting that the N-terminus may be essential for correct SETX localization. We report here the first characterization of SETX protein, which may provide future insights into a new mechanism leading to neuron death.
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ranking = 0.0062797453705555
keywords = sclerosis
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9/20. Ataxia and deafness in a young male: an unusual aetiology.

    We report here a case of 18 year old male with tremors of hands, deafness, tendency to fall while walking, drowsiness and double vision of total duration 1(1/2) years. He had internuclear ophthalmoplegia, broken saccades, hypertonia and hyperreflexia of all four limbs, intention tremors, signs of gait and limb ataxia. Pupillary reactions and fundus examination were normal and signs of meningeal irritation or sensory neurological deficit were absent. MRI head and cervical spine with gadolinium enhancement revealed demyelination as evident from multiple oblong foci isointense on T1-weighted images and hyperintense on T2-weighted and fluid attenuated inversion recovery sequences in corpus callosum, sub-cortical white matter, right thalamus, pons and periaqueductal region of midbrain. Ill-defined linear hyperintense signals were observed in cervical spinal cord. No skeletal abnormality was noted in the skull or cervical spine. oligoclonal bands were present in the cerebrospinal fluid. Brainstem auditory evoked potentials were abnormal, although visual evoked potentials were in normal range. A diagnosis of primary progressive multiple sclerosis (PPMS) was made fulfilling the revised criteria as laid down. In view of its presentation, it is a unique case of PPMS from india.
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ranking = 0.16666666666667
keywords = multiple sclerosis, sclerosis
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10/20. diabetes insipidus in a patient with suspected multiple sclerosis.

    A 53-year-old man developed spastic ataxia associated with diabetes insipidus. The patient experienced frequent attacks of stiffness and numbness of the four limbs accompanied by difficulty of speech. During an eight years' follow-up a progressive deterioration of the motor function was observed but no extracerebral manifestations were noticed. The association of spastic ataxia is generally considered as diagnostic of histiocytosis X. In the present case, however, multiple sclerosis seems a more likely diagnosis in view of the late onset and the highly characteristic brain stem seizures.
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ranking = 0.83333333333333
keywords = multiple sclerosis, sclerosis
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