Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 39-years-old woman was admitted to our hospital with musculoskeletal complaints (myalgias and symmetric arthralgias in proximal interphalangeal, metacarpophalangeal joints of the hands and in knees), systemic symptoms like fever, fatigue, malaise and a six months previous history of a transient ischemic attack. The presence of antibodies to double-stranded deoxyribonucleic-acid (DNA) and antiphospholipid antibodies led to the diagnosis of systemic lupus erythematosus with secondary antiphospholipid syndrome. Cerebral infarction develops significantly more often in patients with lupus and antiphospholipid antibodies, but other clinical syndromes are associated with lupus anticoagulant: cognitive dysfunction, seizures, polyneuropathy, aseptic meningitis, myelopathy.
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PMID:[Systemic lupus erythematosus with neurologic onset and secondary antiphospholipid syndrome. A Case Study]. 1660 81

Children with sickle cell disease are at risk of developing neurologic complications, including stroke, transient ischemic attack, seizures, coma, and a progressive reduction in cognitive function. Transcranial Doppler ultrasound, magnetic resonance imaging, and overnight pulse oximetry appear to predict, making prevention an achievable goal so that there is now a focus on randomized controlled trials. The Stroke Prevention Trial in Sickle Cell Anemia (STOP) reported a reduction in the number of overt clinical strokes experienced by those children with critically high transcranial Doppler velocities (>200 centimeters per second) who were chronically transfused. Two additional Phase III studies and two pilot trials have been funded. STOP II focused on whether it is safe to discontinue blood in prophylactically transfused children when their velocities had remained normal for at least 30 months. The Silent Infarct Transfusion trial is designed to determine whether children with sickle cell anemia and silent cerebral infarcts, approximately 20% of the population, will have a decrease in the progressive neurologic complications after receiving regular blood transfusion therapy. Pilot safety and feasibility trials of low-dose aspirin and overnight respiratory support are also beginning. The collaboration provides an infrastructure for future clinical trials in this vulnerable group of children.
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PMID:Trials in sickle cell disease. 1676 23

The association between dermatomyositis and restrictive cardiomyopathy has not been reported before. We present here the clinical, echocardiographic and muscle biopsy data for a patient with dermatomyositis and restrictive cardiomyopathy. In a 78-year-old male with a history of arterial hypertension, recurrent episodes of atrial fibrillation and syncopes, rupture of an infra-renal aortic aneurysm with complications (recurrent QT-prolongation, lumbo-sacral plexopathy, transient ischaemic attack, peripheral embolism), monoclonal gammopathy, subdural haematoma, focal seizures, megaloblastic anaemia, leucopenia, eosinophilia, elevated muscle enzymes and increasing tiredness, dermatomyositis was diagnosed upon clinical presentation, muscle enzyme and muscle biopsy findings. Cardiological examination revealed atrial fibrillation, left anterior hemiblock and restrictive cardiomyopathy. After the exclusion of various differentials for restrictive cardiomyopathy, a causative relationship between restrictive cardiomyopathy and dermatomyositis was assumed. This case suggests the need for suspecting restrictive cardiomyopathy in patients with dermatomyositis. Patients with dermatomyositis should undergo a comprehensive cardiological investigation as soon as the neurological diagnosis is established.
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PMID:Restrictive cardiomyopathy in dermatomyositis. 1676 71

The importance of cerebral disease in patients with the Hughes syndrome is now becoming more widely recognized. The range of neuropsychiatric manifestations of APS is comprehensive, and includes focal symptoms attributable to lesions in a specific area of the brain as well as diffuse or global dysfunction. Patients with APS frequently present with strokes and TIA, but a wide spectrum of other neurologic features-also including non thrombotic neurologic syndromes-has been described in association with the presence of aPL. The recognition of APS has had a profound impact on the understanding and management of the treatment of CNS manifestations associated with connective tissue diseases, in particular, SLE. Many patients with focal neurologic manifestations and aPL, who a few years ago would have received high-dose corticosteroids or immunosuppression, are often successfully treated with anticoagulation. In our opinion, testing for aPL may have a major diagnostic and therapeutic impact not only in patients with autoimmune diseases and neuropsychiatric manifestations, but also in young individuals who develop cerebral ischemia, in those with atypical multiple sclerosis, transverse myelitis, and atypical seizures. We would also recommend testing for aPL for young individuals found with multiple hyperintensity lesions on brain MRI in the absence of other possible causes,especially when under the age of 40 years. It is our practice to anticoagulate patients with aPL suffering from cerebral ischemia with a target INR of 3.0 to prevent recurrences. Low-dose aspirin alone (with occasional exceptions)does not seem helpful to prevent recurrent thrombosis in these patients. Our recommendation, once the patient has had a proven thrombosis associated with aPL, is long-term (possibly life-long) warfarin therapy. Oral anti coagulation carries a risk of hemorrhage, but in our experience the risk of serious bleeding in patients with APS and previous thrombosis treated with oral anticoagulation to a target INR of 3.5 was similar to that in groups of patients treated with lower target ratios. Although a double-blind crossover trial comparing low molecular weight heparin with placebo in patients with aPL and chronic headaches did not show a significant difference in the beneficial effect of low molecular weight heparin versus placebo, in our experience selected patients with aPL and neuropsychiatric manifestations such as seizures, severe cognitive dys-function, and intractable headaches unresponsive to conventional treatment may respond to anticoagulant treatment. The neurologic ramifications of Hughes syndrome are extensive, and it behoves clinicians in all specialties to be aware of this syndrome because treatment with anticoagulation may profoundly change the outlook for these patients.
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PMID:Cerebral manifestations in the antiphospholipid (Hughes) syndrome. 1688 79

This review summarizes the major neuro-ophthalmologic manifestations of epilepsy. Positive or negative visual manifestations such as hallucinations or visual loss may be seen. There is considerable overlap of the visual manifestations with migrainous aura and transient ischemic attack (TIA), making a detailed history important for accurate diagnosis. Oculomotor manifestations, such as tonic eye deviation, are often recognized to have localizing value. Nystagmus or repetitive blinking may be present and offer clues in clinically subtle seizures.
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PMID:Neuro-ophthalmologic manifestations of epilepsy. 1718 13

Stroke is a major public health burden worldwide and is responsible for a large proportion of disability; and ranks third in the causation of morbidity and mortality. This disease although regarded as a disease of old age, it is not uncommon in younger population in developing countries.. A retrospective study of cerebro-vascular accidents (stroke) managed at Department of Medicine, Nepal Medical College Teaching Hospital during the period of 1st April 2000 to 31st March 2005 was done to study demographics and risk factors. Cases of TIA were not included in the final analysis of the data due to uncertainty of diagnosis and lack of imaging (CT scan). The collected data was analyzed using data analysis software SPSS (version 12). We identified 72 cases of stroke excluding TIA. The mean age at which patients in this study experienced their first ever stroke was 61.7 yrs (SD 14.9 yrs). The commonest presenting complaints in our study population were weakness of limbs (90.3%), slurring of speech (33.3%), altered mental status (29.8%), deviation of angle of mouth and headache (22.2%) each and urinary incontinence (13.9%). Vomiting, dizziness, fever, personality changes, seizure, tingling sensation of limbs were uncommon clinical presentation and were present in 15.28% of cases. Risk factors were smoking (58.3%), hypertension (47.2%), alcohol (41.4%), atrial fibrillation (12.5%) and diabetes mellitus (11.1%). To conclude, stroke in countries like Nepal is a public health problem. The clinical presentations and risk factors are in agreement with other studies. The low mean age of stroke patient reflects demographic feature of this region.
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PMID:Retrospective analysis of stroke and its risk factors at Nepal Medical College Teaching Hospital. 1735 48

Children with sickle cell disease, a chronic hemolytic anemia, present with a wide variety of neurological syndromes, including ischemic and hemorrhagic stroke, transient ischemic attacks, 'soft neurological signs', seizures, headache, coma, visual loss, altered mental status, cognitive difficulties, and covert or 'silent' infarction. Those with ischemic stroke usually have stenosis or occlusion of the distal internal carotid and proximal middle cerebral arteries. Indefinite transfusion prevents recurrence in most patients who have had a stroke, and can prevent first stroke in those with high transcranial Doppler velocities. High white cell count, low hemoglobin and oxyhemoglobin desaturation predict neurological complications. Other risk factors for overt ischemic stroke include hypertension, previous transient ischemic attack, covert infarction and chest crisis. For hemorrhagic stroke, aneurysms are common in adults but not children, who often present with hypertension after transfusion or corticosteroids. Seizures are particularly common in patients with cerebrovascular disease and covert infarction; the latter is also associated with hyposplenism and infrequent pain. Factors associated with cognitive difficulties include thrombocytosis, infarction, large-vessel disease, and perfusion abnormality on neuroimaging. As well as investigating the role of genes and the possibility that hydroxyurea or blood pressure control reduce neurological complications, we should explore the modifiable effects of poor nutrition, chronic infection, hemolysis and oxyhemoglobin desaturation on stroke risk.
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PMID:Therapy insight: stroke risk and its management in patients with sickle cell disease. 1747 74

The involvement of the central nervous system (CNS) is one of the major causes of morbidity and mortality in systemic lupus erythematosus (SLE) patients and the less understood aspect of the disease. Its recognition and treatment continue to represent a major diagnostic and therapeutic challenge. Due to the lack of controlled randomized trials, current therapeutic approach is still empirical and based on clinical experience. The therapeutic choice depends on accurate diagnosis, identification of underlying pathogenic mechanism, severity of the presenting neuropsychiatric symptoms, and on prompt identification and management of contributing causes of CNS disease. Mild neuropsychiatric manifestations may need symptomatic treatment only. In more severe CNS disease it is important to distinguish between thrombotic and non-thrombotic mechanisms. Focal CNS manifestations, particularly TIA and stroke, are associated with the presence of antiphospholipid antibodies (aPL). Anticoagulation is warranted in patients with thrombotic disease, particularly in those with the antiphospholipid (Hughes) syndrome (APS). Other CNS manifestations, such as demyelinating syndrome, transverse myelitis, chorea, seizures, migraine and/or cognitive dysfunction, when associated with persistent positivity for aPL, may also benefit from anticoagulation in selected patients. Severe diffuse CNS manifestations, such as acute confusional state, generalised seizures, mood disorders and psychosis, generally require corticosteroids in the first instance. Pulse intravenous cyclophosphamide therapy may help when more severe manifestations are refractory to corticosteroids and other immunosuppressive agents, generally when response is not seen in 3-5 days. Plasmapheresis may also be added in severe cases of symptoms refractory to conventional treatment. Intravenous immunoglobulins, mycophenolate mofetil, rituximab, intratecal methotrexate and dexametasone deserve further studies to confirm their usefulness in the treatment of neuropsychiatric SLE. This article reviews the clinical approach to therapy in patients with SLE and neuropsychiatric involvement.
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PMID:Neuropsychiatric involvement in systemic lupus erythematosus: current therapeutic approach. 1853 50

Moyamoya disease is a rare, progressive cerebrovascular disorder that is characterized by a stenosis or occlusion of the bilateral internal carotid arteries and the development of collateral vessels. Transient ischemic attacks or seizures are the usual presentation of moyamoya disease in children, whereas cerebral hemorrhage is the most common symptom in adults. We report an 18-year-old female patient with active lupus nephritis who presented with the sudden onset of left hemiparesis. Brain magnetic resonance imaging showed acute infarctions in the right basal ganglia and subcortical white matter of the right frontal lobe. Cerebral angiography showed the stenosis of the bilateral internal carotid arteries with rich basal collateral vessels (moyamoya vessels). There was no evidence of atherosclerosis or antiphospholipid syndrome. Glucocorticoid therapy was used to control the systemic lupus erythematosus. Prophylactic bypass surgery was performed to prevent recurrent ischemic attacks. This case report shows that an underlying cerebrovascular lesion of moyamoya vessels in a patient with systemic lupus erythematosus is susceptible to cerebrovascular accidents.
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PMID:Moyamoya syndrome associated with systemic lupus erythematosus. 1862 42

Ballism is characterized by continuous, coarse, flinging involuntary movements involving the limbs. Although persistent involuntary movements caused by cerebrovascular diseases mostly in middle-aged patients are well known, transient involuntary movements are an unusual manifestation of cerebrovascular diseases. We describe a rare case of reversible ischemic neurologic deficit (RIND) presented as hemiballism. A 71-year-old man was admitted to our hospital for hemiballism in the right limbs. On magnetic resonance (MR) imagings, there was no evidence of acute ischemic stroke, but MR angiography revealed severe stenosis of left middle cerebral artery. Electroencephalogram showed no epileptic discharge. For hemiballism, chlorpromazine and haloperidol were administered in addition to antiplatelet management for ischemic attack, and the patient completely recovered on the 5 days of hospitalization. Transient ischemic attacks (TIA) or RIND typically present with neurological deficits such as loss of muscle power, reduced sensation, or visual loss. Involuntary movements are not generally regarded to be TIA or RIND. Involuntary movements such as hemiballism, however, can occur as a symptom of TIA or RIND, which should be recognized and differentiated from conditions like partial seizures. Moreover, they may be an indicator of severe carotid stenotic or occlusive diseases, and patients may be at high risk of ischemic events. Early diagnosis and timely treatment are required to prevent ischemic events.
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PMID:[Case of reversible ischemic neurological deficit presented as hemiballism]. 1908 46


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