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)

Children with sickle disease are at high risk for ischemic stroke and transient ischemic attacks, usually secondary to intracranial arteriopathy involving the terminal internal carotid and proximal middle cerebral and anterior cerebral arteries, which may be diagnosed using transcranial Doppler ultrasound or magnetic resonance angiography (MRA). Other central nervous system (CNS) complications include seizures and coma, which may be secondary to ischemic stroke, sinovenous thrombosis, reversible posterior leukoencephalopathy, or acute demyelination. The immediate priority after an acute CNS event is to improve cerebral oxygenation with oxygen supplementation to maintain peripheral saturation measured using pulse oximetry between 96% and 99%, and a simple transfusion of packed cells within an hour of presentation if the patient's hemoglobin is less than 10 g/dL. The patient then should have erythrocytapheresis or manual exchange to reduce the hemoglobin S percentage to below 30%. Computed tomography to exclude hemorrhage is mandatory and MR T2-weighted imaging with MRA, fat-saturated imaging of the neck (dissection), MR venography (sinovenous thrombosis), and diffusion-weighted imaging usually distinguishes between arterial ischemic stroke and the differential diagnoses. Comatose patients with widespread focal or global cerebral edema may have good functional outcome after surgical decompression. Anticoagulation may be indicated for dissection or sinovenous thrombosis and steroids for demyelination. Blood pressure should be reduced slowly if raised in patients with reversible posterior leukoencephalopathy. Seizures should be treated aggressively and electroencephalogram monitoring should be done to exclude subclinical seizures if the patient is unconscious. Hemorrhagic stroke may require craniectomy and drainage and/or management of vasospasm. Interventional neuroradiology with coils is an alternative to surgical clipping for aneurysms. For secondary prevention, regular blood transfusion to hemoglobin S of less than 30% reduces the risk of recurrent stroke from approximately 67% to approximately 10%. Hydroxyurea and phlebotomy may be used in patients who are alloimmunized. Moyamoya syndrome is a risk factor for recurrence despite prophylactic blood transfusion. Revascularization may prevent additional stroke. Bone marrow transplantation may be offered to patients with human leukocyte antigen-compatible siblings. Blood transfusion prevents stroke in patients with velocities greater than 200 cm per second on TCD; a phase III trial studying the prevention of the progression of silent infarction is being done. Emerging primary prophylaxis regimens being tested include citrulline and arginine, aspirin, and overnight oxygen supplementation. Physicians caring for children with sickle cell disease also should ensure adequate nutrition, including five servings of fruit and vegetables a day. The role of vitamin supplementation is controversial, particularly when patients must take daily penicillin prophylaxis.
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PMID:Stroke in Children with Sickle Cell Disease. 1527 58

3-Hydroxy-3-methylglutaryl-CoA lyase deficiency is a disorder of leucine metabolism that usually presents with recurrent episodes of life-threatening hypoglycemia during early childhood. We report on a 36-year-old woman with seizures, recurrent metabolic disturbances, and severe leukoencephalopathy. The diagnosis was made by analysis of amino acids in urine and serum and was confirmed by demonstration of the deficient enzyme in cultured skin fibroblasts. The patient improved clinically on oral L-carnitine substitution. This treatable condition can remain unrecognized in adults and should be considered a potential cause of leukoencephalopathy.
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PMID:3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an adult with leukoencephalopathy. 1550 78

A 46-year-old woman with Hodgkin's disease who underwent nonmyeloablative allogeneic stem cell transplantation developed cortical blindness, seizures, and left hemiparesis on day 100 while receiving tacrolimus (FK506) and prednisone for the treatment of graft-versus-host disease (GVHD). Magnetic resonance imaging revealed multiple changes, mainly in the bilateral occipital lobes, suggesting FK506-related leukoencephalopathy. These abnormalities improved after discontinuation of FK506. However, 3 days after the episode, cerebral hemorrhage in the left occipital lobe with perforation to the left subdural space occurred. Although FK506-induced leukoencephalopathy with cerebral hemorrhage is considered the more severe form of such leukoencephalopathy, the patient's neurological symptoms almost completely resolved and radiographic findings improved after discontinuation of FK506, tapering of methylprednisolone, and initiation of mycophenolate mofetil. FK506-related leukoencephalopathy is a rare complication after allogeneic stem cell transplantation. Although the symptoms usually subside after discontinuation of FK506, therapeutic intervention in many cases may result in severe complications, including GVHD and vascular disease. We consider it important to use immunosuppressive agents without vascular endothelial toxicity for preventing the development of fatal GVHD after discontinuation of FK506.
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PMID:Successful treatment of tacrolimus (FK506)-related leukoencephalopathy with cerebral hemorrhage in a patient who underwent nonmyeloablative stem cell transplantation. 1554 Sep 7

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive disorder with a chronic progressive course. The gene, MLC1, has been localized on chromosome 22qtell and 26 different mutations have been described. We report two siblings of non-consanguineous parents who presented with characteristic features of MLC. They showed macrocephaly from the first months of life. After a short time, motor clumsiness, ataxia, seizures and psychomotor retardation were observed. During childhood, both patients had a coma that lasted several days following a minor head trauma. The eldest sister experienced a permanent deterioration of the clinical picture after the coma. Epilepsy and electroencephalographic alterations were chronic, tending to improve during adulthood. Cerebral biopsy showed normal or minor changes in the cortical grey matter, and in the white matter gliosis, increased extracellular spaces and decreased numbers of fibres with thin myelin sheets. We have followed the patients during 24 years, from the ages of 4 and 8 years to the their present ages of 28 and 32 years. Clinical and neuro-imaging follow-up showed a chronic course with more prominent progression of the white matter abnormalities than of the neurological features. A homozygous mutation of the MLC1 gene was found in both siblings. The eldest patient, 32 years-old, needs a wheel-chair but has a good contact with the family and surrounding people. The youngest, 28-years-old, shows mild ataxia, spasticity and motor clumsiness, but she is able to participate in activities of daily life.
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PMID:Vacuolating megalencephalic leukoencephalopathy: 24 year follow-up of two siblings. 1570 20

Reversible posterior leukoencephalopathy is a syndrome of headache, seizures and visual loss, often associated with an abrupt increase in blood pressure. Prompt diagnosis and therapy with antihypertensives, anticonvulsants, removal of any offending medication and treatment of associated disorders is essential since early treatment might prevent progression to irreversible brain damage. We present six illustrative cases presenting to Christchurch Hospital and review the condition. All were hypertensive, two were receiving immunosuppressant therapy after transplantation and one chemotherapy. Only three made a full recovery. The term reversible posterior leukoencephalopathy is a misnomer as the condition is not always reversible, is not necessarily confined to the posterior regions of the brain and can affect both white and grey matter. Magnetic resonance imaging findings of increased T2 and fluid attenuated inversion recovery signal predominantly involving the posterior regions of the cerebral hemispheres should alert the clinician to the possibility of this diagnosis.
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PMID:Reversible posterior leukoencephalopathy syndrome: a misnomer reviewed. 1570 36

We describe a 72-year-old patient with rapidly progressive dementia and a complex focal seizure. Magnetic resonance (MR) imaging revealed leukoencephalopathy with the involvement of the U-fibers as well as cortical and subcortical microbleeds. Brain biopsy confirmed the diagnosis of cerebral Abeta amyloid angiopathy (CAA). The presented case illustrates the significance of CAA as a cause of rapidly progressive dementia and leukoencephalopathy and points out the importance of T2-weighted MR imaging in the evaluation of dementia.
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PMID:[Sporadic cerebral amyloid angiopathy with ischemic leukoencephalopathy and microbleeds. Cause for a rapidly progressive dementia syndrome]. 1577 60

The purpose of this study was to examine cognitive functioning and neuroimaging in children with leukemia treated with the Pediatric Oncology Group 9605 protocol at the Children's Hospital of Eastern Ontario. Mean age at diagnosis was 4.88 +/- 2.54 years. The mean (n = 24) Wechsler Verbal and Performance IQ fell in the low-average range (87.33 +/- 15.69 and 84.83 +/- 19.11, respectively). Mean (n = 20) Verbal and Visual Memory Indexes of 82.95 +/- 15.46 and 88.30+/- 10.80, respectively, were obtained. The proportion of scores on measures of intelligence and memory falling > 1 SD below the normative mean was substantially higher than expected. Paired t-test suggested that Wechsler Verbal IQ and memory remained stable, whereas Wechsler Performance IQ declined significantly. The results of growth curve analyses replicated these findings and suggested a significant adverse effect of cumulative dosage of intrathecal methotrexate on estimated Wechsler Performance IQ. Although only two children experienced seizures, 78% of the group showed leukoencephalopathy on at least one magnetic resonance image. Reliance on seizures as a predictor of leukoencephalopathy might underestimate the incidence of neurotoxicity.
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PMID:Cognitive changes in children treated for acute lymphoblastic leukemia with chemotherapy only according to the Pediatric Oncology Group 9605 protocol. 1579 79

Reversible leukoencephalopathy syndrome (RLS) is a rare brain disorder, characterized by diffuse attenuation of cerebral white matter, which has been most commonly observed in transplant patients receiving calcineurin inhibitors or in patients with severe hypertension. We report an episode of RLS in a 22-year-old male patient on chronic hemodialysis with well-controlled moderate hypertension who presented with de novo headache and generalized seizures. Cranial magnetic resonance image (MRI) revealed multiple areas of increased signal intensity in the white matter on T2-weighed images which resolved spontaneously at subsequent MRIs. White blood cell count showed leucopenia with normal CD4 count at flow cytometry. A viral etiology could not be demonstrated. Reversible leukoencephaolopathy syndrome symptoms remitted within 72 h but leukopenia persisted over 10 months. The patient received a kidney transplant 15 months after RLS onset and has received cyclosporine since the second post-transplant day. No recurrence of RLS symptoms has been observed. The etiology of the MRI changes in the present case seemed not to be either vasogenic or cytotoxic.
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PMID:Reversible leukoencephalopathy syndrome associated to leukopenia in a chronic hemodialysis patient. 1582 10

L-2-hydroxyglutaric aciduria (L2HGA) is a chronic slowly progressive neurodegenerative disease characterized mainly by psychomotor developmental delay and cerebellar dysfunction. We report the clinical, biochemical, and neuroimaging features of 29 patients from 22 families. The mean age at the time of diagnosis was 13.4 years (2.5-32 years). The mean follow-up period of patients was four years (1.5-16 years). The main clinical findings were mental retardation and cerebellar involvement with ataxic gait and intentional tremor. Additional findings were mental retardation, macrocephaly and seizures. Diagnosis was confirmed by increased urinary excretion of L-2-hydroxyglutaric acid in all patients and highly specific magnetic resonance imaging (MRI) pattern showing subcortical leukoencephalopathy with bilateral high signal intensity in dentate nuclei and putamens. During the follow-up period, all patients had a static encephalopathy course. The underlying metabolic defect and the possible role of L-2-hydroxyglutaric acid are studied in a subgroup of these families and under evaluation for publication.
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PMID:L-2-hydroxyglutaric aciduria: a report of 29 patients. 1588 21

Methotrexate (MTX) is an indispensable antimetabolite for the treatment of oncological and immunological disorders in all age groups. Chronic leukoencephalopathy is a well know side effect of MTX, especially in conjunction with intrathecal administration and whole brain radio therapy. However, acute neurotoxicity with confusion, disorientation, seizures and focal deficits has also been reported. Because acute neurological symptoms in patients under chemotherapy for neoplastic disorders may have many reasons, MR-imaging is usually necessary to identify the underlying pathology. Apart from conventional sequences, diffusion-weighted imaging (DW-MRI) is frequently performed. We report on clinical and imaging findings of reversibly restricted diffusion in a patient with transient encephalopathy after intrathecal administration of MTX for recurrent acute lymphatic leukaemia.
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PMID:Transient encephalopathy after intrathekal methotrexate chemotherapy: diffusion-weighted MRI. 1593 17


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