Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018991 (hemiplegia)
 3,997 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Vaso-occlusive crisis is the most common cause of morbidity in patients with sickle cell anemia (SCA). Central nervous system involvement that leads to hemiplegia is the most frequent neurological complication in those patients. Peripheral deep venous thromboembolism was not reported in SCA patients. Activated protein C resistance is associated with an increased risk of thrombophilia. The authors report an SCA patient with recurrent cerebrovascular accident and deep venous thrombosis. Activated protein C resistance due to factor V Leiden heterozygous and heterozygocity for the methylenetetrahydrofolate reductase were diagnosed and suspected to be the risk factors that contribute to the development of the deep vein thrombosis in this SCA patient.
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PMID:Venous thromboembolism, factor V Leiden, and methylenetetrahydrofolate reductase in a sickle cell anemia patient. 1050 25

The factor V Leiden mutation is the most common hereditary cause of venous thrombosis in our population. In the pediatric population, it has been associated with cerebrovascular thrombosis, cerebral palsy, and prosencephaly in neonates. We present two children with hemiconvulsion, hemiplegia, and epilepsy syndrome in whom the cause is likely attributable to the factor V Leiden mutation. We suggest that patients presenting with hemiconvulsion, hemiplegia, and epilepsy syndrome should be routinely investigated for factor V Leiden, and, if positive, careful consideration should be given to therapeutic and prophylactic anticoagulation as this may improve long-term outcome.
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PMID:Association between factor V Leiden mutation and the hemiconvulsion, hemiplegia, and epilepsy syndrome: report of two cases. 1250 53

The authors report an infant with congenital hemiplegia associated to heterozygosity for factor V Leiden. Prenatal stroke in the left cerebral hemisphere was diagnosed by ultrasonography at the 28th week of pregnancy, and followed up until birth. Although neonatal neurologic examination was normal, a moderate right hemiparesis developed along the 1st months of life. Coagulation studies performed in the neonatal period and at the age of 18 months revealed activated protein C resistance due to factor V Leiden mutation (R506Q). There are some previous reports of stroke associated to this mutation in near or at term neonates, but to our knowledge this is the stroke detected at the most early stage of fetal development.
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PMID:Prenatal stroke in a neonate heterozygous for factor V Leiden mutation. 1612 36

Fifty-seven children with cerebral palsy (CP) and imaging evidence of vascular thrombosis (study group) and 167 children with CP and other imaging finds (control group)were selected. Sixty-one per cent of the study group were male and 53 (93%) had spastic hemiplegia compared with the control group, of whom 55% were male and 54 (32%) had a diagnosis of spastic hemiplegia. Mean age was 5 years 11 months (SD 5y 1mo) for the study group and 7 years 7 months (SD 4y 7mo) for the control group. Blood spots on Guthrie cards or buccal swabs were used to test both groups and their mothers for the factor V Leiden (fVL) mutation, which predisposes carriers to thrombophilia. Mothers were interviewed to gather antenatal, perinatal, demographic, and socio-economic data. The frequency of the fVL mutation in children with evidence of vascular thrombosis and their mothers was not statistically different from the frequency in children with CP with other imaging findings and their mothers. The frequency of the fVL mutation was significantly higher than the expected population frequency of 4% in the study group (10.5%, p=0.012) and in mothers of the control group (7.2%, p=0.036).
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PMID:Factor V Leiden mutation: a contributory factor for cerebral palsy? 1635 89

A 4-year-old boy was admitted with left hemiplegia. Thrombophilia marker examination resulted with factor V Leiden mutation heterozygosity, a deficiency of antithrombin III and a high level of factor VIII. Cranial computed tomography scan revealed an ischemic infarct in the region of right anterior cerebral artery. In the literature, combinations of multiple thrombophilia risk factors that trigger cerebral ischemic stroke in children have been emphasized. To our knowledge, this is the first child with these combinations of thrombophilia risk factors and ischemic stroke to be reported in the literature.
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PMID:Factor V Leiden mutation, deficiency of antithrombin III and elevation of factor VIII in a child with ischemic stroke: a case report. 1664 63

The factor V Leiden mutation is a specific point mutation in the gene coding for factor V. It renders activated factor V resistant to degradation by activated protein C (APC). This hereditary resistance to APC (HRAPC) is a known risk factor for systemic venous thrombosis. We present a case of homozygous HRAPC presenting as cerebral venous thrombosis (CVT). A 24-year-old woman presented with a dense left hemiplegia and papiledema. A computed tomography scan showed a high ritht parieto-occipital infarct with hemorrhagic conversion. Angiography confirmed the diagnosis of extensive CVT. Treatment included heparin and direct intrathrombus thrombolysis initially as a bolus and then as an infusion for 21 hours. Repeat angiography showed partial recanalization. After 9 days, the patient was discharged on warfarin with minimal residual left weakness but persistent papilledema. Homozygous HRAPC appears to be a risk factor for CVT and should be considered in the evaluation of CVT.
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PMID:Homozygous hereditary resistance to activated protein C presenting as cerebral venous thrombosis. 1789 36