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BACKGROUND: Varicella is a benign infectious disease that is rarely complicated by thrombosis. Factor V Leiden (FVL) mutation is presently recognized as the most common inherited cause of thrombosis. From a case report the link between varicella associated thrombosis and FVL is discussed. CASE REPORT: An eight year-old boy was admitted on 15th day of a varicella infection for difficulty to walk and painful legs. Doppler ultra sound of the lower limbs venous system showed thrombosis of the left iliac vein and femoral veins. Thrombophilia work-up revealed a FVL heterozygotic status for the patient. Biological screening for molecular abnormalities associated with thrombophilia led to the detection of a heterozygous inherited FVL mutation in the patient. Response to heparine followed by oral anticoagulant treatment was good. CONCLUSION: Thrombosis associated with varicella in child is a rare event. We recommend to realize a thrombophilia screening in such patients. We also support varicella vaccination of children identified as having constitutional prothrombotic disorders like FVL mutation. 相似文献
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Pérez Martínez A Cerezo Bueno MJ García Peñas JJ Gutiérrez-Solana L Ruiz-Falcó ML 《Anales de pediatría (Barcelona, Spain : 2003)》2005,63(2):172-174
Benign idiopathic intracranial hypertension (BIH) in association with prothrombotic conditions has been reported with increasing frequency in the medical literature. Recently, activated protein C resistance (APCR) has been identified as a factor in some cases. Because of its high prevalence, factor V Leiden mutation (FVL) is the most frequent coagulation abnormality associated with cerebral venous thrombosis. Reduced craniospinal fluid reabsorption due to damaged arachnoid villi secondary to microthrombus formation has been proposed as an explanation for the physiopathology of BIH and FVL. We describe two patients with a diagnosis of BIH, in whom the only risk factor was heterozygosity for FVL mutation. 相似文献
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Dunn SP Tsai A Griffin G Toth S Casas-Melley AT Falkenstein KP Marando CA Krueger LJ 《The Journal of pediatrics》2005,146(3):418-422
Liver transplantation (LT) was achieved for factor V Leiden-induced thrombophilia in a neonate with hepatic veno-occlusive disease. Initial LT was performed with a liver segment removed from a child with primary oxalosis. Four months later, a second, definitive LT was performed. The child remains well without recurrent thrombosis. 相似文献
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The prevalence of the Leiden mutation was tested in 50 mothers of premature infants and in 56 mothers of intrauterine-growth-retarded neonates. The prevalence of the Leiden mutation was 7.2% in the mothers of growth-retarded neonates and 18% in the group of mothers of premature infants, the latter being significantly higher than the 6.3% prevalence of this mutation in healthy Hungarian subjects (p < 0.01). In spite of the relatively small number of mothers examined, the unexpected finding may call attention to a hitherto unknown relationship. 相似文献
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Children with venous thromboses have greater than 50% likelihood of carrying a genetic thrombophilic defect, and two-thirds of such defects will be a mutation in the factor V gene referred to as Factor V Leiden. Poorly controlled type 1 diabetes mellitus (T1DM) increases the risk for thrombosis. We report a massive arterial thrombosis resulting in unilateral below-the-knee amputation in a 12-yr-old white girl with a heterozygous Factor V Leiden mutation and a 2-yr history of poorly controlled T1DM. This report emphasizes the need to test for thrombophilic defects in children with thrombosis or with a family history of thrombosis. Good metabolic control is especially important in children with T1DM and known thrombophilic defects. 相似文献
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Ariel Koren Carina Levin Yaser Hujirat Ronit El-Hasid Miriam Kutai Naomi Lanir 《Pediatric hematology and oncology》2013,30(3):219-227
Thrombophilic risk factors are associated with thromboembolism in children but data in infants and neonates are not well established. The authors report a series of 9 infants with thrombotic events and the associated genetic risk factors. The clinical and laboratory records of newborns and infants with a history of thrombotic events were summarized, while patients with underlying diseases were excluded. The frequency of the genetic mutations was compared to a control group of 80 children from the same ethnic origin. In 6 patients a cerebrovascular accident was diagnosed and in 3 newborns, CT scan could diagnose antenatal brain infarct. In another 2 patients deep-vein thrombosis associated with femoral catheterization was diagnosed. Seven infants were factor V Leiden heterozygous and another one homozygous. Methylenetetrahydrofolate reductase genotype was found in 5 infants. Five cases were found to be double heterozygous for those two mutations, and another one double heterozygous for FVL and factor II. The results of this small series of patients indicate that cerebrovascular accident is the major thrombotic event in infants and the combination of more than one prothrombotic factors may be the cause of those events. The correct management, including anticoagulant therapy, is still under discussion and waiting for larger series and long-term follow-up results until accurate recommendations can be made. 相似文献
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O. Debus H. G. Koch G. Kurlemann R. Strater H. Vielhaber P. Weber U. Nowak-Gottl 《Archives of disease in childhood. Fetal and neonatal edition》1998,78(2):F121-F124
AIMS—To determine to what extent the
Arg506 to Gln point mutation in the factor V gene and
further genetic factors of thrombophilia affect the risk of
porencephaly in neonates and infants.
METHODS—The Arg506 to Gln mutation, factor V, protein C, protein S, antithrombin, antiphospholipid antibodies and lipoprotein (a) (Lp(a)) were retrospectively measured in neonates and children with porencephaly (n=24).
RESULTS—Genetic risk factors for thrombophilia were diagnosed in 16 of these 24 patients: heterozygous factor V Leiden (n=3); protein C deficiency type I (n=6); increased Lp (a) (n=3); and protein S type I deficiency (n=1). Three of the 16 infants had two genetic risk factors of thrombophilia: factor V Leiden mutation combined with increased familial Lp (a) was found in two, and factor V Leiden mutation with protein S deficiency type I in one.
CONCLUSIONS—The findings indicate that deficiencies in the protein C anticoagulant pathway have an important role in the aetiology of congenital porencephaly.
相似文献
METHODS—The Arg506 to Gln mutation, factor V, protein C, protein S, antithrombin, antiphospholipid antibodies and lipoprotein (a) (Lp(a)) were retrospectively measured in neonates and children with porencephaly (n=24).
RESULTS—Genetic risk factors for thrombophilia were diagnosed in 16 of these 24 patients: heterozygous factor V Leiden (n=3); protein C deficiency type I (n=6); increased Lp (a) (n=3); and protein S type I deficiency (n=1). Three of the 16 infants had two genetic risk factors of thrombophilia: factor V Leiden mutation combined with increased familial Lp (a) was found in two, and factor V Leiden mutation with protein S deficiency type I in one.
CONCLUSIONS—The findings indicate that deficiencies in the protein C anticoagulant pathway have an important role in the aetiology of congenital porencephaly.
相似文献
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Stiakaki E Germanakis I Sfyridaki C Katzilakis N Danilatou V Kalmanti M 《Pediatric blood & cancer》2005,44(4):386-389
BACKGROUND: The prevalence of thrombophilic traits, which might further enhance the risk of thrombotic complications in children treated for cancer, varies significantly among different populations. OBJECTIVE: To evaluate the prevalence of common thrombophilic traits of the East Mediterranean Region, among native Cretan children treated for malignancy. METHODS: Blood samples were consecutively collected from 31 native Cretan children treated for acute lymphoblastic leukaemia (n = 19) or other malignancies (n = 12) over 3 years. A molecular diagnosis based on the presence of Factor V Leiden (FVL), as well as on PT G20210A and MTHFR C677T mutation (in 14 patients) using PCR was applied. Patients who had central venous catheters (n = 29) were treated with an intensified thromboprophylaxis protocol that had been previously established in our institution. RESULTS: The prevalence of the FVL mutation was 19.4% (95% CI = 5-32). The allele frequency is estimated at 11.3% (95% CI: 3.5-19.1) which is higher than that reported for the population of the mainland of Greece. The prevalence of the PT G20210A and MTHFR C677T mutation was 14.3 and 71.4%, respectively (corresponding allele frequencies 7.1 and 50%, respectively). Only one patient developed thrombosis, having although no thrombophilic trait. CONCLUSIONS: Thrombophilic traits were relatively common in this group of native Cretan children treated for malignancy. Thromboprophylaxis should be considered in Cretan children in the presence of known acquired risk factors for thrombosis, but a larger prospective to study is first needed. 相似文献
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We report an infant with meningococcal septicaemia and meningitis who had panophthalmitis at presentation that was unresponsive to standard systemic antibiotic treatment but which responded to topical steroid and mydriatic treatment. The pathogenesis may have been immune mediated. 相似文献
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Emergency management of meningococcal disease. 总被引:8,自引:0,他引:8
A J Pollard J Britto S Nadel C DeMunter P Habibi M Levin 《Archives of disease in childhood》1999,80(3):290-296
Meningococcal disease remains a major cause of mortality in children in the UK. Aggressive early volume resuscitation, meticulous attention to the normalisation of all physiological and laboratory parameters, and prompt referral to specialist paediatric intensive care may lead to a sharp reduction in mortality. Application of the management algorithm described in this article may be helpful to those involved in the early part of management of critically ill patients with meningococcal disease. 相似文献
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Corapçioğlu F Uysal KM Silistreli E Unal N Oren H Açikel U 《The Turkish journal of pediatrics》2005,47(3):279-282
Patients with cancer have an increased risk for thromboembolism, which might be related to several factors including central venous catheters and chemotherapeutics. Congenital prothrombotic risk factors might also contribute to thrombotic events. In this report, we present a catheter-related recurrent intracardiac thrombosis in a boy with non-Hodgkin's lymphoma and factor V Leiden mutation. Screening for factor V Leiden mutation in children with cancer and recurrent thrombotic events is recommended. Periodic echocardiography may be considered for a group of patients if the catheter tip is in the right atrium and therapy includes L-asparaginase and corticosteroids. 相似文献
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Mortality in severe meningococcal disease. 总被引:4,自引:0,他引:4
AIM: To evaluate mortality of critically ill children admitted with meningococcal disease. METHODS: Prospective study of all children admitted to a regional paediatric intensive care unit (PICU) between January 1995 and March 1998 with meningococcal disease. Outcome measures were actual overall mortality, predicted mortality (by PRISM), and standardised mortality ratio. RESULTS: A total of 123 children were admitted with meningococcal disease. There was an overall PICU mortality of 11 children (8.9%). The total mortality predicted by PRISM was 24.9. The standardised mortality ratio (SMR) was 0.44. Results were compared with those from four previously published meningococcal PICU studies (USA, Australia, UK, Netherlands) in which PRISM scores were calculated. The overall PICU mortality and SMR were lower than those in the previously published studies. CONCLUSION: Compared with older studies and calibrating for disease severity, this study found a decrease in the mortality of critically ill children with meningococcal disease. 相似文献
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Aytemiz Gürgey Münever Büyükpamukcu Canan Baskut Bilgehan Yalcin Safiye Ggü 《Pediatric blood & cancer》1997,29(3):224-225
We report a case of hepatocellular carcinoma associated with portal vein thrombosis. Analysis of whole cellular DNA demonstrated heterozygosity for the factor V Leiden mutation. The patient also had marked protein C deficiency. The presence of the mutation associated with protein C deficiency may increase the risk of thrombosis in this patient with hepatocellular carcinoma. Med. Pediatr. Oncol. © 1997 Wiley-Liss, Inc. 相似文献