Stroke in an infant heterozygous carrier of both Factor V G1691A and the G20210A prothrombin mutation

Ioannis Germanakis; Eftichia Stiakaki; Caterina Sfyridaki; Spyros Katampekios; Vasiliki Danilatou; Maria Kalmanti

doi:10.1055/s-0037-1613624

Thrombosis and Haemostasis, Table of Contents

Thromb Haemost 2003; 90(04): 760-763
DOI: 10.1055/s-0037-1613624

Letters to the Editor

Schattauer GmbH

Stroke in an infant heterozygous carrier of both Factor V G1691A and the G20210A prothrombin mutation

Authors

Ioannis Germanakis
Eftichia Stiakaki
Caterina Sfyridaki
Spyros Katampekios
Vasiliki Danilatou
Maria Kalmanti

Abstract

Full Text

References

References
1 Broderick J, Talbot GT, Prenger E. et al. Stroke in children within a major metropolitan area: the surprising importance of intracerebral hemorrhage. J Child Neurol 1993; 8: 250-5.
2 Schoenberg BS, Mellinger JF, Schoenberg DG. Cerebrovascular disease in infants and children: a study of incidence, clinical features, and survival. Neurology 1978; 28: 763-8.
3 Dahlback B, Carlsson M, Svensson PJ. Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein C. Proc Natl Acad Sci USA 1993; 90: 1004-8.
4 Bertina RM, Koeleman BP, Koster T. et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994; 369: 64-7.
5 Rosendaal FR. Risk factors for venous thrombotic disease. Thromb Haemost 1999; 82: 610-9.
6 Rees DC, Cox M, Clegg JB. World distribution of factor V Leiden. Lancet 1995; 346: 1133-4.
7 Antoniadi T, Hatzis T, Kroupis C. et al. Prevalence of factor V Leiden, prothrombin G20210A, and MTHFR C677T mutations in a Greek population of blood donors. Am J Hematol 1999; 61: 265-7.
8 Ioannou HV, Mitsis M, Eleftheriou A. et al. The prevalence of factor V Leiden as a risk factor for venous thromboembolism in the population of North-Western Greece. Int Angiol 2000; 19: 314-8.
9 Angelopoulou K, Nicolaides A, Constantinou Deltas C. Prevalence of genetic mutations that predispose to thrombophilia in a Greek Cypriot population. Clin Appl Thromb Hemost 2000; 6: 104-7.
10 Poort SR, Rosendaal FR, Reitsma PH. et al. A common genetic variation in the 3untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood 1996; 88: 3698-703.
11 Sanchez J, Roman J, de la Torre MJ. et al. Low prevalence of the factor V Leiden among patients with ischemic stroke. Haemostasis 1997; 27: 9-15.
12 Simioni P, de Ronde H, Prandoni P. et al. Ischemic stroke in young patients with activated protein C resistance. A report of three cases belonging to three different kindreds. Stroke 1995; 26: 885-90.
13 Ganesan V, Kelsey H, Cookson J. et al. Activated protein C resistance in childhood stroke. Lancet 1996; 347: 260
14 Nowak-Göttl U, Koch HG, Aschka I. et al. Resistance to activated protein C (APCR) in children with venous or arterial thromboembolism. Br J Haematol 1996; 92: 992-8.
15 Halbmayer WM, Haushofer A, Angerer V. et al. APC resistance and Factor V G1691A (FV:Q506) mutation in patients with ischemic cerebral events. Vienna Thrombophilia in Stroke Study Group (VITISS). Blood Coagul Fibrinolysis 1997; 8: 361-4.
16 Zenz W, Bodo Z, Plotho J. et al. Factor V Leiden and prothrombin gene G20210A variant in children with ischemic stroke. Thromb Haemost 1998; 80: 763-6.
17 Akar N, Akar E, Yilmaz E. et al. Plasminogen activator inhibitor-1 4G/5G polymorphism in Turkish children with cerebral infarct and effect on factor V 1691 A mutation. J Child Neurol 2001; 16: 294-5.
18 Kenet G, Sadetzki S, Murad H. et al. Factor V Leiden and antiphospholipid antibodies are significant risk factors for ischemic stroke in children. Stroke 2000; 31: 1283-8.
19 Steiner M, Hodes MZ, Shreve M. et al. Postoperative stroke in a child with cerebral palsy heterozygous for factor V Leiden. J Pediatr Hematol Oncol 2000; 22: 262-4.
20 Nowak-Göttl U, Strater R, Heinecke A. et al. Lipoprotein (a) and genetic polymorphisms of clotting factor V, prothrombin, and methylenetetrahydrofolate reductase are risk factors of spontaneous ischemic stroke in childhood. Blood 1999; 94: 3678-82.
21 Riikonen RS, Vahtera EM, Kekomaki RM. Physiological anticoagulants and activated protein C resistance in childhood stroke. Acta Paediatr 1996; 85: 242-4.
22 Heller C, Becker S, Scharrer I. et al. Prothrombotic risk factors in childhood stroke and venous thrombosis. Eur J Pediatr 1999; 158: S117-21.
23 Varelas PN, Sleight BJ, Rinder HM. et al. Stroke in a neonate heterozygous for factor V Leiden. Pediatr Neurol 1998; 18: 262-4.
24 Debus O, Koch HG, Kuriemann G. et al. Factor V Leiden and genetic defects of thrombophilia in childhood porencephaly. Arch Dis Child Fetal Neonatal Ed 1998; 78: F121-4.
25 Margaglione M, D'Andrea G, Giuliani N. et al. Inherited prothrombotic conditions and premature ischemic stroke: sex difference in the association with Factor V Leiden. ArteriosclerThromb Vasc Biol 1999; 19: 1751-6.
26 McColl MD, Chalmers EA, Thomas A. et al. Factor V Leiden, prothrombin G20210AG ->A and the MTHFR C677T mutations in childhood stroke. Thromb Haemost 1999; 81: 690-4.
27 deVeber G, Monagle P, Chan A. et al. Prothrombotic disorders in infants and children with cerebral thromboembolism. Arch Neurol 1998; 55: 1539-43.
28 De Stefano V, Chiusolo P, Paciaroni K. et al. Prothrombin G20210A mutant genotype is a risk factor for cerebrovascular ischemic disease in young patients. Blood 1998; 91: 3562-5.
29 Ehrenforth S, Junker R, Koch HG. et al. Multicentre evaluation of combined prothrombotic defects associated with thrombophilia in childhood. Childhood Thrombophilia Study Group. Eur J Pediatr 1999; 158: S97-104.
30 De Stefano V, Martinelli I, Mannucci PM. et al. The risk of recurrent deep venous thrombosis among heterozygous carriers of both factor V Leiden and the G20210A prothrombin mutation. N Engl J Med 1999; 341: 801-6.
31 Schobess R, Junker R, Auberger K. et al. Factor V G1691A and prothrombin G20210A in childhood spontaneous venous thrombosis—evidence of an age-dependent thrombotic onset in carriers of factor V G1691A and prothrombin G20210A mutation. Eur J Pediatr 1999; 158: S105-8.
32 Monagle P, Michelson AD, Bovill E. et al. Antithrombotic therapy in children. Chest 2001; 119: S344-370.
33 Miller V.. Neonatal cerebral infarction. Semin Pediatr Neurol 2000; 7: 278-88.
34 Strater R, Kurnik K, Heller C. et al. Aspirin versus low-dose low-molecular-weight heparin: antithrombotic therapy in pediatric ischemic stroke patients: a prospective follow-up study. Stroke 2001; 32: 2554-8.