Recurrent postpartum cerebral sinus vein thrombosis as a presentation of cystathionine-β-synthase deficiency

Thrombosis and Haemostasis

Volumn 103, Issue 4, 2010, Pages 871-873

  Novy, Jan ^a   Ballhausen, Diana ^a   Bonafé, Luisa ^a   Cairoli, Anne ^a   Angelillo Scherrer, Anne ^a   Bachmann, Claude ^a   Michel, Patrik ^a  

^a LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

ACENOCOUMAROL; ALTEPLASE; FOLIC ACID; GADOLINIUM; HOMOCYSTEINE; LOW MOLECULAR WEIGHT HEPARIN; PYRIDOXINE;

ADULT; CASE REPORT; CEREBRAL SINUS THROMBOSIS; CESAREAN SECTION; CLINICAL EXAMINATION; COMPUTER ASSISTED TOMOGRAPHY; FEMALE; GENETIC ANALYSIS; HOMOCYSTINURIA; HUMAN; LETTER; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL;

ADULT; ANTICOAGULANTS; ANTICONVULSANTS; EPILEPSY; FEMALE; FOLIC ACID; HOMOCYSTINURIA; HUMANS; HYPERHOMOCYSTEINEMIA; MAGNETIC RESONANCE IMAGING; POSTPARTUM PERIOD; PREGNANCY; PREGNANCY COMPLICATIONS, CARDIOVASCULAR; PYRIDOXINE; RECURRENCE; SINUS THROMBOSIS, INTRACRANIAL; THROMBOLYTIC THERAPY; TREATMENT OUTCOME; VITAMIN B COMPLEX; VITAMIN K;

EID: 77952027261     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH09-10-0737     Document Type: Letter

References (22)

1. Stam J. Thrombosis of the Cerebral Veins and Sinuses. N Engl J Med 2005; 352: 1791-1798.
2. Mehraein S, Ortwein H, Busch M, et al. Risk of recurrence of cerebral venous and sinus thrombosis during subsequent pregnancy and puerperium. J Neurol Neurosurg Psychiatry 2003; 74: 814-816. (Pubitemid 36628304)
3. Martinelli I, Battaglioli T, Pedotti P, et al. Hyperhomocysteinemia in cerebral vein thrombosis. Blood 2003; 102: 1363-1366.
4. Gaustadnes M, Rudiger N, Rasmussen K, et al. Intermediate and severe hyperhomocysteinemia with thrombosis: a study of genetic determinants. Thromb Haemost 2000; 83: 554-558. (Pubitemid 30201130)
5. Kluijtmans LA, Boers GH, Kraus JP, et al. The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment. Am J Hum Genet 1999; 65: 59-67.
6. Cohen Aubart F, Sedel F, Papo T. Cystathionine betasynthase and MTHFR deficiencies in adults. Rev Neurol (Paris) 2007; 163: 904-910. (Pubitemid 350125302)
7. Kujovich JL. Hormones and pregnancy: thromboembolic risks for women. Br J Haematol 2004; 126: 443-454. (Pubitemid 39093087)
8. Bousser MG, Ferro JM. Cerebral venous thrombosis: an update. Lancet Neurol 2007; 6: 162-170.
9. Lanska DJ, Kryscio RJ. Risk Factors for Peripartum and Postpartum Stroke and Intracranial Venous Thrombosis. Stroke 2000; 31: 1274-1282. (Pubitemid 30351245)
10. Pierre G, Gissen P, Chakrapani A, et al. Successful treatment of pyridoxine-unresponsive homocystinuria with betaine in pregnancy. J Inherit Metab Dis 2006; 29: 688-689. (Pubitemid 44390432)
11. Buoni S, Molinelli M, Mariottini A, et al. Homocystinuria with transverse sinus thrombosis. J Child Neurol 2001; 16: 688-690.
12. Cochran FB, Packman S. Homocystinuria presenting as sagittal sinus thrombosis. Eur Neurol 1992; 32: 1-3.
13. Vorstman E, Keeling D, Leonard J, et al. Sagittal sinus thrombosis in a teenager: homocystinuria associated with reversible antithrombin deficiency. Dev Med Child Neurol 2002; 44: 498. (Pubitemid 34808760)
14. Cochran FB, Sweetman L, Schmidt K, et al. Pyridoxine-unresponsive homocystinuria with an unusual clinical course. Am J Med Genet 1990; 35: 519-522. (Pubitemid 20109013)
15. Cattaneo M. Hyperhomocysteinemia and venous thromboembolism. Semin Thromb Hemost 2006; 32: 716-723.
16. Mudd SH, Skovby F, Levy HL, et al. The natural history of homocystinuria due to cystathionine betasynthase deficiency. Am J Hum Genet 1985; 37: 1-31. (Pubitemid 15138674)
17. Quere I, Gris JC, Dauzat M. Homocysteine and venous thrombosis. Semin Vasc Med 2005; 5: 183-189.
18. Kelly PJ, Furie KL, Kistler JP, et al. Stroke in young patients with hyperhomocysteinemia due to cystathionine beta-synthase deficiency. Neurology 2003; 60: 275-279.
19. Clayton PT. B6-responsive disorders: a model of vitamin dependency. J Inherit Metab Dis 2006; 29: 317-326.
20. Gaustadnes M, Rudiger N, Rasmussen K, et al. Familial thrombophilia associated with homozygosity for the cystathionine beta-synthase 833T - >C mutation. Arterioscler Thromb Vasc Biol 2000; 20: 1392-1395. (Pubitemid 30262944)
21. Yap S, Boers GH, Wilcken B, et al. Vascular outcome in patients with homocystinuria due to cystathionine beta-synthase deficiency treated chronically: a multicenter observational study. Arterioscler Thromb Vasc Biol 2001; 21: 2080-2085. (Pubitemid 34219765)
22. Ueland PM, Holm PI, Hustad S. Betaine: a key modulator of one-carbon metabolism and homocysteine status. Clin Chem Lab Med 2005; 43: 1069-1075. (Pubitemid 41581963)