Atypical timing and presentation of periventricular haemorrhagic infarction in preterm infants: The role of thrombophilia

Developmental Medicine and Child Neurology

Volumn 54, Issue 2, 2012, Pages 140-147

  Harteman, Johanna C ^a   Groenendaal, Floris ^a   van Haastert, Ingrid C ^a   Liem, Kian D ^b   Stroink, Hans ^c   Bierings, Marc B ^a   Huisman, Albert ^d   de Vries, Linda S ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c CANISIUS WILHELMINA HOSPITAL   (Netherlands)

^d UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); BLOOD CLOTTING FACTOR 5 LEIDEN; COL4A1 PROTEIN; COLLAGEN TYPE 4; HOMOCYSTEINE; INOTROPIC AGENT; LIPOPROTEIN A; PROTHROMBIN; UNCLASSIFIED DRUG;

AMINO ACID BLOOD LEVEL; ARTICLE; BIRTH WEIGHT; BRAIN INFARCTION; CEREBRAL PALSY; COHORT ANALYSIS; ECHOGRAPHY; FEMALE; GENE MUTATION; GESTATIONAL AGE; HUMAN; INFANT; LIPOPROTEIN BLOOD LEVEL; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NEUROLOGICAL COMPLICATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PERINATAL PERIOD; PERIVENTRICULAR HEMORRHAGIC INFARCTION; PREMATURITY; PRIORITY JOURNAL; RESPIRATORY DISTRESS SYNDROME; RETROSPECTIVE STUDY; SINGLE NUCLEOTIDE POLYMORPHISM; THROMBOPHILIA;

CEREBRAL VENTRICLES; COHORT STUDIES; COLLAGEN TYPE IV; FACTOR V; FEMALE; HUMANS; INFANT; LEUKOENCEPHALITIS, ACUTE HEMORRHAGIC; LIPOPROTEINS; MAGNETIC RESONANCE IMAGING; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); NEUROLOGIC EXAMINATION; POLYMORPHISM, GENETIC; PREMATURE BIRTH; PROTHROMBIN; RETROSPECTIVE STUDIES; RISK FACTORS; SEVERITY OF ILLNESS INDEX; THROMBOPHILIA; TIME FACTORS; ULTRASONOGRAPHY, DOPPLER;

EID: 84855568932     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/j.1469-8749.2011.04135.x     Document Type: Article

References (35)

1. Bass WT, Jones MA, White LE, Montgomery TR, Aiello F III, Karlowicz MG. Ultrasonographic differential diagnosis and neurodevelopmental outcome of cerebral white matter lesions in premature infants. J Perinatol 1999; 19: 330-6.
2. Hamrick SE, Miller SP, Leonard C, et al. Trends in severe brain injury and neurodevelopmental outcome in premature newborn infants: the role of cystic periventricular leukomalacia. J Pediatr 2004; 145: 593-9.
3. van Haastert IC, Groenendaal F, Uiterwaal CS, et al. Decreasing incidence and severity of cerebral palsy in prematurely born children. J Pediatr 2011; 159: 86-91.
4. de Vries LS, Roelants-van Rijn AM, Rademaker KJ, Van HI, Beek FJ, Groenendaal F. Unilateral parenchymal haemorrhagic infarction in the preterm infant. Eur J Paediatr Neurol 2001; 5: 139-49.
5. Inder TE, Volpe JJ. Mechanisms of perinatal brain injury. Semin Neonatol 2000; 5: 3-16.
6. Bassan H, Feldman HA, Limperopoulos C, et al. Periventricular hemorrhagic infarction: risk factors and neonatal outcome. Pediatr Neurol 2006; 35: 85-92.
7. Bass WT, Schultz SJ, Burke BL, White LE, Khan JH, Karlowicz MG. Indices of hemodynamic and respiratory functions in premature infants at risk for the development of cerebral white matter injury. J Perinatol 2002; 22: 64-71.
8. Osborn DA, Evans N, Kluckow M. Hemodynamic and antecedent risk factors of early and late periventricular/intraventricular hemorrhage in premature infants. Pediatrics 2003; 112: 33-9.
9. Perlman JM, Rollins N, Burns D, Risser R. Relationship between periventricular intraparenchymal echodensities and germinal matrix-intraventricular hemorrhage in the very low birth weight neonate. Pediatrics 1993; 91: 474-80.
10. 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.
11. Dahlback B. Advances in understanding pathogenic mechanisms of thrombophilic disorders. Blood 2008; 112: 19-27.
12. Frosst P, Blom HJ, Milos R, et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet 1995; 10: 111-3.
13. Kenet G, Lutkhoff LK, Albisetti M, et al. Impact of thrombophilia on risk of arterial ischemic stroke or cerebral sinovenous thrombosis in neonates and children: a systematic review and meta-analysis of observational studies. Circulation 2010; 121: 1838-47.
14. Komlósi K, Havasi V, Bene J, et al. Increased prevalence of factor V Leiden mutation in premature but not in full-term infants with grade I intracranial haemorrhage. Biol Neonate 2005; 87: 56-9.
15. Gopel W, Gortner L, Kohlmann T, Schultz C, Moller J. Low prevalence of large intraventricular haemorrhage in very low birthweight infants carrying the factor V Leiden or prothrombin G20210A mutation. Acta Paediatr 2001; 90: 1021-4.
16. Petäjä J, Hiltunen L, Fellman V. Increased risk of intraventricular hemorrhage in preterm infants with thrombophilia. Pediatr Res 2001; 49: 643-6.
17. de Vries LS, Koopman C, Groenendaal F, et al. COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage. Ann Neurol 2009; 65: 12-8.
18. Gould DB, Phalan FC, Breedveld GJ, et al. Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. Science 2005; 308: 1167-71.
19. de Vries LS, Groenendaal F, van Haastert IC, Eken P, Rademaker KJ, Meiners LC. Asymmetrical myelination of the posterior limb of the internal capsule in infants with periventricular haemorrhagic infarction: an early predictor of hemiplegia. Neuropediatrics 1999; 30: 314-9.
20. Rosenbaum P, Paneth N, Leviton A, et al. A report: the definition and classification of cerebral palsy April 2006. Dev Med Child Neurol Suppl 2007; 109: 8-14.
21. Eliasson AC, Krumlinde-Sundholm L, Rösblad B, et al. The Manual Ability Classification System (MACS) for children with cerebral palsy: scale development and evidence of validity and reliability. Dev Med Child Neurol 2006; 48: 549-54.
22. Hartel C, Konig I, Koster S, et al. Genetic polymorphisms of hemostasis genes and primary outcome of very low birth weight infants. Pediatrics 2006; 118: 683-9.
23. Simchen MJ, Goldstein G, Lubetsky A, Strauss T, Schiff E, Kenet G. Factor v Leiden and antiphospholipid antibodies in either mothers or infants increase the risk for perinatal arterial ischemic stroke. Stroke 2009; 40: 65-70.
24. Mercuri E, Cowan F, Gupte G, et al. Prothrombotic disorders and abnormal neurodevelopmental outcome in infants with neonatal cerebral infarction. Pediatrics 2001; 107: 1400-4.
25. Fong CY, Mumford AD, Likeman MJ, Jardine PE. Cerebral palsy in siblings caused by compound heterozygous mutations in the gene encoding protein C. Dev Med Child Neurol 2010; 52: 489-93.
26. O'Callaghan ME, MacLennan AH, Haan EA, Dekker G. The genomic basis of cerebral palsy: a HuGE systematic literature review. Hum Genet 2009; 126: 149-72.
27. Ramenghi LA, Gill BJ, Tanner SF, Martinez D, Arthur R, Levene MI. Cerebral venous thrombosis, intraventricular haemorrhage and white matter lesions in a preterm newborn with factor V (Leiden) mutation. Neuropediatrics 2002; 33: 97-9.
28. de Bree A, Verschuren WM, Bjorke-Monsen AL, et al. Effect of the methylenetetrahydrofolate reductase 677C-->T mutation on the relations among folate intake and plasma folate and homocysteine concentrations in a general population sample. Am J Clin Nutr 2003; 77: 687-93.
29. Gunther G, Junker R, Strater R, et al. Symptomatic ischemic stroke in full-term neonate: role of acquired and genetic prothrombotic risk factors. Stroke 2000; 31: 2437-41.
30. Saracco P, Parodi E, Fabris C, Cecinati V, Molinari AC, Giordano P. Management and investigation of neonatal thromboembolic events: genetic and acquired risk factors. Thromb Res 2009; 123: 805-9.
31. Nowak-Göttl U, Debus O, Findeisen M, et al. Lipoprotein (a): its role in childhood thromboembolism. Pediatrics 1997; 99: E11.
32. Koster T, Rosendaal FR, de Ronde H, Briët E, Vandenbroucke JP, Bertina RM. Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden Thrombophilia Study. Lancet 1993; 342: 1503-6.
33. Bilguvar K, DiLuna ML, Bizzarro MJ, et al. COL4A1 mutation in preterm intraventricular hemorrhage. J Pediatr 2009; 155: 743-5.
34. Kersbergen KJ, Groenendaal F, Benders MJ, et al. The spectrum of associated brain lesions in cerebral sinovenous thrombosis: relation to gestational age and outcome. Arch Dis Child Fetal Neonatal Ed 2011 Feb 13.
35. Saposnik G, Barinagarrementeria F, Brown RD, et al. Diagnosis and management of cerebral venous thrombosis: a statement for healthcare professionals from the American Heart Association/American Stroke Association. Stroke 2011; 42: 1158-92.