Hereditary prothrombin deficiency presenting as intracranial haematoma in infancy

Neuropediatrics

Volumn 30, Issue 6, 1999, Pages 320-324

  Strijks, E ^a   Poort, S R ^b   Renier, W O ^a   Gabreels F J M ^a   Bertina, R M ^b  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Child battering; Intracranial haematoma; Prothrombin deficiency; Prothrombin gene mutation

Indexed keywords

PROTHROMBIN;

ARTICLE; BLOOD CLOTTING; BLOOD CLOTTING DISORDER; BRAIN HEMATOMA; CASE REPORT; CHILD; CHILD ABUSE; DNA DETERMINATION; HOMOZYGOSITY; HUMAN; MALE; POINT MUTATION; PRIORITY JOURNAL; PROTHROMBIN DEFICIENCY; SOCIAL CLASS;

EID: 0033382096     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2007-973512     Document Type: Article

References (30)

1. Akhavan S, Rocha E, Zeinali S, Mannucci PM. Gly319→arg substitution in the dysfunctional prothrombin Segovia. Br J Haemat 1999; 3: 667-669
2. Andrew M, Paes B, Milner R, Johnston M, Mitchell L, Tollefsen DM. Development of the human coagulation system in the healthy premature infant. Blood 1988; 72: 1651-1657
3. Bertina RM, Marel-van der Nieuwkoop W, Loeliger E. Spectrophotometric assays of prothrombin in plasma of patients using oral anticoagulants. Thromb Haemost 1979; 42: 1296-1305
4. Billmire M, Myers P. Serious head injury in infants: Accident or abuse? Pediatrics 1985; 75: 340-342
5. Board PG, Shaw DC. Determination of the amino acid substitution in human prothrombin type 3 (157 glu-to-lys) and the localization of a third thrombin cleavage site. Br J Haemat 1983; 54: 245-254
6. Degen SJF, Davie EW. Nucleotide sequence of the gene for human prothrombin. Biochemistry 1987; 26: 6165-6177
7. Degen S, McDowell S, Sparks L, Scharrer I. Prothrombin Frankfurt: a dysfunctional prothrombin characterized by substitution of Glu-466 by Ala. Thromb Haemost 1995; 73: 203-209
8. Duhaime AC, Gennarelli TA, Thibault LE, Bruce DA, Margulies SS, Wiser R. The shaken baby syndrome. A clinical, pathological, and biomechanical study. J Neurosurg 1987; 66: 409-415
9. Duhaime AC, Cristian C, Moss E, Seidl T. Longterm outcome in infants with the shaken-impact syndrome. Pediatr Neurosurg 1996; 24: 292-298
10. Furihata K. Genetic analysis for hereditary disorders. Rinsho Byori 1995; 10: 1028-1033
11. Girolami A, Scarano L, Saggiorato G, Girolami B, Bertomoro A, Marchiori A. Congenital deficiencies and abnormalities of prothrombin. Blood Coag Fibrinol 1998; 9: 557-569
12. Henriksen RA, Mann KG. Identification of the primary structural defect in the dysthrombin thrombin Quick I: substitution of cysteine forarginine-382. Biochemistry 1988; 27: 9160-9165
13. Henriksen RA, Mann KG. Substitution of valine for glycine-558 in the congenital dysthrombin thrombin Quick II alters primary substrate specificity. Biochemistry 1989; 28: 2078-2082
14. Henriksen RA, Dunham CK, Miller LD, Casey JT, Menke JB, Knupp CL. Prothrombin Greenville, Arg517→Gln, identified in an individual heterozygous for dysprothrombinemia. Blood 1998; 6: 2026-2031
15. Jamas HL, Kim DJ, Zheng DQ, Girolami A. Incomplete activation due to an aminoacid substitution at a factor Xa cleavage site. Blood Coag Fibrinol 1994; 5: 841-844
16. Kasim MS, Cheah I, Shafie HM. Childhood death from physical abuse. Child Abuse Negl 1995; 19: 847-854
17. Menkes JH, Till K. Postnatal trauma and injuries by physical agents. In: Menkes JH (ed.). Textbook of child neurology. London, Philadelphia: Lea and Febiger, 1990: 478-482
18. Miyata T, Morita T, Inomoti T, Kawauchi S, Shirakami A, Iwanaga S. Prothrombin Tokushima, a replacement of arginine-418 by tryptophan that impairs the fibrinogen clotting activity of derived thrombin Tokushima. Biochemistry 1987; 26: 1117-1122
19. Morishita E, Saito M, Kumabashiri I, Asakura H, Matsuda T, Yamaguchi K. Prothrombin Himi: a compound heterozygote for two novel dysfunctional prothrombin molecules (met-337-to-thr and arg-388-to-his). Blood 1992; 80: 2275-2280
20. Poort SR, Michiels JJ, Reitsma PH, Bertina RM. Homozygosity for a novel missense mutation in the prothrombin gene causing a severe bleeding disorder. Thromb Haemost 1994; 72: 819-824
21. Poort SR, Landolfi R, Bertina RM. Compound heterozygosity for two novel missense mutations in the prothrombin gene in a patient with a severe bleeding tendency. Thromb Haemost 1997; 77: 610-615
22. Rabiet MJ, Furie BC, Furie B. Molecular defect of prothrombin Barcelona: substitution of cysteine for arginine at residue 271. J Biol Chem 1986; 261: 15045-15048
23. Roberts HR, Lefkowitz JB. Inherited disorders of prothrombin conversion. In: Colman RW, Hirsch J, Marder VJ, Salzman EW (eds.). Haemostasis and Thrombosis. Basic Principles and Clinical Practice. Philadelphia: JB Lippincott Company, 1994: 200-218
24. Roussey M, Dabadie A, Betremieux P, Lefrançois MC, Journel H, Gandon Y. Des services pas toujours evidents: l'enfant secoué [Not-always apparent abuse: the shaken baby syndrome]. Arch Fr Pediatr 1987; 44: 441-444
25. Spaide RF. Shaken baby syndrome. Ocular and computed tomographic findings. J Clin Neuroophthalmol 1987; 7: 108-111
26. Tuddenham EGD, Cooper DN. Prothrombin. In: Motulsky AG, Bobrow M, Harper PS, Scriver (eds.). The Molecular Genetics of Haemostasis and its Inherited Disorders. Oxford: Oxford University Press 1994: 134-148
27. Viola L, Chiaretti A, Lazzareschi I, Pesaresi M, Rossodivita A, Polidori G. Intracranial haemorrhage in congenital factor 2 deficiency. Pediatr Med Chir 1995; 17: 593-594
28. +14→Lys) and its functional consequences in a hereditary factor X deficiency (Factor X Vorarlberg). J Biol Chem 1990; 265: 11982-11989
29. Zhang L, Jhingan A, Castellino FJ. Role of individual γ-carboxyglutamic acid residues of activated human protein C in defining its in vitro anticoagulant activity. Blood 1992; 80: 942-952
30. Zhang L, Castellino FJ. Influence of specific γ-carboxyglutamic acid residues on the integrity of the calcium-dependent confirmation of human protein C. J Biol Chem 1992; 267: 26078-26084