Case Series – Clinical 5

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1. CASE HISTORY
  • A 10-year-old child was referred for prolonged bleeding after tooth extraction. His history was significant for prolonged bleeding after minor trauma; he had required fresh frozen plasma infusions after experiencing a tongue laceration 2 years back. He had no history of hemarthroses. Pedigree analysis revealed a sister with significant postpartum bleeding attendant upon a vaginal delivery. His parents were consanguineous (first cousins). 
INVESTIGATIONS
  • His PLT count was normal. His prothrombin time (PT) was 21 seconds, correcting to 12 seconds upon mixing (control, 10–13 seconds). His activated partial thromboplastin time (aPTT) was 70 seconds, correcting to 35 seconds upon mixing (control, 27–33 seconds).
  • Further mixing study with adsorbed and aged plasma was also performed and both PT and APTT were corrected with adsorbed plasma however it remained prolonged with Aged plasma.
What is your most probable diagnosis ?

 

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