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  • Title: Factor XIII deficiency presenting with intracerebral bleed.
    Author: Sawlani KK, Chaudhary SC, Roy A, Tripathi AK.
    Journal: BMJ Case Rep; 2013 Jan 10; 2013():. PubMed ID: 23314446.
    Abstract:
    It has been recognised for some time that many disorders such as vascular malformations, hypertension, collagen vascular diseases, tumours, eclampsia, central nervous system infection, bacterial endocarditis and blood dyscrasias can cause non-traumatic intracerebral haemorrhage in young adults. Factor XIII deficiency is a rare cause of intracranial bleed. The impressive clinical signs with bleeding starting in the neonatal period (prolonged bleeding from the umbilical cord), followed by severe, life-threatening episodes of intracranial haemorrhage should raise the clinical suspicion of factor XIII deficiency. Tests for factor XIII deficiency in high index clinical suspicious cases despite negative coagulative screening tests are essential for diagnosis. The diagnosis of factor XIII deficiency is difficult but has important therapeutic consequences. We are reporting here the clinical outcome of a young woman with intracranial bleed due to factor XIII deficiency. The patient was managed successfully with fresh frozen plasma transfusion and supportive treatments. The prophylactic substitution therapy of factor XIII (recombinant factor XIII, cryoprecipitate and fresh frozen plasma) enables patients to live normal lives, free from catastrophic bleeding episodes.
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