[Congenital afibrinogenemia complicated by spontaneous cerebral hemorrhages: a case report]. / Afibrinogénémie congénitale compliquée d'hémorrhagies cérébrales spontanées: à propos d'un cas.

Congenital afibrinogenemia is a rare autosomal recessive disease caused by markedly reduced or absent synthesis of fibrinogen. Consanguinity is common in affected family. Clinical manifestations range to minimal or moderate bleeding to catastrophic haemorrhage. Bleedings are often post-traumatic, sometimes spontaneous. Diagnosis is established by laboratory tests presenting trace or absence of fibrinogen. Substitutive treatment with fibrinogen concentrates or fresh frozen plasma is used. The authors reported the case of a 41-year-old male with congenital afibrinogenemia with fatal spontaneous cerebral haemorrhage. Diagnosis was made upon history, bleeding history, clinical examination, blood coagulation tests and radiography. Cerebral haemorrhage must be suspected in any patient presenting blood coagulation disorders with bleeding history. Drug therapy must be installed immediately and continued before obtention of specific radiology images which are often late in relation to clinical signs.