Résumé
We report the case of a three year old female child with combined occurrence of von Willebrand's disease and factor XIII deficiency, an extremely rare combination. The patient presented with prolonged bleeding following cuts and wounds. Clot solubility test using 5M urea was positive. Platelet aggregation using ristocetin was reduced, which corrected on adding normal plasma. Aggregation with other agonists was normal. We discuss the clinico- hematological profile of the case. Only one such case has been reported in literature in the past to the best of our knowledge.
Sujets)
Enfant d'âge préscolaire , Déficit en facteur XIII/sang , Femelle , Humains , Phénotype , Maladies de von Willebrand/sangRésumé
Twelve cases of hereditary factor XIII (FX III) deficiency diagnosed over five years (1986-1990) at Christian Medical College and Hospital, Vellore are presented here. Although all the cases had a history of umbilical cord bleeding and subsequent frequent bleeding episodes, diagnosis was considerably delayed. All but two patients required transfusions for bleeding episodes. Ten patients had a history of consanguinity in parents. Clinical features and family history are described in detail here. The ease of performing the Urea solubility test and problems in it's interpretation are highlighted. The role of prophylactic transfusion is also discussed.