Résumé
A 10-month-old female child presented with intermittent high grade fever, pain and diffuse swelling in the left knee joint with history of ecchymosis in different areas of the body. There was radiological features of acute osteomyelitis, low fibrinogen level and bacteremia due to the presence of coagulase positive staphylococcus aureus. The child responded nicely to the treatment for acute osteomyelitis and congenital hypofibrinogenemia. So, in congenital hypofibrinogenemia, a joint swelling might be a resultant of an acute osteomyelitis, not mere hemarthrosis.
Sujets)
Maladie aigüe , Afibrinogénémie/complications , Antibactériens/usage thérapeutique , Facteur VIII/usage thérapeutique , Femelle , Fibrinogène/usage thérapeutique , Humains , Nourrisson , Ostéomyélite/traitement médicamenteux , Infections à staphylocoques/complications , Staphylococcus aureusRésumé
Congenital afibrinogenemia/hypofibrinogenemia is an extremely rare coagulation disorder. We describe a case of congenital hypofibrinogenemia in a 6-year female child, who presented with recurrent ecchymotic spots with no frank bleeding.
Sujets)
Afibrinogénémie/complications , Troubles de l'hémostase et de la coagulation/congénital , Enfant , Association thérapeutique , Femelle , Hémorragie/étiologie , Humains , Inde , Pronostic , Récidive , Indice de gravité de la maladieRésumé
La afibrinogenemia congénita, descrita en 1920, es un raro transtorno hemorrágico de carácter autosómico recesivo. Estos pacientes a pesar de tener una sangre totalmente incouguable, no suelen presentar graves hemorragias o hemertrosis espontaneas, pero los traumatismos o las intervenciones quirurgicas pueden ir seguidas de graves hmorragias. En el siguiente articulo se presenta el caso de una paciente de 2 meses de edad que se hospitalizo en el servicio de pediatria del Hospital de la Victoria en Santafé de Bogotá (Colombia) y que cumplio con los criterios clinicos y paraclinicos para dicha entidad
Sujets)
Humains , Nourrisson , Afibrinogénémie/sang , Afibrinogénémie/complications , Afibrinogénémie/diagnostic , Afibrinogénémie/traitement médicamenteux , Afibrinogénémie/épidémiologie , Afibrinogénémie/étiologie , Afibrinogénémie/génétique , Afibrinogénémie/mortalité , Afibrinogénémie/physiopathologieRésumé
A case of a 24-year-old male with congenital afibrinogenemia has been discussed. The diagnosis was made based upon history, physical examination, umbilical cord bleeding, bleeding history and similar cases were found being the patient's grandfather and brother. Laboratory tests supported the diagnosis with a prolonged bleeding time, prothrombin time (PT), undetected partial thromboplastin time (PTT), flat line on thromboelastogram, and undetected fibrinogen (less than 78 mg/dl), with substitution test which showed fibrinogen deficiency.