Deficiencia congénita de proteína C en un recién nacido con trombosis y necrosis de tejidos extensa / Congenital C protein deficiency in a newborn with extensive thrombosis and necrosis of tissues

Uno de los trastornos hematológicos más graves del período neonatal es la deficiencia congénita de proteína C, de presentación muy rara, y causa de enfermedad tromboembólica severa y púrpura fulminante en recién nacidos. Se puede sintetizar como una entidad clínico-patológica, de aparición aguda, con trombosis de la vasculatura de la dermis, lo cual conduce a necrosis hemorrágica y progresiva de la piel, asociada a coagulación intravascular diseminada y hemorragia perivascular, que ocurre en el período neonatal. El paciente presentado exhibe los elementos clínico-patológicos que caracterizan la púrpura fulminante, cuyo origen se debe a una deficiencia hereditaria de proteína C, lo cual condujo a la aparición de complicaciones trombóticas severas(AU)

One of the most serious hematological disorders of the neonatal period is congenital C protein deficiency of very rare occurrence and the main cause of severe thromboembolic disease and purpura fulminans in newborns. It may be summarized as a clinical and pathological entity of acute occurrence, with dermis vasculature thrombosis that leads to progressive hemorrhagic necrosis of the skin, associated to disseminate intravascular coagulation and perivascular hemorrhage in the neonatal period. The patient of this report showed the clinical and pathological elements characterizing purpura fulminans the origin of which is due to hereditary C protein deficiency that led to onset of severe thrombotic complications in this patient(AU)

Trombose de veia cava em adolescente com deficiência de proteínas "C" e "S" / Vena cava thrombosis in a teenager with protein

Relata-se o caso de um adolescente com 14 anos de idade, do sexo masculino, que apresentava diagnóstico de deficiência de proteína C e S e desnvolveu trombose de veia cava após treino de capoeira. Enfatiza-se os achados clínicos e dados relevantes de literatura e alerta-se para os cuidados preventivos

Defectos congénitos de antitrombina III y proteínas S y C durante el embarazo / Congenital defects of antithrombin III and proteins C and S during pregnancy: report of ten cases

We report 10 patients with congenital deficiencies of the natural anticoagulant proteins S, C and antithrombin III. Thirteen of a total of 30 pregnancies were managed at the perinatal branch of our department. We discuss the mechanism of action of these proteins and their role in thrombotic events. We analyze the most frequent thrombotic complications and we discuss the general guidelines for the investigation of a patient with a suspected congenital thrombophilia with special regard to its management during pregnancy, delivery and perinatal outcome