RESUMO

Fatal cerebral hemorrhage involving the left thalamus in a neonate was attributed to deep cerebral vein thrombosis. Although antithrombin levels were at the lower end of the normal range, family and genetic studies showed constitutional type I antithrombin deficiency related to a novel missense mutation in the antithrombin gene.

Assuntos

Antitrombinas/deficiência , Hemorragia Cerebral/genética , Mutação Puntual , Antitrombinas/genética , Evolução Fatal , Humanos , Recém-Nascido , Masculino , Trombose Venosa/complicações