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Intracerebral hemorrhage associated with a novel antithrombin gene mutation in a neonate

O Baud1, V Picard, P Durand

  • 1Pediatric Intensive Care Unit and Biological Hematology Department, Bicêtre Teaching Hospital, Paris XI School of Medicine, AP-HP, France.

The Journal of Pediatrics
|November 20, 2001
PubMed

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.

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