title: Intracerebral hemorrhage associated with a novel antithrombin gene mutation in a neonate.
abstract: 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.
authors.affiliation: Pediatric Intensive Care Unit and Biological Hematology Department, Bicêtre Teaching Hospital, Paris XI School of Medicine, AP-HP, France.
authors.forename: O
authors.initials: O
authors.lastname: Baud
authors.forename: V
authors.initials: V
authors.lastname: Picard
authors.forename: P
authors.initials: P
authors.lastname: Durand
authors.forename: J
authors.initials: J
authors.lastname: Duchemin
authors.forename: V
authors.initials: V
authors.lastname: Proulle
authors.forename: M
authors.initials: M
authors.lastname: Alhenc-Gelas
authors.forename: D
authors.initials: D
authors.lastname: Devictor
authors.forename: M
authors.initials: M
authors.lastname: Dreyfus
mesh_terms: D000991:Antithrombins / Q000172:deficiency* / Q000235:genetics; D002543:Cerebral Hemorrhage / Q000235:genetics*; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D017354:Point Mutation; D020246:Venous Thrombosis / Q000150:complications
chemical_list: D000991:Antithrombins