Intracerebral hemorrhage associated with a novel antithrombin gene mutation in a neonate.
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.
Baud
O
O
Pediatric Intensive Care Unit and Biological Hematology Department, Bicêtre Teaching Hospital, Paris XI School of Medicine, AP-HP, France.
Picard
V
V
Durand
P
P
Duchemin
J
J
Proulle
V
V
Alhenc-Gelas
M
M
Devictor
D
D
Dreyfus
M
M
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
D000991:Antithrombins