Fetal intracerebral hemorrhage in familial thrombophilia.
We describe a fetal intracerebral hemorrhage associated with familial thrombophilia. Intraventricular and intraparenchymal hemorrhage of the left cerebral hemisphere was diagnosed at 22 weeks of gestation. Neuropathologic examination demonstrated a large germinal zone hemorrhage and ischemic changes secondary to bleeding. The fetus manifested a heterozygous Leiden mutation of the factor V gene, and a heterozygous F76L mutation of the protein C gene. The literature indicates that the coexistence of genetic risk factors of thrombophilia and fetal intracerebral hemorrhage is rare, except in the context of pregnancy-related complications. The utility of laboratory screening is discussed.
Crespin
Malvina
M
Assistance-Publique-Hôpitaux de Paris, Paris, France.
Alhenc-Gelas
Martine
M
Grangé
Gilles
G
Fallet-Bianco
Catherine
C
Fontenay
Michaela
M
D001921:Brain / Q000473:pathology; D002543:Cerebral Hemorrhage / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D005165:Factor V / Q000235:genetics; D005190:Family; D017809:Fatal Outcome; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D006801:Humans; D020125:Mutation, Missense; D011486:Protein C / Q000235:genetics; D019851:Thrombophilia / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology
D011486:Protein C; C095381:factor V Leiden; D005165:Factor V