Schizencephaly in infants with thrombophilia.
Schizencephaly is an uncommon congenital malformation of neuronal migration characterized by a gray matter-lined cleft extending from the pial surface to the ependymal surface of the lateral ventricles. Its etiology is heterogeneous and consists of hereditary factors or destructive processes that occur during the second trimester of pregnancy. We report 2 cases with schizencephaly and thrombophilia caused by mutations of the methyltetrahydrofolate reductase and the factor V Leiden genes. Their clinical presentations included motor deficits and mild cognitive deficits.
Goez
Helly
H
Child Neurodevelopment Center, Rakati, Hashmonaim 1 Street, Tiberias, Israel. h_goez@yahoo.com
Zelnik
Nathanel
N
D002465:Cell Movement / Q000235:genetics; D054022:Cerebrum / Q000002:abnormalities* / Q000503:physiopathology; D003072:Cognition Disorders / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D004252:DNA Mutational Analysis; D002658:Developmental Disabilities / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D005165:Factor V / Q000235:genetics*; D005260:Female; D018507:Gene Expression Regulation, Developmental / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D054220:Malformations of Cortical Development / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D009069:Movement Disorders / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D009154:Mutation / Q000235:genetics; D038081:Organogenesis / Q000235:genetics; D019851:Thrombophilia / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology
D005819:Genetic Markers; C095381:factor V Leiden; D005165:Factor V; D042965:Methylenetetrahydrofolate Reductase (NADPH2)