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Journal of Child Neurology
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Schizencephaly in Infants With Thrombophilia

Helly Goez, MD

Child Neurodevelopment Center, Rakati, Tiberias, Israel, h_goez{at}yahoo.com

Nathanel Zelnik, MD

Department of Pediatrics, Carmel Medical Center and The B. Rappaport Faculty of Medicine, Technion, Haifa, Israel

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.

Key Words: schizencephaly • methyltetrahydrofolate reductase • thrombophilia

This version was published on April 1, 2009

Journal of Child Neurology, Vol. 24, No. 4, 421-424 (2009)
DOI: 10.1177/0883073808324771
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