Schizencephaly: surgical features and new molecular genetic results

Schizencephaly is a rare developmental disorder characterized by a full thickness cleft within the cerebral hemispheres. Large portions of the cerebral hemispheres may be missing and are replaced by cerebrospinal fluid (CSF). The walls of the clefts are lined by polymicrogyric grey matter and are covered by the so-called "pialependymal seam". The cleft may be unilateral or bilateral, and if bilateral are fairly symmetrical. Their dimensions can be small or large. The clinical features may vary from a normal to a severe development delay. 13 patients with this anomaly have been evaluated. Using SSCP (single strand conformation polymorphism) analysis, as previously described (2), they were found to have a mutant homeobox gene, Emx2.