A Case of Open - lip Schizencephaly

Schizencephaly, first described by Yakovlev and Wadsworth in 1946, is a rare congenital anomaly characterized by gray matter-lined clefts that extend through the entire cerebral hemisphere, from the ependymal lining of the lateral ventricle to the subarachnoid space. Clinically, patients with schizencephaly present motor dysfunction such as hemiparesis, seizures, and variable developmental delay. Absence of septum pellucidum, gray matter heterotopia, polymicrogyria, and hypoplasia of optic nerves were also frequently found to be associated with schizencephaly. We experienced a case of open-lip schizencephaly in a one-day-old male infant with wide, tense fontanel, which was confirmed by MRI.

Schizencephaly:Correlation of Clinical Outcome with Imaging Findings

Schizencephaly is an infrequent congenital disorder of neuronal migration characterized by gray matter-lined clefts that extent through the entire cerebral hemisphere, from the ependymal lining of the lateral ventricle to the pial covering of the cortex. We have studied seven patients with schizencephaly retrospectively to correlate clinical outcome with the type, Size, and location of the clefts and to find associated brain anomalies. Three patients had bilateral clefts(one with two open lip clefts and the other two with a left open lip cleft and a right closed lip cleft), another two patients had left unilateral open lip clefts, and the rest two patients had right closed lip clefts. Clinically, these patients presented motor dysfunction such as hemiparesis, seizures, and variable developmental delay. Patients with bilateral clefts, particularly open lip type, had worse motor and developmental impairment than those with unilateral clefts. Patient with unilateral medium open lip cleft had worse motor and inte llectual impairment than those with unilateral closed lip clefts or small open lip cleft. All patients with frontal lobe involvement had motor dysfunction. Absence of septum pellucidum, gray matter heterotopia, polymicrogyria, and hypoplasia of optic nerves were also frequently found to be associated with schizencephaly. Three patients with skull canges such as enlargement of the hemicranium or erosion of the inner table of the skull were shunted but only one patient improved in the imaging study. We conclude that the severity of patient's symptoms is related to the amount, type, and location of the involved brain.