Schizencephaly in children: Clinical features and associated findings

Objective: To evaluate clinical features and associated findings of schizencephaly in children. Materials and Methods: Children with a diagnosis of schizencephaly aged less than 15 years between January 2005 and December 2015 were retrospectively reviewed. Demographic data, age at the onset, clinical features, and associated central nervous system (CNS) malformation were reviewed, retrieved, and recorded into a standard case record form. Results: Seventy-five patients were included in the present study. Bilateral open-lip schizencephaly was the most common type and found in 35 patients (46.7%), followed by unilateral open-lip in 21 patients (28%), and unilateral closed-lip schizencephaly in 10 patients (13.3%). The most common clinical features of schizencephaly were motor disability (92%), other developmental disability (86.7%), and epilepsy (45.3%). Bilateral open-lip schizencephaly has the worst overall outcome in terms of motor deficits, other developmental disability, and epilepsy. Associated CNS findings were absent of septum pellucidum (ASP) in 60/75 (80%), optic nerve hypoplasia (ONH) in 32/63 (50.8%), septo-optic dysplasia (SOD) in 33/75 (44%), and pituitary hormone abnormalities in 12/49 (24.5%). Conclusion: There are wide varieties of clinical manifestations in patients with schizencephaly. Since association with SOD is found in up to 44% in these patients, the authors recommend that if schizencephaly was found on neuroimaging study, other associated CNS abnormalities such as ASP and dysgenesis of corpus callosum should be looked for. If SOD was considered, a formal ophthalmologic evaluation for ONH and pituitary hormone evaluation are necessary to treat these patients appropriately.