Abstracts

Rationale: Information regarding MRI findings, clinical presentation, and outcomes of different treatment approaches in patients with schizencephaly is limited. Methods: A retrospective review of patients with schizencephaly in the academic year 2011-2012 included 4 patients (1 male, 3 female). Three had a history of seizures including 1 with status epilepticus. Age of seizure onset ranged from 9 months to 14 years, all presenting with partial and/or generalized seizures, including drop attacks in one. EEG in all 3 showed multifocal and/or generalized epileptiform abnormalities. Neuroimaging revealed left open-lipped schizencephaly in 2, right open-lipped schizencephaly in 1 and right frontal closed lip schizencephaly in another patient. The patient whose seizure onset was at 14 years of age was autistic. The other 3 patients had additional cortical malformations including heterotopia, polymicrogyria and septo-optic dysplasia. Genetic analysis was negative in 2 patients; 2 patients had never been tested. Various antiepileptic drugs (AEDs) were used. The 3 epileptic patients were on at least 2 AEDs and received rehabilitation services. Despite moderate to severe neurocognitive delays in all 3 epileptic patients, 2 were enrolled in mainstream classes at school following appropriate management. Results: Only a few small studies have investigated schizencephaly with respect to MRI findings and clinical correlation. In this center, partial seizures dominated seizure semiology with all epileptic patients requiring multiple AEDs. The patients in this study did not show correlation between the severity of cortical malformations, age of seizure onset and neurocognitive status. One patient was significantly restricted by autism whereas 2 were in mainstream classes at school after receiving appropriate antiepileptic regimen and rehabilitation services. Conclusions: Schizencephaly may present with various types of seizures and neurocognitive delays. The patients may benefit significantly from a multidisciplinary approach including appropriate AED therapy, physical/occupational/speech therapy and special education.