Undiagnosed Schizencephaly Presenting as Breakthrough Seizures

A 19-year-old male presented for evaluation of breakthrough seizures after inability to refill his medication following recent immigration from Haiti. Previously, the patient had never received neuroimaging due to financial constraints and resource scarcity. Computed tomography and magnetic resonance imaging obtained in the emergency department was significant for large right frontoparietal open-lip schizencephaly with mass effect, a rare congenital neurologic disorder previously undiagnosed in this patient with intractable epilepsy.

Schizencephaly is a rare congenital neurodevelopmental disorder, which has diverse presentations ranging from intractable epilepsy to variable degrees of neurocognitive dysfunction. Treatment is generally focused on seizure management and rehabilitation. Furthermore, emergency physicians must be cognizant of patients with social determinants of health, which may have formerly prevented thorough evaluation and aid in appropriate treatment of these patients.