Schizencephaly: A Review of 734 Patients

Schizencephaly is a rare congenital cerebral malformation associated with serious neurological manifestations. The number of studies regarding schizencephaly is limited.

We conducted a literature review and extracted data from the case reports. Of 199 articles retrieved, 156 articles (734 patients) met our inclusion criteria.

Patient characteristics included microcephaly (41.5% of patients), seizures (74.1%), bilateral cleft (41.4%), open lip (61.3%), septo-optic dysplasia (69.1%), and ventricular dilation (60.5%). The majority of clefts were in the frontal and parietal lobes. When these potential association factors were assessed by univariate logistic regression microcephaly (OR = 21.75, P < 0.001), corpus callosum agenesis (OR = 9, P < 0.001), motor impairments (OR = 6.21, P < 0.001), and bilateral clefts (OR = 6.31, P < 0.001) seems to have the strongest association, but also age at diagnosis <10 years (OR = 1.05, P < 0.001), right (OR = 1.85, P = 0.001) or left (OR = 2.71, P < 0.001) side clefts and septum pellucidum (OR = 3.7, P = 0.002) agenesis were associated with neurocognitive dysfunctions.

We describe novel findings with practical implications for predicting neurocognitive outcomes in patients with schizencephaly. Most patients had neurological impairments including motor (90.0%) or cognitive (77.5%) dysfunctions. Bilateral clefts, motor impairment, microcephaly, and corpus callosum agenesis were strongly associated with neurocognitive impairment. A lack of large cohorts of patients with schizencephaly prevented comparison of our results; most previous studies are case reports or small case series.