Vinícius Lopes Braga1, Marcos Devanir Silva da Costa2, Rachel Riera3, Luana Pompeu Dos Santos Rocha4, Bruno Fernandes de Oliveira Santos5, Thiago Toshiyuki Matsumura Hondo4, Michelle de Oliveira Chagas4, Sergio Cavalheiro6. 1. Universidade Federal de São Paulo-Escola Paulista de Medicina (UNIFESP-EPM), Brazil. Electronic address: marcoscostaneuro@gmail.com. 2. Pediatric Oncology Institute/GRAACC, Department of Pediatrics, Universidade Federal de São Paulo, São Paulo, Brazil; Department of Neurology and Neurosurgery, Universidade Federal de São Paulo-Escola Paulista de Medicina (UNIFESP-EPM), Brazil. 3. Discipline of Emergency Medicine and Evidence-Based Medicine, Universidade Federal de São Paulo-Escola Paulista de Medicina (UNIFESP-EPM), Brazil. 4. Universidade Federal de São Paulo-Escola Paulista de Medicina (UNIFESP-EPM), Brazil. 5. Department of Neurology and Neurosurgery, Universidade Federal de São Paulo-Escola Paulista de Medicina (UNIFESP-EPM), Brazil. 6. Pediatric Oncology Institute/GRAACC, Department of Pediatrics, Universidade Federal de São Paulo, São Paulo, Brazil.
Abstract
BACKGROUND: Schizencephaly is a rare congenital cerebral malformation associated with serious neurological manifestations. The number of studies regarding schizencephaly is limited. METHODS: We conducted a literature review and extracted data from the case reports. Of 199 articles retrieved, 156 articles (734 patients) met our inclusion criteria. RESULTS: 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. CONCLUSIONS: 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.
BACKGROUND:Schizencephaly is a rare congenital cerebral malformation associated with serious neurological manifestations. The number of studies regarding schizencephaly is limited. METHODS: We conducted a literature review and extracted data from the case reports. Of 199 articles retrieved, 156 articles (734 patients) met our inclusion criteria. RESULTS: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. CONCLUSIONS: 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.