Schizencephaly

Abstract

Schizencephaly is an uncommon congenital disorder of cerebral cortical development. Although a well-recognized cause of seizures and developmental deficits in children, previous reports describe the range of neurodevelopmental outcome in only 47 patients. We report the clinical and cranial imaging features of 47 children with unilateral open-lip (17), unilateral closed-lip (12), bilateral open-lip (12), and bilateral closed-lip (6) schizencephaly, as defined radiologically. The schizencephalic cleft occurred more often in the anterior than in the posterior neocortex. Children with closed-lip schizencephaly presented with hemiparesis or motor delay whereas patients with open-lip schizencephaly presented with hydrocephalus or seizures. Forty-three patients (91%) had associated cerebral developmental anomalies, most commonly absence of the septum pellucidum (45%) and focal cortical dysplasia (40%). There was a history of seizures in 57% of cases, a third of which were classified as difficult to control. Neurodevelopmental outcome was generally poor, with 51% of patients (24/47) having severe deficits, 32% of patients (15/47) having moderate impairment, and 17% of patients (8/47) having mild or no problems. Patients with closed-lip schizencephaly were more likely to have a mild to moderate outcome than those with open-lip type (78% versus 31%; p < 0.05). Children with unilateral schizencephaly had a mild or moderate outcome more frequently than those with bilateral lesions (62% versus 28%; p < 0.05). Children who had involvement of a single lobe accounted for 88% of those with mild outcomes and 53% of those with moderate outcomes. Unilateral closed-lip schizencephaly was associated with the best neurodevelopmental outcome; in contrast, 11 of 12 children with bilateral open-lip clefts had severe disabilities. Language development was significantly more likely to be normal in those children with unilateral schizencephaly than in those with bilateral clefts (48% versus 6%; p < 0.002). Thus, the presentation and outcome of children with schizencephaly are quite variable but are related to the extent of cortex involved in the schizencephalic defect.

Aspectos clínicos em 16 pacientes com diagnóstico tomográfico de esquizencefalia

“…Therefore, our data suggest that the clinical feature is also related to the presence of other central nervous system anomalies, corroborating the findings of Granata et al (13) . The clinical feature was in agreement with data reported by other authors (6,9,14,15) , with the majority of patients presenting motor deficit and neuropsychomotor development delay (8,9) . Also, we have observed that epilepsy was more frequent and severe in patients with a more significant loss of cortical area, an aspect that has not been described in the studies of Barkovich & Kjos (5) , Granata et al (14) and Denis et al…”

Bilateral Schizencephaly Type II

“…One study reported that children with unilateral schizencephaly had a mild or moderate outcome more frequently than those with bilateral lesions (62 per cent versus 28 per cent; P < 0.05). 7 Our case, however, despite having bilateral lesions, has normal development. The infant's motor system was essentially normal.…”

“…The infant only had seizures as compared to other reported cases that show more serious manifestations. 3,7 There is only one other report of a benign presentation in the presence of a significant MRI finding. 8 Prenatal ultra sonogram (USG) allows diagnosis of schizencephaly.…”

Correlation of Prenatal and Postnatal MRI Findings in Schizencephaly

“…Defect size and location in the cortex are also important factors. 22 The presence of dysplasia and heterotopia can also contribute to a worse prognosis. 13 The prenatal diagnosis of schizencephaly and associated anomalies has an important role in prognostication and family counseling.…”