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Schizencephaly: correlations of clinical and radiologic features
A M Packard1, V S Miller, M R Delgado
1Department of Neurology, New York Hospital-Cornell University Medical Center, New York, NY 10021, USA.
Insights
Schizencephaly, a rare brain disorder, often leads to severe developmental issues in children. Unilateral closed-lip schizencephaly generally shows better outcomes than bilateral open-lip forms.
Area of Science:
- Neurology
- Developmental Pediatrics
- Pediatric Neurosurgery
Background:
- Schizencephaly is an uncommon congenital disorder affecting cerebral cortical development.
- It is a recognized cause of seizures and developmental deficits in children.
- Previous reports offer limited data on neurodevelopmental outcomes.
Purpose of the Study:
- To report the clinical and cranial imaging features of schizencephaly in a cohort of 47 children.
- To analyze the relationship between schizencephaly subtypes and neurodevelopmental outcomes.
- To identify factors influencing the presentation and prognosis of schizencephaly.
Main Methods:
- Retrospective review of clinical data and cranial imaging (MRI) for 47 children diagnosed with schizencephaly.
- Classification of schizencephaly based on radiological features: unilateral/bilateral and open-lip/closed-lip.
- Assessment of neurodevelopmental outcomes, including motor, cognitive, and language development, and seizure control.
Main Results:
- 47 children with unilateral open-lip (17), unilateral closed-lip (12), bilateral open-lip (12), and bilateral closed-lip (6) schizencephaly were analyzed.
- Schizencephalic clefts were more frequent in the anterior neocortex.
- Associated cerebral anomalies, such as absence of the septum pellucidum and focal cortical dysplasia, were present in 91% of cases.
- Seizures occurred in 57%, with a third being difficult to control.
- Overall neurodevelopmental outcome was poor: 51% severe deficits, 32% moderate impairment, 17% mild/no problems.
- Closed-lip schizencephaly and unilateral involvement were associated with milder outcomes (p < 0.05).
- Unilateral closed-lip schizencephaly showed the best outcome, while bilateral open-lip clefts correlated with severe disabilities.
- Normal language development was significantly more common in unilateral schizencephaly (48%) versus bilateral (6%) (p < 0.002).
Conclusions:
- The presentation and neurodevelopmental outcome of schizencephaly are highly variable.
- Outcomes are significantly influenced by the extent and type of cortical involvement.
- Unilateral closed-lip schizencephaly offers a more favorable prognosis compared to bilateral open-lip forms.
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.