[Schizencephaly--clinical and radiological presentation of pediatric patients].
Schizencephaly is a rare central nervous system malformation. The anomaly is characterized by uni- or bilateral clefts in the brain's cerebral hemispheres. There are 2 types of the anomaly distinguished: type I ("closed lips") if there are fused clefts in cerebral mantle and type II ("open lips") if the clefts are separated. The etiology of this malformation is not clear; both environmental (intrauterine cytomegaloviral infection) and genetic risk factors are considered (mutations in EMX2, Lhx2 genes). The aim of the study was the analysis of clinical presentation, neurodevelopment progress and seizures in children with schizencephaly.


METHODS
We examined 9 children (4 girls, 5 boys) at the age of 3 months to 11 years at the time of schizencephaly diagnosis. The neuroimaging (computed tomography--CT or/and magnetic resonance imaging--MRI) was performed in all of the patients. We found bilateral schizencephaly in 7 patients and unilateral in 2 of them; in 5 patients the brain anomalies other than schizencephaly were found. Epileptic seizures are present in 7 patients; in 2 of them the epilepsy is drug resistant. The development is delayed in all our patients, in spite of one.


CONCLUSIONS
Schizencephaly is a severe brain malformation almost always leading to developmental delay and epilepsy. We did not found the correlation between the type of anomaly and clinical course, the degree of developmental delay and the severity of epilepsy in our group patients.
Kopyta
Ilona
I
Z Katedry i Kliniki Pediatrii i Neurologii Wieku Rozwojowego Slaskiej Akademii Medycznej, Katowice.. ilonakopyta@autograf.pl
Jamroz
Ewa
E
Marszal
Elzbieta
E
Kluczewska
Ewa
E
D002540:Cerebral Cortex / Q000002:abnormalities* / Q000503:physiopathology*; D002552:Cerebral Ventricles / Q000002:abnormalities / Q000473:pathology; D014695:Cerebral Ventriculography; D002648:Child; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000209:etiology; D004827:Epilepsy / Q000209:etiology*; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009421:Nervous System Malformations / Q000150:complications* / Q000175:diagnosis*; D014057:Tomography, X-Ray Computed