Schizencephaly: clinical and imaging features in 30 infantile cases

Epidemiology of central nervous system malformations in South-Eastern Hungary

“…The patterns of accompanying CNS abnormalities and the outcome of the patients were similar as reported previously (44,56). Epilepsy with partial, occasionally generalised seizures is a common complication of schizencephaly, however it occurred only in 3 out of 10 patients in this survey.…”

“…Epilepsy with partial, occasionally generalised seizures is a common complication of schizencephaly, however it occurred only in 3 out of 10 patients in this survey. The aetiology of schizencephaly might be diverse (44,56); it was not identified in any of our cases. Several genes responsible for various forms of short rib-polydactyly syndrome have been identified recently (61) and further molecular genetic tests will be carried out for our patient presented with this syndrome in combination with a complex brain dysgenesis.…”

Correlation of Prenatal and Postnatal MRI Findings in Schizencephaly

“…Most of our subjects demonstrated bilateral defects; this finding is higher than that reported in previous publications. 9,10,15,16 In previous studies of postnatal imaging of schizencephaly, open defects were the predominant pattern in some, 10,15 while closed defects were more common in another report. 9 None of these larger case series studies had serial imaging or had documented open defects converting to closed defects as we have shown in this study.…”

“…10,13 While children with unilateral schizencephaly often present with hemiparesis and mild mental delay, those with bilateral defects may be tetraparetic with severe mental deficits. 16 Distinguishing porencephaly from schizencephaly can also be important. Defect size and location in the cortex are also important factors.…”

EMX2‐independent familial schizencephaly: Clinical and genetic analyses

“…Schizencephalic clefts are often found in the perisylvian region and lined with poorly laminated gray matter, polymicrogyria, and heterotopia. Schizencephaly is also associated in some cases with microcephaly, hydrocephalus, or other malformations such as septo-optic dysplasia [Barkovich and Kjos, 1992;Packard et al, 1997;Denis et al, 2000]. The advent of magnetic resonance imaging (MRI) techniques has afforded more descriptive diagnoses of cortical malformations, even at prenatal ages [Denis et al, 2001], and shown that cortical malformations such as schizencephaly are a frequent cause of mental retardation, epilepsy, and motor deficits [Barkovich and Kjos, 1992;Packard et al, 1997;Barkovich, 2000;Denis et al, 2000;Hayashi et al, 2002].…”