Diagnostic imaging and problems of schizencephaly.

Background: Schizencephaly is a rare developmental malformation of the central nervous system associated with cell migration disturbances. Schizencephaly can be uni- or bilateral and is divided into two morphological types. The cleft is defined as type I ("closed lips") if there are fused clefts in cerebral mantle. In type II ("open lips") the clefts are separated and filled with cerebrospinal fluid connecting lateral ventricle with the subarachnoid space.

Material/methods: We retrospectively analysed data of patients hospitalized in the Clinical Pediatric Neurology Department of Provincial Hospital No. 2 in Rzeszow between 1998-2011. Clinical data and imaging exams were analysed in the group of children with confirmed schizencephaly.

Results: Schizencephaly was recognized in 32 children. Diagnosis was made in children at the ages between 2 weeks and 15 years - the majority of older children were born before the year 2000. Diagnostic imaging, most often magnetic resonance imaging, was performed in all of the children. In most cases coexistence of other CNS malformations was discovered. In only one patient there were no neurological symptoms, most of the children presented different developmental disorders and neurological symptoms - most often cerebral palsy and epilepsy. In the group of children with bilateral and type II schizencephaly certain symptoms occurred more often.

Conclusions: Schizencephaly is a rare central nervous system developmental disorder, which is very often associated with other severe brain malformations and in most of the cases subsequent multiple neurological symptoms. The method of choice in diagnosis of schizencephaly is magnetic resonance, which shows the degree and type of cleft, coexisting abnormalities and allows differential diagnosis. With the increased availability of this method it is possible to recognize schizencephaly more often and earlier.