Schizencephaly: A Case Report

Abstract

Schizencephaly is a rare anomaly of embryonic development characterized by the presence of linear fissures containing cerebrospinal fluid and lined with dysplastic gray matter, extending from the pial surface of the cerebral hemisphere to the ependymal surface of the lateral ventricle. Schizencephaly can affect one or both cerebral hemispheres, leading to a variety of neurological symptoms such as epilepsy, motor deficits and psychomotor retardation. An antenatal diagnosis can be made; treatment is based on rehabilitation, antiepileptic drugs and supportive psychotherapy. We report the case of a 3-year-old child admitted to our department for a generalized tonicoclonic convulsive seizure resistant to antiepileptic treatment. The child's antecedents included a well-monitored pregnancy carried to term, and a vaginal delivery with no evidence of neonatal distress.  The parents are not consanguineous, but there have been two deaths in the siblings (at 15 days and 40 days) of unknown origin. The child also showed delayed psychomotor development. An MRI scan revealed a type 1 right schizencephaly with a closed cleft, but biology revealed no abnormalities, and genetic studies are still in progress. Management to date is based on antiepileptic drugs, psychomotor rehabilitation and sometimes surgery.