SCHIZENCEPHALY - NEURORADIOLOGIC AND EPILEPTOLOGIC FINDINGS

Purpose: Nine patients affected by schizencephaly were analyzed, and t he epileptologic findings prospectively studied, to define the relatio ns between the anatomic brain malformations and clinical outcome. Meth ods: The schizencephaly was diagnosed by means of magnetic resonance i maging (eight cases) or computed tomography (one case). The clinical h istories of all the patients were analyzed, and a psychometric evaluat ion was made. The electroclinical features and course of epilepsy in t he six patients with epilepsy were prospectively followed up for a per iod ranging from 3 to 14 years. Results: The patients were divided int o those who were unilaterally (six) and those bilaterally (three) affe cted. The former were characterized by mild neurologic deficits and la te-onset epilepsy; their epileptologic features were consistent in ter ms of age of onset, seizure semiology, the absence of secondary genera lization, and resistance to antiepileptic treatment. The patients with bilateral schizencephaly associated with other brain malformations we re characterized by severe neurologic deficits but were only rarely af fected by epilepsy, which was always completely controlled by antiepil eptic treatment. Conclusions: Our data show that the extent of anatomi c malformation is strictly related to the severity of motor and mental impairment but not to the presence or severity of epilepsy. The absen ce of prenatal risk factors for brain damage in our series, previously described familial cases of schizencephaly, and the recent report of mutations in homeobox gene EMX2 associated with cases of schizencephal y all indicate that genetic factors may play a key role in the pathoge nesis of this brain malformation.