Clinical aspects of hemimegalencephaly by means of a nationwide survey

We surveyed Japanese patients with hemimegalencephaly by means of a questionnaire. Clinical findings, including intellectual and motor function levels and epileptic symptoms, were investigated. All 44 patients (28 males and 16 females) with hemimegalencephaly were sporadic. Sixteen patients had underlying neurocutaneous syndromes. The number of patients with right-sided hemimegalencephaly (n = 29) was almost twice that of patients with left-sided hemimegalencephaly (n = 15). Forty-one patients had mental retardation and hemiparesis and 14 patients were bedridden. All patients had epileptic seizures, which first appeared within a month in 18 cases and within 6 months in 11 cases. In 42 patients, magnetic resonance imaging revealed both cortical and white-matter abnormalities in the affected hemisphere. Antiepileptic drugs were not very effective. Fifteen patients were surgically treated. Eleven patients underwent functional hemispherectomy, which resulted in fairly good seizure control and improved development. There is a correlation between the onset of epilepsy and the degree of clinical severity of motor deficit and intellectual level. Neither underlying disorders nor laterality of the affected side was related to the degree of clinical severity.