상염색체 우성 야간 전두엽 간질로 추정되는 환아 1례

A Case of Suspected Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

저자들은 3년 동안 지속적으로 반복되는 수면장애 증상을 주소로 내원한 5세 남아에서 지속적 비디오-뇌파 검사로 확인된 상염색체 우성 야간 전두엽 간질로 추정되는 1례를 경험하였기에 보고하는 바이다.

Autosomal dominant nocturnal frontal lobe epilepsy(ADNFLE) is a recently identified partial epilepsy. This disorder is characterized by a variable age of onset(mostly in childhood), autosomal dominant inheritance, clusters of brief frontal nocturnal seizures, negative findings on neuroimaging, and fairly good prognosis. Carbamazepine is known to be the most useful drug in this type of epilepsy. We experienced a case of 5-year-old boy who had unusual arousal and irritability every night for 3 yeats and had sharp & wave discharges from frontal lobe region in long-term video-EEG monitoring, who was suspected as an autosomal dominant nocturnal frontal lobe epilepsy. We report a case with a brief review of literatures.