Angelman 증후군 1례

A Case of Angelman Syndrome

저자들은 전형적인 임상 증상과 뇌파 소견을 보인 환아에서 유전학적으로 염색체 15q11-13의 결실이 확인된 Angelman 증후군 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다

Angelman Syndrome is a rare genetic disorder characterized by developmental delay, speech impairment, ataxic gait, paroxysmal laughter, and seizures. The diagnosis is suspected in infants who have the characteristic clinical features and electroencephalographic(EEG) abnormalities, and is confirmed by the genetic identification of a maternally derived 19q11-13 deletion. We report a case of genetically confirmed Angelman Syndrome who had the characteristic clinical and EEG features.