뇌 위축을 동반한 Anagelman 증후군 1례

• 영문명: A Case of Angelman Syndrome with Left Hemicortical Atrophy
• 발행기관: 대한소아신경학회
• 저자명: 김효수(Hyo Soo Kim) 진영아(Young A Jin) 유은경(Eun Gyong Yoo) 채규영(Kyu Young Chae)
• 간행물 정보: 『Annals of Child Neurology(구 대한소아신경학회지)』대한소아신경학회지 제11권 제2호, 377~384쪽, 전체 8쪽
• 주제분류: 의약학 > 의학일반
• 파일형태: PDF
• 발행일자: 2003.11.30

국문 초록

저자들은 간질 지속상태를 주소로 내원한 환아에서 좌측 뇌반구 위축을 동반한 Angelman 증후군 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

영문 초록

Angelman syndrome is a neurogenetic disorder which results from the loss of expression of a maternal imprinted gene, UBE3A, mapped within 15q11-q13 presenting with various neurodevelopmental problems. We report a 3 year-old-girl who had severe developmental delay, speech impairment, ataxic gait, jerky movement and recurrent seizures with abnormal EEG, characteristic pattern with high amplitude slow spike-and-wave discharge on the bifrontal region. The patient was genetically confirmed Angelman syndrome who had two episode of status epilepticus with cortical atrophic changes on her left hemisphere. Angelman syndrome should be suspected in differential diagnosis in infant who has severe speech and developmental delay, tremulous movement accompanied by cryptogenic seizure disorders including characteristic EEG features.

키워드

Angelman syndrome Brain cortical atrophy EEG