뇌실조영술로 확인된 Joubert 증후군 1례

• 영문명: A Case of joubert Syndrome Confirmed by Ventriculography
• 발행기관: 대한소아신경학회
• 저자명: 양승(Seung Uang) 설인준(In Joon Seol)
• 간행물 정보: 『Annals of Child Neurology(구 대한소아신경학회지)』대한소아신경학회지 제3권 제2호, 189~193쪽, 전체 5쪽
• 주제분류: 의약학 > 의학일반
• 파일형태: PDF
• 발행일자: 1996.05.20

영문 초록

Joubert syndrome is characterized by episodic hyperpnea, abnormal eye movements, ataxia and mental retardation, It is known to bo inherited as an autosomal recessive trait and is more common in the offsprings of consanguineous relationships with definite preference for the male sex. We experienced a case of Joubert syndrome in 2 month old male baby who showed left side ptosis, episodic hyperpnea, abnormal eye movement and agenesis of cerebellar vermis on brain computed tomography. A review of literatures was also presented briefly.

키워드

Joubert syndrome