Joubert 증후군 1례

• 영문명: A Case of Joubert Syndrome
• 발행기관: 대한소아신경학회
• 저자명: 김현숙(Hyun Sook Kim) 김흥동(Heung Dong Kim ) 정철영(Churl Young Chung) 조우호(Woo Ho Cho)
• 간행물 정보: 『Annals of Child Neurology(구 대한소아신경학회지)』대한소아신경학회지 제5권 제1호, 153~158쪽, 전체 6쪽
• 주제분류: 의약학 > 의학일반
• 파일형태: PDF
• 발행일자: 1997.10.20

영문 초록

Joubert syndrome is a rare autosomal recessive condition characterized by dysgenesis of the cerebellar vermis, hypotonia, developmental delay, ataxia, abnomial eye movements, and a respiratory pattern of alternating tachypnea and apnea. Brain MRI shows the molar tooth sign resulting from dysplasia of the isthmic segment of the brain stem, superior cerebellar peduncles, and vermis. We experienced a case of Joubert syndrome, who was a 18 month-old female with episodic hyperpnea, developmental delay, abnormal eye movements and complete agenesis of the cerebellar vermis. We present this case with a brief review of literature.

키워드

Joubert syndrome Agenesis of cerebellar vermis Fourth ventricle