자매에서 발생하는 Leigh 병 (아급성 괴사성 뇌척수병증)

• 영문명: A Familial Case of Leigh Disease
• 발행기관: 대한소아신경학회
• 저자명: 김준현(Jun Hyeon Kim) 김인정(In Jeong Kim) 김인석(In Seok Kim) 윤원상(Won Sang Yoon) 김은영(Eun Young Kim) 김성호(Sung Ho Kim) 우영종(Young Jong Woo)
• 간행물 정보: 『Annals of Child Neurology(구 대한소아신경학회지)』대한소아신경학회지 제5권 제1호, 147~152쪽, 전체 6쪽
• 주제분류: 의약학 > 의학일반
• 파일형태: PDF
• 발행일자: 1997.10.20

영문 초록

In two female siblings, growth and developmental retardation, poor sucking, anorexia, floppiness and respiratory difficulty developed around 2 and 4 monthes of age in each, and the respiratory symptoms rapidly aggravated to comatose states and finally into death one month later, On admission at emergency room, severe acidosis and high lactate and pyruvate levels in serum and cerebrospinal fluid were revealed in one. Brain computed tomography and magnetic resonance imaging revealed identical bilateral involvement of putamen in both of the sibs, which made the diagnosis of Leigh disease(subacute necrotizing encephalomyelopathy) possible. There is also a family history of early death in infancy period: an elder sister and a brother of mother died with unknown cause at their 5 and 10 months of age. Mitochondrial enzyme functions could not be assayed.

키워드

Leigh disease siblings