형제에게 발생한 MELAS 2례

• 영문명: A Two Cases of MELAS in Siblings
• 발행기관: 대한소아신경학회
• 저자명: 연율이(Yul Yi Yeon) 최병준(Byung Jun Choi ) 김영훈(Young Hoon Kim) 김종완(Jong Wan Kim ) 박성섭(Sung Sup Park ) 지제근(Je GeunJi ) 황경태(Kyung Tai Whang)
• 간행물 정보: 『Annals of Child Neurology(구 대한소아신경학회지)』대한소아신경학회지 제5권 제1호, 138~146쪽, 전체 9쪽
• 주제분류: 의약학 > 의학일반
• 파일형태: PDF
• 발행일자: 1997.10.20

영문 초록

MELAS is the condition associated with mutant mtDNA that most closely mimics thrombotic cerebrovascular disease. It is characterized by mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes. These children develop short stature and either a focal or generalized seizure disorder. Ultimately, the patient presents with an acute hemiparesis that can alternate from side to side. In this article, we report the MELAS in siblings having point mutation in the mitochondrial DNA with an A to G transition at the 3,243rd position. MELAS is recognized as one of the several distinct syndromes containing cerebral infarct. And, mitochondrial DNA analyses, serum lactate level, and muscle biopsy are diagnostic clue of this syndrome.

키워드

MELAS Siblings Mitochondrial DNA mutation