Journal of the Korean Pediatric Society 2001;44(6):718-722.
Published online June 15, 2001.
Two Cases of Leigh Disease in Siblings
Su Jin Kim1, Ji Eun Kim1, Hei Won Hwang1, Ji Sun Mok1, Dong Seok Lee1, Doo Kwun Kim1, Sung Min Choi1, Woo Taek Kim2
1Department of Pediatrics, College of Medicine, Dongguk University, Kyungju, Korea
2Department of Pediatrics, College of Medicine, Taegu Catholic University, Taegu, Korea
남매에서 발생한 Leigh병
김수진1, 김지은1, 황혜원1, 목지선1, 이동석1, 김두권1, 최성민1, 김우택2
1동국대학교 의과대학 소아과학교실
2대구카톨릭대학교 의과대학 소아과학교실
Abstract
Leigh disease is a familial and degenerative disorder characterized by focal, bilateral, and usually symmetric lesions of the both gray and white matter in the brain and the spinal cord. The clinical course is variable, but in most cases, the prognosis is poor with subacute progression leading to death within months or years of life. The pathogenesis was known as mitochondrial enzyme defects of the respiratory chain system. We experienced 2 cases of Leigh diseases in a brother and sister. The brother had general weakness at 43 months of life and the sister had ataxic gait and tachypnea at 34 months of life. Their MRI revealed low signal intensity in the midbrain and pons at T1 weighted imaging. They died at 43 months and 41 months of life, respectively. We report these cases with a brief review of the related literature.
Key Words: Leigh disease, brother and sister


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