지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2008.1
- 수록면
- 81 - 85 (5page)
이용수
초록· 키워드
오류제보하기
Leigh syndrome (LS), or subacute necrotizing encephalomyelopathy, encompasses a group of disorders
involving mutations of either nuclear or mitochondrial DNA that result in enzymatic defects in respiratory
chain complexes or in pyruvate dehydrogenase. The disease usually affects infants and children. The
pathologic hallmarks of LS are bilateral, symmetric necrotizing lesions in the basing ganglia, thalamus,
brainstem, and spinal cord. We report 2 cases of LS with peripheral neuropathy that have not been reported
in Korea. The first case, 7 year-old girl, was misdiagnosed as a athetoid type of cerebral palsy initially,
but he has had progressive gait disturbance, dysphagia, and incontinence. We confirmed LS by clinical
findings, brain MRI, MR spectroscopy, nerve conduction study, and blood chemistry. The second case, 2
year-old boy with respiratory failure, had characteristic brain MRI, nerve conduction study, and muscle
biopsy findings consistent with LS. We reported these cases with a brief review of the related literatures.
목차
등록된 정보가 없습니다.
참고문헌 (11)
참고문헌 신청
Barkovich AJ / 1993 / Mitochondrial disorders: Analysis of their clinical and imaging characteristics / Am J Neuroradiol 14 : 1119 ~ 1137
Coker SB / 1993 / Leigh disease presenting as Guillain-Barre syndrome / Neurology 9 : 61 ~ 63
Finsterer J / 2005 / Mitochondrial neuropathy / Clin neurol neurosurg 107 : 181 ~ 186
Goebel HH / 1986 / Sural nerve biopsy studies in Leigh’s subacute necrotizing encephalomyelopathy / Muscle Nerve 9 : 165 ~ 173
Jacobs JM / 1990 / Peripheral neuropathy in Leigh’s disease / Brain 113 : 447 ~ 462
Coker SB / 1993 / Leigh disease presenting as Guillain-Barre syndrome / Neurology 9 : 61 ~ 63
Finsterer J / 2005 / Mitochondrial neuropathy / Clin neurol neurosurg 107 : 181 ~ 186
Goebel HH / 1986 / Sural nerve biopsy studies in Leigh’s subacute necrotizing encephalomyelopathy / Muscle Nerve 9 : 165 ~ 173
Jacobs JM / 1990 / Peripheral neuropathy in Leigh’s disease / Brain 113 : 447 ~ 462
함께 읽어보면 좋을 논문
논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!
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신경전도검사의 정상치에 관한 연구
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