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A Case of Early Onset MELAS Patient with Wolff-Parkinson-White Syndrome

안정민|김정아|강훈철|김흥동|이준수|이영목
대한소아신경학회 (the Korean Child Neurology Society)|2011.12|대한소아신경학회지 (Journal of the korean child neurology society)|제19권 제3호|pp. 266-271

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참고문헌

키워드

Mitochondrial MyopathiesMELAS syndromeWolff-Parkinson-White syndrome
주제분류신경과학

초록

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is one of the classic mitochondrial diseases characterized by symptoms of repeated episodes of hemiparesis with mitochondrial DNA mutation. We report a rare case of early onset MELAS patient confirmed by genetic analysis with Wolff-Parkinson-White syndrome.

Abstract

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is one of the classic mitochondrial diseases characterized by symptoms of repeated episodes of hemiparesis with mitochondrial DNA mutation. We report a rare case of early onset MELAS patient confirmed by genetic analysis with Wolff-Parkinson-White syndrome.

참고문헌 (15)

  1. Schmiedel J, "Mitochondrial cytopathies", J Neurol, 250, pp.267~277 (2003)
  2. Koga Y, "Heterogeneous presentation in A3243G mutation in the mitochondrial tRNA (Leu(UUR)) gene", Arch Dis Child, 82, pp.407~411 (2000)
  3. Haas RH, "Mitochondrial medicine society’s committee on diagnosis. The in-depth evaluation of suspected mitochondrial disease", Mol Genet Metab, 94, pp.16~37 (2008)
  4. Pavlakis SG, "Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome", Ann Neurol, 16, pp.481~488 (1984)
  5. Finsterer J, "Genetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu (UUR) mutation", Acta Neurol Scand, 116, pp.1~14 (2007)
  6. Sproule DM, "Wolff-Parkinson-White syndrome in Patients With MELAS", Arch Neurol, 64, pp.1625~1627 (2007)
  7. Peter NS, "The Wolff-Parkinson- White syndrome: the cellular substrate for conduction in the accessory atrioventricular pathway", Eur Heart J, 15, pp.981~987 (1994)
  8. Hirano M, "Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): current concepts", J Child Neurol, 9, pp.4~13 (1994)
  9. Hirano M, "MELAS: an original case and clinical criteria for diagnosis", Neuromuscul Disord, 2, pp.125~135 (1992)
  10. Ciafaloni E, "MELAS: clinical features, biochemistry, and molecular genetics", Ann Neurol, 31, pp.391~398 (1992)
  11. Vydt TC, "Cardiac involvement in adults with m.3243A>G MELAS gene mutation", Am J Cardiol, 99, pp.264~269 (2007)
  12. Okajima Y, "A follow up study of myocardial involvement in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)", Heart, 80, pp.292~295 (1998)
  13. Hirano M, "MELAS: an original case and clinical criteria for diagnosis", Neuromuscul Disord, 2, pp.125~135 (1992)
  14. Pavlakis SG, "Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome", Ann Neurol, 16, pp.481~488 (1984)
  15. Hermosura T, "Wolff-Parkinson- White syndrome in infants", Neonatal Netw, 29, pp.215~223 (2010)

관련 논문AI추천

Wolff-Parkinson-White Syndrome in a Patient with Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes Syndrome Mimicking Juvenile Myoclonic Epilepsy김정빈, 김하욤, 성주혜, 한정훈대한신경과학회 · Journal of Clinical Neurology2018 · 제14권 제1호The Usefulness of Muscle Biopsy in Initial Diagnostic Evaluation of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes김세훈, 백민성, 이영목연세대학교의과대학 · Yonsei Medical Journal2019 · 제60권 제1호만성 신질환을 동반한 후기발병 MELAS권형민, 민영기, 이응준, 추일연대한신경과학회 · 대한신경과학회지2017 · 제35권 제4호뇌전증지속상태를 초기증상으로 보인 멜라스증후군강철후, 김민주, 김중구, 신지용, 오정환, 최재철대한신경과학회 · 대한신경과학회지2020 · 제38권 제4호제1형 당뇨병, 소뇌 실조, 진행성 난청을 수반하는 MELAS 증후군 환자 1예강순성, 심현준, 이웅우, 최정호대한이비인후과학회 · 대한이비인후과학회지 두경부외과학2023 · 제66권 제6호Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-Like Episode Syndrome Presenting with Prolonged Visual Aura김동욱, 박소희, 정일억대한신경과학회 · Journal of Clinical Neurology2015 · 제11권 제1호

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