The Journal of Pediatrics of Korean Medicine (대한한방소아과학회지)

The Association of Korean Oriental Pediatrics (대한한방소아과학회)
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A Case Report of MELAS Syndrom

MELAS Syndrome 환아(患兒) 1예(例)에 대한 고찰(考察)

  • Jeong Hwan-Su (Department of Pediatrics, College of Oriental Medicine Kyunghee University) ;
  • Lee Jin-Yong (Department of Pediatrics, College of Oriental Medicine Kyunghee University) ;
  • Kim Deok-Gon (Department of Pediatrics, College of Oriental Medicine Kyunghee University)
  • 정환수 (경희대학교 한의과대학 소아과) ;
  • 이진용 (경희대학교 한의과대학 소아과) ;
  • 김덕곤 (경희대학교 한의과대학)
  • Published : 1999.12.15
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Abstract

MELAS is the condition associated with mutant mtDNA that most closely mimics thrombotic cerebrovascular disease. Characteristic abnormalities are two. first, 'ragged-red fibers' in muscle biopsy. second, point mutation in the mitochondrial DNA analyses. The characteristic clinical presentations of MELAS are short stature, recurrent stroke like episodes, migraine-like headache, sensorineural hearng loss, glucose intolerance and neuropathy. We now report a case of MELAS syndrome having mitochondrial DNA mutation with an A to G transition at the 3,243rd position diagnosed in Chung-ang Hospital.

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References

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