Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
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Visually evoked potential in children with mitochondrial respiratory chain defects

소아 사립체 질환에서 시각 유발전위검사의 유용성

  • Song, Ji Eun (Department of Pediatrics, Severance Children's Hospital, Yonsei University College of Medicine) ;
  • Kim, He Min (Department of Pediatrics, Severance Children's Hospital, Yonsei University College of Medicine) ;
  • Lee, Sang-Chul (Department of Rehabilitation Medicine, Collegy of Medicine, Kwandong University) ;
  • Park, Yoon-Gghil (Departments of Rehabilitation Medicine, Yonsei University College of Medicine) ;
  • Byeon, Suk-Ho (Departments of Ophthalmology, Yonsei University College of Medicine) ;
  • Lee, Young-Mock (Department of Pediatrics, Severance Children's Hospital, Yonsei University College of Medicine) ;
  • Lee, Joon-Soo (Department of Pediatrics, Severance Children's Hospital, Yonsei University College of Medicine) ;
  • Kim, Heung-Dong (Department of Pediatrics, Severance Children's Hospital, Yonsei University College of Medicine)
  • 송지은 (연세대학교 의과대학 소아과학교실) ;
  • 김혜민 (연세대학교 의과대학 소아과학교실) ;
  • 이상철 (관동대학교 의과대학 재활의학교실) ;
  • 박윤길 (연세대학교 의과대학 재활의학교실) ;
  • 변석호 (연세대학교 의과대학 안과학교실) ;
  • 이영목 (연세대학교 의과대학 소아과학교실) ;
  • 이준수 (연세대학교 의과대학 소아과학교실) ;
  • 김흥동 (연세대학교 의과대학 소아과학교실)
  • Received : 2008.09.04
  • Accepted : 2008.11.20
  • Published : 2009.04.15
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Abstract

Purpose : Mitochondrial disorders are a clinical entity characterized by diverse symptoms and signs of involvement of various systems. Furthermore, the disorders are known to show ophthalmologic manifestations as well as neurological findings. Visually evoked potential is a sensitive measure to check the integrity of the visual pathway. In this study, we have investigated the value of visually evoked potential in mitochondrial disorders with respiratory chain defects. Methods : Nineteen patients diagnosed with mitochondrial respiratory chain complex I defect as confirmed by spectrophotometric enzyme assay in muscle samples were enrolled for this study. The patients underwent a visually evoked potential study. We classified the results into four groups and compared these with clinical ophthalmologic findings. Results : Among the 19 patients, 14 showed abnormal visually evoked potential findings. Seven patients showed abnormal clinical ophthalmologic findings. All patients with abnormal ophthalmologic findings showed abnormal visually evoked potential findings. Among the 12 patients with normal ophthalmologic findings, seven showed abnormal results in visually evoked potential. Conclusion : Visually evoked potential study could be used as an effective screening tool for mitochondrial disorders to detect ophthalmologic and neurological abnormalities.

목 적 : 사립체 질환은 여러 가지 장기의 증상을 나타내는 에너지 대사 질환으로, 뇌병증과 더불어 안과적 증상도 다양한 형태로 표현된다. 본 연구에서는 시신경에서 후두부의 뇌피질에 이르는 신경계를 평가하는 시각전위유발 검사를 사립체 질환 환아에서 시행하여 그 유용성과 가치를 분석하고자 하였다. 방 법 : 근육 조직을 이용한 분광광도 검사법에서 사립체 호흡 연쇄 복합체 I 결함으로 확진된 환아 19명을 대상으로 섬광자극 시각 유발전위검사를 시행하여, 그 결과를 정상 반응군(I), 잠복기 지연군(II), 비정상 파형군(III), 무반응 이상군(IV)으로 나누어 판정하였으며, 환아들의 임상양상과 비교하였다. 결 과 : 전체 19명 중 시각전위 유발검사에서 이상소견을 보인 환아는 14명이었고, 무반응 이상군(IV)이 6명, 비정상 파형군(III)이 6명, 잠복기 지연군(II)이 2명 관찰되었다. 망막과 시신경 검사를 포함한 안과 검진에서 이상 소견을 보인 환아는 7명이었으며, 망막 색소 침착이 3명, 시신경 위축 3명, 사시 3명, 안구진탕 1명, 시력 소실이 1명에서 나타났다. 안과 검진에서 이상 소견을 보인 7명은 모두 시각 유발전위검사에서 이상 소견을 나타내었으며, 안과 검진에서 정상 소견을 보인 12명 중에서도 7명이 시각전위유발 검사에서 이상 소견을 나타내었다. 결 론 : 시각 유발전위검사는 안과 증상을 포함하여 다양한 중추신경계 관련 증상이 동반되는 사립체 질환에서 유용한 선별 검사이다.

Keywords

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