Journal of The Korean Society of Inherited Metabolic disease (대한유전성대사질환학회지)

The Korea Society of Inherited Metabolic Disease (대한유전성대사질환학회)
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A Case of Cerebral Adrenoleukodystrophy with c.1252C>T Mutation inABCD1 Gene

ABCD1 유전자 c.1252C>T의 돌연변이가 확인된 X-연관성 대뇌부신백질형성장애 1례

  • Jeong, Yu Ju (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Huh, Rimm (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Kwun, Younghee (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Lee, Jieun (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Cho, Sung Yoon (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Ki, Chang-Seok (Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Jin, Dong-Kyu (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
  • 김유선 (성균관대학교 의과대학 삼성서울병원 소아청소년과) ;
  • 허림 (성균관대학교 의과대학 삼성서울병원 소아청소년과) ;
  • 권영희 (성균관대학교 의과대학 삼성서울병원 소아청소년과) ;
  • 이지은 (성균관대학교 의과대학 삼성서울병원 소아청소년과) ;
  • 조성윤 (성균관대학교 의과대학 삼성서울병원 소아청소년과) ;
  • 기창석 (성균관대학교 의과대학 삼성서울병원 진단검사의학과) ;
  • 진동규 (성균관대학교 의과대학 삼성서울병원 소아청소년과)
  • Published : 2014.06.30
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Abstract

Adrenoleukodystrophy is an X-linked genetic disease resulting from mutations in the ABCD1 gene. Cerebral adrenoleukodystrophy is one of the phenotypes of adrenoleukodystrophy and shows progressive demyelination of brain white matter and adrenal insufficiency. We report a nine year old male who presented with rapidly progressive cognitive and neurologic deterioration. He had abnormal findings in brain imaging and elevated very long chain fatty acid level in serum. Mutation analysis of ABCD1 revealed a c. 1252C>T (p.Arg418Trp) mutation which was previously known but not reported in Korea.

부신백질형성장애는 성염색체-연관성 유전대사 질환으로 ABCD1 유전자의 돌연변이에 의해 발생한다. 이중 대뇌 부신백질형성장애는 부신백질형성장애의 한 표현형으로, 급격한 뇌백질의 탈수초화와 부신 기능 부전을 보인다. 9세 남아가 인지 및 신경 기능의 퇴행을 주소로 내원하여 시행한 혈청 내 매우 긴 사슬 지방산이 증가되어 있었고 뇌 MRI에서 특징적인 양쪽 두정-후두엽 백질의 대칭적 고신호강도 소견을 보였으며 ABCD1 유전자에 돌연변이 c. 1252C>T (p.Arg418 Trp)가 발견되어 이를 보고하는 바이다.

Keywords

References

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