Journal of the Korean Society of Radiology (대한영상의학회지)

The Korean Society of Radiology (대한영상의학회)
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Detection of Cerebrovascular Disease in a Child with Hutchinson-Gilford Progeria Syndrome Using MR Angiography: A Case Report

Hutchison-Gilford 조로증 증후군 환아에서의 뇌 자기공명 혈관조영술 소견: 증례 보고

  • Jae Ho Lee (Department of Radiology, Inha University School of Medicine) ;
  • Ha Young Lee (Department of Radiology, Inha University School of Medicine) ;
  • Myung Kwan Lim (Department of Radiology, Inha University School of Medicine) ;
  • Young Hye Kang (Department of Radiology, Inha University School of Medicine)
  • 이재호 (인하대학교 의과대학 영상의학교실) ;
  • 이하영 (인하대학교 의과대학 영상의학교실) ;
  • 임명관 (인하대학교 의과대학 영상의학교실) ;
  • 강영혜 (인하대학교 의과대학 영상의학교실)
  • Received : 2022.04.13
  • Accepted : 2022.06.18
  • Published : 2022.11.01
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Abstract

Hutchinson-Gilford progeria syndrome (HGPS) is a rare, progressive, premature aging syndrome with early morbidity due to cardiovascular and cerebrovascular diseases. Clinical symptoms are very diverse, including non-specific symptoms such as growth retardation, scleroderma, alopecia, and osteoporosis, as well as hypertension and cardiovascular diseases that occur in childhood and adolescence due to accelerated vascular aging. In patients with HGPS, MR angiography is recommended for early diagnosis of asymptomatic stroke or vascular changes and to assess increased risk of cerebrovascular disease. We report the second domestic case of HGPS confirmed by genetic analysis in a 5-year-old child with typical clinical features, and the first English case report in Korea to present brain MR angiography findings.

Hutchinson-Gilford progeria 증후군(syndrome) (이하 HGPS)은 심혈관 및 뇌혈관 질환의 조기 이환율을 갖는 드문 진행성 조기 노화 증후군이다. 임상증상은 매우 다양하여 성장 부진, 경피증, 탈모증, 골다공증과 같은 비특이적 증상 외에도 가속화된 혈관 노화에 의해 유년기 및 청소년기에 발생하는 고혈압과 심뇌혈관 질환을 포함한다. HGPS 환자에게 자기공명 혈관조영술은 무증상 뇌졸중 또는 혈관 변화를 조기에 진단하고 뇌혈관 질환의 위험성 증가를 평가하기 위해 권장된다. 이 증례 보고는 전형적인 임상 특징을 보인 5세 환아에서 유전자분석으로 확진된 국내 두 번째 HGPS이며, 뇌 자기공명 혈관조영술 소견을 제시한 국내 최초 영문 증례 보고이다.

Keywords

References

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