Clinical and Experimental Pediatrics

대한소아청소년과학회 (The Korean Pediatric Society)
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적혈구 이형성증(Dyserythropoiesis)의 소견을 보이는 부분 21-monosomy 증후군

Monosomy 21 Mosaicism in a Child with Dyserythropoiesis

  • 임재영 (경상대학교 의과대학 소아과학교실) ;
  • 서지현 (경상대학교 의과대학 소아과학교실) ;
  • 최명범 (경상대학교 의과대학 소아과학교실) ;
  • 박찬후 (경상대학교 의과대학 소아과학교실) ;
  • 우향옥 (경상대학교 의과대학 소아과학교실) ;
  • 윤희상 (경상대학교 의과대학 소아과학교실)
  • Lim, Jae-Young (Department Of Pediatrics, Gyeong Sang National University, College of Medicine) ;
  • Seo, Ji-Hyoun (Department Of Pediatrics, Gyeong Sang National University, College of Medicine) ;
  • Choi, Myoung-Bum (Department Of Pediatrics, Gyeong Sang National University, College of Medicine) ;
  • Park, Chan-Hoo (Department Of Pediatrics, Gyeong Sang National University, College of Medicine) ;
  • Woo, Hyang-Ok (Department Of Pediatrics, Gyeong Sang National University, College of Medicine) ;
  • Youn, Hee-Shang (Department Of Pediatrics, Gyeong Sang National University, College of Medicine)
  • 투고 : 2002.11.27
  • 심사 : 2003.02.07
  • 발행 : 2003.04.15
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초록

저자들은 특이한 얼굴, 근 긴장도 증가, 정신 지체와 혈액학적으로 일시적인 적혈구 이형성증(dyserythropoiesis)의 소견을 동반한 MDS 의증의 소견과 혈소판 감소증, 호산구 증가증을 동반하는 부분 21-monosomy 증후군 1례를 신생아기부터 8세까지 추적 관찰하고 보고한다. 이와 같은 예는 우리나라에서 보고되는 첫 증례라고 사료되어 간단한 문헌 고찰과 함께 보고하는 바이다.

All complete monosomy 21 appear to be lethal early in their development in humans and only survive in mosaic forms. Complete monosomy 21 is a very rare and usually debilitating genetic disorder. Partial monosomy 21 is also rare and is thought to constitute a clinical syndrome consisting of peculiar faces, hypertonia, psychomotor retardation, and slow growth. We experienced a case of monosomy 21 mosaicism. Chromosome analysis demonstrated mosaicism for cell lines in the lymphocytes examined; 45, XX, -21/46, XX. The main clinical features were craniofacial dysmorphism including high arched palate, submucosal cleft, micrognathia and arthrogryposis-like symptoms including flexion deformity of fingers. And hematological findings were revealed dyserythropoiesis, thrombocytopenia and eosinophilia. Currently, the patient has nearly compatible growth, but a mild degree of mental retardation. We report here an 8 years old female child with apparent monosomy 21 mosaicism associated with dyserythropoiesis, thrombocytopenia and eosinophilia, with a review of the associated literatures.

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