Clinical and Experimental Pediatrics

대한소아청소년과학회 (The Korean Pediatric Society)
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말초 이골증을 동반한 Joubert Syndrome 1례

Joubert syndrome with peripheral dysostosis - A case report of long term follow-up -

  • 김정태 (전북대학교 의과대학 소아과학교실) ;
  • 김선준 (전북대학교 의과대학 소아과학교실) ;
  • 주찬웅 (전북대학교 의과대학 소아과학교실) ;
  • 조수철 (전북대학교 의과대학 소아과학교실) ;
  • 이대열 (전북대학교 의과대학 소아과학교실)
  • Kim, Jung Tae (Department of Pediatrics, Chonbuk National University Medical School) ;
  • Kim, Sun Jun (Department of Pediatrics, Chonbuk National University Medical School) ;
  • Joo, Chan-Uhng (Department of Pediatrics, Chonbuk National University Medical School) ;
  • Cho, Soo Chul (Department of Pediatrics, Chonbuk National University Medical School) ;
  • Lee, Dae-Youl (Department of Pediatrics, Chonbuk National University Medical School)
  • 투고 : 2007.01.02
  • 심사 : 2007.02.15
  • 발행 : 2007.03.15
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초록

본 증례 보고는 작은 키와 단지증을 가진 전형적인 Joubert Syndrome 환아의 10년간 장기 추적 관찰한 결과이다. 환아는 영아기 초기부터 저호흡이 동반된 빈호흡, 율동성 안구 운동, 근긴장저하를 보였다. 생후 5개월에 Joubert Syndrome의 임상 증상과 전형적 MRI 소견을 보여 진단되었다. 비정상 호흡과 안구 운동은 4세경에 사라졌다. 두위는 정상 범위를 유지하였으나 키와 몸무게는 뚜렷히 정체되었다. 단순 방사선 소견 상 뇌압 상승 소견이 있는 커진 두개골과 안면골의 저형성, 손과 발의 비정상적 연골 형성을 보였다. 본 증례는 말초 이골증이 있는 Joubert Syndrome의 첫번째 보고이다.

This report describes the long-term follow-up of a 10-year-old female patient with Joubert syndrome with short stature and brachydactyly. She presented with hyperpnea alternated with hypopnea, uncontrolled jerking eye movements, and hypotonia during early infancy. She was diagnosed with Joubert syndrome based on clinical symptoms and typical MRI findings at 5 months of age. Abnormal ventilation and eye movements disappeared at around 4 years of age. Head circumference kept within normal range for her age, but her height and weight growth were markedly retarded. Simple X-ray showed an enlarged skull with increased digital markings, hypoplasia of facial bones, and abnormal enchondral bone formations in hands and feet. This article is the first report of Joubert syndrome with peripheral dysostosis.

키워드

참고문헌

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