Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
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A case of Niemann-Pick disease type A

A형 Niemann-Pick 병 1례

  • Yu, Ho Yen (Department of Pediatrics, College of Medicine Kosin University) ;
  • Oh, Ji Eun (Department of Pediatrics, College of Medicine Kosin University) ;
  • Park, Jae Sun (Department of Pediatrics, College of Medicine Kosin University) ;
  • Kim, Mi Hyang (Department of Laboratory Medicine, College of Medicine Kosin University) ;
  • Kim, Sin Dong (Department of Ophthalmology, College of Medicine Kosin University) ;
  • Jung, Kyung Soon (Department of Radiology, College of Medicine Kosin University)
  • 유호연 (고신대학교 의과대학 소아과학교실) ;
  • 오지은 (고신대학교 의과대학 소아과학교실) ;
  • 박재선 (고신대학교 의과대학 소아과학교실) ;
  • 김미향 (고신대학교 의과대학 진단검사의학과교실) ;
  • 김신동 (고신대학교 의과대학 안과학교실) ;
  • 정경순 (고신대학교 의과대학 영상의학과교실)
  • Received : 2006.08.10
  • Accepted : 2006.09.28
  • Published : 2006.12.15
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Abstract

Niemann-Pick disease is a group of autosomal recessive disorders associated with hepatosplenomegaly, variable neurologic deficits, and the storage of sphingomyelin and other lipids. Seven cases have been reported in Korea. We report an additional case presenting with hypotonia, early neurodevelopmental delay, hepatosplenomegaly and death by persistent pneumonia and asphyxia at the age of 23 months. MRI of brain and fundoscopic findings of our case at 4 months of age were normal. However, abnormal intensity of the thalamus and atrophy of the right temporal lobe on the MRI and macular cherry red spots were noticed at the age of 17 months. A bone marrow biopsy showed large foamy cells, while hexosaminidase A and B levels were normal. Although biochemical or molecular workup was not done, these findings led to the diagnosis of infantile onset Niemann-Pick disease, probably type A. A brief review of the related literatures was made.

Niemann-Pick병은 lysosome내에 sphingomyelinase의 결핍으로 sphingomyelin이란 지질이 축적된 세포들이 간, 비장, 골수, 폐, 및 뇌 등에 침착되어 간, 비장 종대 및 신경증상을 나타내며, 상염색체 열성으로 유전되는 대사성 질환이다. 1914년 Niemann에 의해 처음 보고되어 Gaucher병의 한 변형으로 분류되어 있다가, 1927년 Pick에 의해 새로 분류되어 Niemann-Pick 병으로 명명되었다. 세계적으로도 희귀한 질환으로 국내에서는 1962년 정 등이 처음 보고한 이래 현재까지 저자가 조사한 바로 총 7례 정도가 보고되었다.저자들은 18개월 된 남아에서 임상증상 및 검사 소견으로 A 형 Niemann-Pick병으로 생각되는 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

Keywords

References

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