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

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

  1. Schuchmann EH, Desnick RJ. Niemann–Pick disease types A and B. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th ed. New York: McGraw-Hill 2001;3421-52
  2. Chung UC, Lee KS, Ji JH, Lee YB. Niemann-Pick's disease. J Korean Med Assoc 1962;55:1590-2
  3. Yoo YD, Kwak KR, Lee MJ, Kim YI, Lee KS. A case of Niemann-Pick's disease. J Korean Med Assoc 1968;11:143-7
  4. Kim SH, Choi YJ, Kim IH, Kim SW. A case of Niemann-Pick disease. J Korean Med Assoc 1983;26:1039-43
  5. Kim YS, Lim SH, Seo JK, Ahn HS, Moon HR. A case of Niemann-Pick disease with sea-blue histiocytes in the bone marrow. J Korean Med Assoc 1985;28:1238-44
  6. Cho HN, Lee HJ, Song JW, Choi JH, Moon HR, Ji JK. A case of type A Niemann Pick disease. J Korean Med Assoc 1987;30:1461-7
  7. Moon YB, Lim YB, Lee DH, Lee SJ, Kim IS, Kwon TJ, et al. A case of type A Niemann Pick disease. J Korean Med Assoc 1989;32:402-11
  8. Jeon EY, Choi KA, Koo CH, Lee WM, Jeon YS. A case of type A Niemann-Pick disease. J Korean Pediatr Soc 1998; 41:275-80
  9. Fukumizu M, Yoshikawa H, Takashima S, Sakuragawa N, Kurokawa T. Tay-Sachs disease : progression of changes on neuroimaging in four cases. Neuroradiology 1992;34:483-6 https://doi.org/10.1007/BF00598955
  10. Niemann A. Em unbekanntes Krakheitbild. In : Weisz B, Spirer Z, Rief S. Niemann-Pick Disease : Newer Classification Based on Genetic Mutations of the Disease. Adv Pediatr 1994;41:415-26
  11. Pick L. Uberdie lipoizelling splenohepatomegalie typus Niemann-Pick als stoffwechselekrankung. In : Weisz B, Spirer Z, Rief S. Niemann-Pick Disease : Newer Classification Based on Genetic Mutations of the Disease. Adv Pediatr 1994;41: 415-26
  12. Brady RO. The sphingolipidoses. N Engl J Med 1966;275: 312-8 https://doi.org/10.1056/NEJM196608112750606
  13. Huterer H, Wherrett JB, Poulos A, Callahan JW. Deficiency of phospholipase C acting on phosphatidylglycerol in Niemann-Pick disease. Neurology 1983;33:67-73 https://doi.org/10.1212/WNL.33.1.67
  14. Kolodny EH. Niemann-Pick disease. Curr Opin Hematol 2000;7:48-52 https://doi.org/10.1097/00062752-200001000-00009
  15. Fredrickson DS, Sloan HR, Sphingomyelin lipoidosis; Niemann-Pick disease. 3rd ed. New York : McGraw-Hill Book Co 1982:34-6
  16. Weisz B, Spirer Z, Rief S. Niemann-Pick disease : Newer classification based on genetic mutations on the disease. Adv Pediatr 1994;41:415-26
  17. Greer WL, Riddell DC, Gillan TL, Girouard GS, Sparrow SM, Byers DM, et al. The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097→T transversion in NPC1. Am J Hum Genet 1998;63:52-4 https://doi.org/10.1086/301931
  18. McGovern MM, Aron A, Brodie SE, Desnick RJ, Wasserstein MP. Natural history of type A Niemann-Pick disease. Neurology 2006;66:228-32 https://doi.org/10.1212/01.wnl.0000194208.08904.0c
  19. da Veiga, Pereira L, Desnick RJ, Adler DA, Disteche CA, Schuchman EH. Regional assignment of the human acid sphingomyelinase gene (SMPD1) by PCR analysis of somatic cell hybrids and in situ hybridization to 11p15.1-p15.4. Genomics 1991;9:229-34 https://doi.org/10.1016/0888-7543(91)90246-B
  20. Wenger DA, Kudoh T, Sattler M, Palmieri M, Yudkoff M. Niemann-Pick disease type B: prenatal diagnosis and enzymatic and chemical studies on fetal brain and liver. Am J Hum Genet 1981;33:337-44
  21. Graber D, Salvayre R, Levade T. Accurate differentiation of neuronopathic and nonneuronopathic forms of Niemann-Pick disease by evaluation of the effective residual lysosomal sphingomyelinase activity in intact cells. J Neurochem 1994; 63:1060-8 https://doi.org/10.1046/j.1471-4159.1994.63031060.x
  22. Vanier MT. Phenotypic and genetic heterogeneity in Niemann-Pick disease type C: current knowledge and practical implications. Wien Klin Wochenschr 1997;109:68-73
  23. McGovern MM, Wasserstein MP, Aron A, Desnick RJ, Schuchman EH, Brodie SE. Ocular manifestations of Niemann-Pick disease type B. Ophthalmology 2004; 111:1424-7 https://doi.org/10.1016/j.ophtha.2003.10.034
  24. Gardner LI. Endocrine and genetic disease of childhood and adolescence. 2nd ed. Philadelphia : WB Saunders Co 1975: 1127-30
  25. Vanier MT. Prenatal diagnosis of Niemann-Pick diseases type A, B and C. Prenat Diagn 2002;7:630-2
  26. Victor S, Coulter JBS, Besley GTN, Ellis I, Desnick RJ, Schuchman EH, Vellodi A. Niemann-Pick disease : Sixteenyear follow-up of allogenic bone marrow transplantation in a type B variant. J Inhert Metab 2003;26:775-85 https://doi.org/10.1023/B:BOLI.0000009950.81514.c8
  27. Desnick RJ. Enzyme replacement and enhancement therapies for lysosomal diseases. J Inhert Metab 2004;27:385-410 https://doi.org/10.1023/B:BOLI.0000031101.12838.c6