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Abstract

Niemann-Pick disease (NPD) is a rare, autosomal recessive disease, of which at least 5 subtypes are known. The disease is characterized by storage of sphingomyelin in reticuloendothelial and parenchymal cells of bone marrow, liver, and spleen. In types A, C, and D there is also an accumulation of sphingomyelin in the brain. Type A is the acute, classic, infantile form; type B is a chronic form which does not show involvement of the CNS; type C is a subacute form with moderate neurological problems; type D is the Nova Scotia variant in which late, eventually severe neurological defect occurs; and type E is an adult variant without neurological abnormalities. Only types A, C, and D will be discussed in this chapter.

Keywords

White Matter Autosomal Recessive Disease Amniotic Fluid Cell Miliary Tuberculosis Acid Sphingomyelinase 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. Aronson SM (1981) Lipidoses, mucolipidoses, and mucopolysaccharidoses. In: Vinken PJ, Bruyn GW, eds. Handbook of clinical neurology, vol 42. Amsterdam: North Holland Publishing Company: 427–479Google Scholar
  2. Barth BG (1985) Oligofrenie (deel 21). Soma Psyche 11: 1–5Google Scholar
  3. Braak H, Braak E, Goebel HH (1983) Isocortical pathology in type C Niemann-Pick disease. J Neuropathol Exp Neurol 42: 671–687PubMedCrossRefGoogle Scholar
  4. Breen L, Morris HH, Alperin JB, Schochet SS (1981) Juvenile Niemann-Pick disease with vertical supranuclear ophthalmoplegia. Arch Neurol 38: 388–390PubMedCrossRefGoogle Scholar
  5. Chilcote RR, Miller M, Dawson G, Matalon R, et al. (1981) Foamy histiocytes in the CSF of a patient with infantile Niemann-Pick disease. Am J Dis Child 135: 76–77PubMedGoogle Scholar
  6. Cogan DG, Chu FC, Barranger JA, Gregg RE (1983) Macula Halo syndrome. Variant of Niemann-Pick disease. Arch Ophthalmol 101: 1698–1700Google Scholar
  7. Cumings JN (1970) The lipidoses. In: Vinken PJ, Bruyn GW, eds. Handbook of clinical neurology, vol 10. Amsterdam: North Holland Publishing Company: 330–333Google Scholar
  8. Groth CG, Ringdén O (1984) Transplantation in relation to the treatment of inherited disease. Transplantation 38: 319–327PubMedCrossRefGoogle Scholar
  9. Huterer S, Wherrett JR, Poulos A, Callahan JW (1983) Deficiency of phospholipase C acting on phosphatidylglycerol in Niemann-Pick disease. Neurology 33: 67–73PubMedCrossRefGoogle Scholar
  10. Jolliffe DS, Sarkany I (1983) Niemann-Pick type [II and Crohn’s disease. J R Soc Med 76: 307–308PubMedGoogle Scholar
  11. Kamoshita S, Aron AM, Suzuki K, Suzuki K (1969) Infantile Niemann-Pick disease. Am J Dis Child 117: 379–394PubMedGoogle Scholar
  12. Kruth HS, Comly ME, Butler JD, Vanier MT, et al. (1986) Type C Niemann-Pick disease. J Biol Chem 261: 16769–16774PubMedGoogle Scholar
  13. Lake BD (1984) Lysosomal enzyme deficiencies. In: Hume Adams J, Corsellis JAN, Duchen LW, eds. Greenfield’s Neuropathology, 4th ed. London: Edward Arnold: 491–572Google Scholar
  14. Levade T, Salvayre R, Douste-Blazy L (1986) Sphingomyelinases and Niemann-Pick disease. J Clin Chem Clin Biochem 24: 205–220Google Scholar
  15. Nausieda PA, Klawans HL (1977) Lipid storage disorders. In: Vinken PJ, Bruyn GW, eds. Handbook of clinical neurology, vol 29. Amsterdam: North Holland Publishing Company: 353–356Google Scholar
  16. Norman RM (1970) Niemann-Pick disease. In: Vinken PJ, Bruyn GW, eds. Handbook of clinical neurology, vol 10. Amsterdam: North Holland Publishing Company: 484–508Google Scholar
  17. Oppenheimer DR, Norman RM, Tingey AH, Alherne WA (1967) Histological and chemical findings in juvenile Niemann-Pick disease. J Neurol Sci 5: 575–588CrossRefGoogle Scholar
  18. Palmer M, Green R, Maumenee IH, Valle DL, et al. (1985) Niemann-Pick disease-type C. Arch Ophthalmol 103: 817–822PubMedCrossRefGoogle Scholar
  19. Poulos A, Ranieri E, Shankaran P, Callahan JW (1984) Studies on the activation of the enzymatic hydrolysis of sphingomyelin liposomes. Biochim Biophys Acta 793: 141–148PubMedCrossRefGoogle Scholar
  20. Saifer A, Wishnow DE (1970) Disturbances of lipid metabolism. In: Vinken PJ, Bruyn GW, eds. Handbook of clinical neurology, vol 10. Amsterdam: North Holland Publishing Company: 280–286Google Scholar
  21. Spence MW, Clarke JTR, Cook HW (1983) Pathways of sphingomyelin metabolism in cultured fibroblasts from normal and sphingomyelin lipidosis subjects. J Biol Chem 258: 8595–8600PubMedGoogle Scholar
  22. Wenger DA, Kudoh T, Sattler M, Palmieri M, et al. (1981) Niemann-Pick disease type B: prenatal diagnosis and enzymatic and chemical studies on fetal brain and liver. Am J Genet 33: 337–344Google Scholar
  23. Wilson JAP, Raufman JP (1986) Case report: hepatic failure in adult Niemann-Pick disease. Am J Med Sci 292: 168–172PubMedCrossRefGoogle Scholar
  24. Winsor EJT, Welch JP (1978) Genetic and demographic aspects of nova scotia Niemann-Pick disease (type D). Am J Hum Genet 30: 530–538PubMedGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 1989

Authors and Affiliations

  • Jacob Valk
    • 1
  • Marjo S. van der Knaap
    • 2
  1. 1.Department of Diagnostic Radiology and NeuroradiologyFree University HospitalAmsterdamThe Netherlands
  2. 2.Department of Child NeurologyAcademic HospitalUtrechtThe Netherlands

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