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.


White Matter Autosomal Recessive Disease Amniotic Fluid Cell Miliary Tuberculosis Acid Sphingomyelinase 
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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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