Updated: 12/17/2019

Niemann-Pick Disease

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Overview

 
Snapshot
  • A 2-month-old boy is brought to the pediatrician by his parents due to feeding difficulties and an “enlarged” abdomen. On physical exam, there is insufficient weight gain and hepatosplenomegaly. On laboratory testing, there is a decrease in high-density lipoprotein (HDL)- cholesterol, elevated triglycerides, and an increase in LDL-cholesterol. Residual acid sphingomyelinase activity in peripheral blood leukocytes is <10% of controls.
Introduction
  • Clinical definition
    • a lipid storage disorder due to sphingomyelinase deficiency
  • Epidemiology 
    • incidence
      • rare, however
        • in Niemann-Pick disease (NPD) type A, it is more common in the Ashkenazi Jewish population
    • demographics
      • 1:1 male-to-female ratio
      • age bracket
        • dependent on type of NPD
          • type A can present as early as 3 months of age
          • type B typically occurs in early childhood
    • location 
      • neural tissue (NPD type A) and visceral organs such as
        • the spleen and liver (NPD type A and B); as well as the lung and bone marrow (NPD type B)
  • Pathophysiology
    • pathobiology
      • sphingomyelinase deficiency results in the accumulation of sphingomyelin (a type of ceramide phospholipid), which deposits in the
        • central nervous system (NPD type A)
        • liver and spleen (NPD type A and B)
        • lung and bone marrow (NPD type B)
  • Genetics
    • inheritance pattern
      • autosomal recessive
    • mutations
      • chromosome
        • 11p
      • gene
        • SMPD1 gene
      • protein encoded for
        • sphingomyelinase
  • Associated conditions
    • medical conditions and comorbidities
      • hepatosplenomegaly (NPD type A and B)
      • neurodegenerative disease (NPD type A)
  • Prognosis
    • natural history of disease
      • NPD type A is a
        • fatal disease of infancy
      • NPD type B has a more
        • variable disease of presentation and age of onset; however,
          • patients typically present in early childhood
Presentation
  • Symptoms
    • failure to thrive
    • neurologic symptoms from demyelination 
  • Physical exam
    • hepatosplenomegaly
    • cherry red pot on macula
Evaluation
  • Labs
    • residual acid sphingomyelinase activity is <10% of controls via
      • peripheral blood leukocytes or cultured skin fibroblasts
  • Histology
    • lipid-laden macrophages ("foam cells") can be found in the
      • liver, spleen, and bone marrow
Treatment
  • Conservative
    • supportive care
Complications
  • Splenic rupture
  • In patients with NPD type A, death is likely to occur by age 3
  • In patients with NPD type B, patients may survive into adulthood
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