Bone marrow nonneoplastic

Storage-type histiocytosis

Niemann-Pick disease

Last author update: 1 December 2006
Last staff update: 16 June 2021

Copyright: 2002-2023,, Inc.

PubMed Search: Bone marrow Niemann-Pick disease

Nat Pernick, M.D.
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Cite this page: Pernick N. Niemann-Pick disease. website. Accessed June 1st, 2023.
Definition / general
  • Autosomal recessive sphingomyelin cholesterol lipidoses
  • Types A / B: deficiency of lysosomal acid sphingomyelinase causes accumulation of sphingomyelin and other lipids in macrophages throughout the body
Microscopic (histologic) description
  • Clusters and individual foam cells up to 90 microns
  • Cytoplasm has clear vacuoles of varying size, may be mulberry or soap bubble-like
  • Nuclei are small and round with coarse chromatin
Positive stains
Negative stains
Differential diagnosis
  • Similar foam cells in hypercholesterolemia and Tangier disease
  • Also disorders with massive cell destruction that overloads body's capacity to digest lipids (thalassemia, sickle cell anemia, ITP, chronic renal failure)
Type A

Definition / general:
  • Acute neuronopathic form
  • Most common type
  • Occurs in infants
  • Presents with jaundice, hepatomegaly and profound brain damage
  • Usually death by age 2 years
  • No effective treatment

Molecular description:

Additional references:
Type B

Definition / general:
  • Chronic form (visceral form) without nervous system involvement
  • Highest incidence in those of Turkish, Arabic and North African descent
  • Uncommon in Ashkenazi Jews (Am J Hum Genet 2002;71:1413)
  • Onset of hepatosplenomegaly in preteen years
  • Good prognosis
  • May eventually require oxygen therapy due to lung involvement

  • Bone marrow transplantation
  • Enzyme replacement

Micro description:

Molecular description:

Additional references:
Type C

Definition / general:
  • Chronic neuronopathic form (NPC)
  • Rare (1 per 100K live births) disease of newborns
  • Autosomal recessive
  • May present in first few months of life with cholestatic jaundice or hepatosplenomegaly or develop in adult years
  • Fatal in some; others live into adulthood
  • 95% have mutations of NPC1 gene
  • Involves error of trafficking of cholesterol leading to accumulation of unesterified cholesterol, not sphingomyelin

Micro description:
  • Macrophages with abnormal cholesterol storage (foam cells) in 60% (Arch Dis Child 2006;91:841)
  • May also have sea blue histiocytes

Micro images:

Images hosted on other servers:

Foamy cells

Molecular description:

Additional references:
Type D

Definition / general:
  • Variable age of presentation
  • May have extensive brain damage
  • Usually moderate hepatosplenomegaly
  • Involves error of trafficking of cholesterol leading to accumulation of unesterified cholesterol, not sphingomyelin
  • Associated with family origin in Nova Scotia, Canada
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