Bone marrow - nonneoplastic
Systemic disorders
Niemann-Pick disease

Author: Nat Pernick, M.D. (see Authors page)

Revised: 28 June 2017, last major update December 2006

Copyright: (c) 2002-2017, PathologyOutlines.com, Inc.

PubMed Search: Bone marrow Niemann-Pick disease

Cite this page: Niemann-Pick disease. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/bonemarrowniemann.html. Accessed December 16th, 2017.
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
Treatment
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


Treatment:
  • 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