Niemann-Pick Disease

 Autosomal recessive






Classification




• Types A and B characterized by acid sphingomyelinase deficiency

• Types C and D harbor cholesterol metabolism defect


Etiology/Pathogenesis




• Inherited lysosomal hydrolase deficiency leads to accumulation of sphingolipid substrate in lysosomes

• Types A and B: Deficient acid sphingomyelinase activity results in sphingomyelin accumulation

• Types C and D: Cholesterol metabolism defect leads to accumulation of cholesterol and sphingomyelin


Clinical Issues




• Estimated 0.5-1.0 cases in 100,000 newborns

• Hepatosplenomegaly with variable neurodegenerative course

• No specific treatment available


Microscopic




• Spotty accumulation of enlarged histiocytes with cytoplasmic inclusions in hepatic lobules and portal tracts

• Histiocyte inclusions are rounded and of fairly uniform size, imparting foamy appearance to cytoplasm


Ancillary Tests




• Electron microscopy shows electron-opaque, concentrically laminated inclusions within histiocyte cytoplasm


Top Differential Diagnoses




• Gaucher disease: Gaucher cells have striated, fibrillary cytoplasmic inclusions within histiocytes

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Niemann-Pick Disease in Liver
In this explanted liver, the pale-staining Niemann-Pick cells are evident both within cirrhotic nodules image and in the fibrous septa image .


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Niemann-Pick Cells Between Hepatocytes
Niemann-Pick cells are pale histiocytic cells with foamy cytoplasm image that accumulate between hepatocyte cords within the lobular hepatic parenchyma.

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Foamy Cytoplasm in Niemann-Pick Cells
Niemann-Pick cells image are pale-staining, large histocytes with amphophilic, foamy, and vacuolated cytoplasmic inclusions. These cells are distinct from the more deeply eosinophilic hepatocytes.

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Cirrhosis in Niemann-Pick Disease
Niemann-Pick disease can cause ongoing liver fibrosis with progression to cirrhosis, and subsequent complications of end-stage liver disease.


TERMINOLOGY


Abbreviations




• Niemann-Pick disease (NPD)


Synonyms




• Sphingomyelin-cholesterol lipidosis


Definitions




• Lysosomal storage disease resulting from defects in lysosomal function
• Disease subtypes

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Apr 20, 2017 | Posted by in PATHOLOGY & LABORATORY MEDICINE | Comments Off on Niemann-Pick Disease

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