Niemann-Pick Disease: Medschool Microblog 4:

In this blog today I will discuss about Niemann-Pick Disease.

It is due to the deficiency of the enzyme Sphingomyelinase. As because this enzyme is involved in the breakdown of sphingomyelin, so its deficiency causes accumulation of sphingomyelin in lysosomes of  CNS and reticuloendothelial system.Similar to Tay Sachs Disease it is also common in Ashkenazi Jews.

There is the presence of cherry-red spots in the retina and presence of cytoplasmic vacuolations in neurons in Histopathology. 

Usually, he affected child is asymptomatic at birth and the symptoms appear by 6 months of age.

Features:

- Progressive massive splenomegaly.

- Lymphadenopathy.

- Mental deterioration.

- Motor manifestations.

Usually, there is death by age 2 years.

MIcroscopy:

On Electron microscopy, there is the presence of distended lysosomes with lamellated figures called " Zebra bodies".

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