Niemann-Pick Disease

The Niemann-Pick Disease is an autosomal recessive heredodegenerative disease with accumulation of sphingomyelin in the foam cells of the reticuloendothelial system and other tissues. 

This could be the result of the deficiency of a lysosomal hydrolase concerned with the catabolism of sphingomyelin.

Clinically, what do we see in children affected with Niemann-Pick disease?

*initially they appear normal up to the sixth month and there may be digestive disturbances and yellowish discoloration 

* liver enlargement

* loss of weight

* developmental regression

Then later, neuromuscular manifestations can be seen like

* convulsions

* myoclonia 

* and spasticity

In advanced stage, the child may have:

* enormous liver and spleen enlargement

* a red spot in the retina may be seen in  25-50% of cases

* blindness and deafness

* deterioration is progressive until death may usually occur before 4 years of age