Niemann-Pick disease is a group of severe inherited metabolic disorders, in which sphingomyelin accumulates in lysosomes in cells. 

What is the Pathology of Niemann-Pick Disease?

The pathology of Niemann-Pick disease is: 

Etiology: The cause of Niemann-Pick disease is genetic. It is inherited in an autosomal recessive pattern.

Genes involved: Mutations in the SMPD1 gene, NPC1, or NPC2.

Pathogenesis: Deficiency of sphingomyelinase that results in lack of myelin.

Histology: The histology associated with Niemann-Pick disease shows lipid-laden macrophages in the marrow and sea-blue histiocytes on. Numerous small vacuoles of relatively uniform size are causing a foamy appearance may be seen. 

How does Niemann-Pick Disease Present?

Patients with Niemann-Pick disease typically are children. It is present in males and females equally. The symptoms, features, and clinical findings associated with Niemann-Pick disease include hepatomegaly, ataxia, dystonia, dysarthria, and sleep issues. 

How is Niemann-Pick Disease Diagnosed?

Niemann-Pick disease is diagnosed by by laboratory testing. 

How is Niemann-Pick Disease Treated?

Niemann-Pick disease is treated with cholesterol medications like statins, and potentially bone marrow transplants. 

What is the Prognosis of Niemann-Pick Disease?

The prognosis of Niemann-Pick disease is fair. Niemann Pick disease Type A is typically fatal before 3 years of age. In Type B, mortality before adulthood is common as well. But many patients live well into adulthood and may reach a normal lifespan. Type C has a variable prognosis.