Lab Investigations Details

Niemann-Pick Disease


Alternate Name:

Test:

Tissue sphingomyelinase assay (AB), marrow bi-opsy (lipid filled macrophages)

Sign:

Convulsions, splenomegaly, hepatomegaly

Dd:

Gaucher's disease, hyperglyceridaemia, cretin-ism

Phys:

Excessive tissue storage of sphingomyelin. Often inherited. Invariably fatal