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
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