case report of ASMD Niemann pick disease

Abstract

Niemann Pick Disease is a rare disorder of lysosomal storage of the lipid sphingomyelin and foam cell infiltration of tissues presenting with varying degrees of severity. metabolic abnormalities of two types responsible for causing NPD. acid sphingomyelinase deficiency is the first metabolic abnormality causing NPD type A and B and and second is defect in cholesterol transport causing NPD type C disease. Herewith reporting a case of Acid Sphingomyelinase Deficient (ASMD) NPD Type A.