Accumulation of increased amount of sphingomyelin in liver and spleen is found in:
|A||Gaucher’ s disease|
|D||Von Gierke’s disease|
a. Niemann-Pick disease Due to deficiency of sphingomyelinase stored material = sphingomyelin→C/f→enlarged Liver and spleen, mental retardation, cherry-Red spot. Foam cells in blood, pulmonary infiltrates.
b. Gaucher’s disease due deficiency of Acid β-Glucosidase stored material = Glucosylceramide
C/f →Enlarged Liver and spleen, MR, erosion of long bones pathological # of bones +foam cells in blood
c. Von-Gierke’s disease type I — glycogenosis due to deficiency of glu-6—phosphatase
C/f→retardation, liver and kidney enlarged due to increased glycogen content, Hypoglycemia,
Hyperuricemia, Hyper lipidemia, Lactate acidosis.
[1 and 2 — are Lipid storage disease]