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What is A 8 month old infant is brought to the hospital complaining that baby is losing previously acquired motor skills. Baby had hepatosplenomegaly and liver biopsy showed presence of leukocytes with intracellular sphingomyelin accumulations. what is the possible diagnosis and explain in detail?
Niemann pick disease is an autosomal recessive disorder occuring due to deficiency of sphingomyelinase enzyme. This leads to accumulation of sphingomyelin in the body.