NIEMANN-PICK DISEASE TYPE-C - NODULAR SPLENOMEGALY

Niemann-Pick type C disease (NPCD) is an autosomal recessive storage l ipidosis due to a disorder of cholesterol esterification leading to th e accumulation of sphingomyelin and cholesterol in the brain, liver, a nd spleen. The disease is usually diagnosed when neurological symptoms appear. We report an unusual presentation of NPCD in a young asymptom atic adult with isolated nodular splenomegaly.