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Niemann-Pick disease type C: nodular splenomegaly
L P Omarini1, S E Frank-Burkhardt, T A Seemayer
1Département de Radiologie, Hôpital Cantonal Universitaire de Genève, Switzerland.
Abdominal Imaging
|March 1, 1995
Abstract:
Niemann-Pick type C disease (NPCD) is an autosomal recessive storage lipidosis due to a disorder of cholesterol esterification leading to the accumulation of sphingomyelin and cholesterol in the brain, liver, and spleen. The disease is usually diagnosed when neurological symptoms appear. We report an unusual presentation of NPCD in a young asymptomatic adult with isolated nodular splenomegaly.