title: Niemann-Pick disease type C: nodular splenomegaly.
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.
authors.affiliation: Département de Radiologie, Hôpital Cantonal Universitaire de Genève, Switzerland.
authors.forename: L P
authors.initials: LP
authors.lastname: Omarini
authors.forename: S E
authors.initials: SE
authors.lastname: Frank-Burkhardt
authors.forename: T A
authors.initials: TA
authors.lastname: Seemayer
authors.forename: G
authors.initials: G
authors.lastname: Mentha
authors.forename: F
authors.initials: F
authors.lastname: Terrier
mesh_terms: D000328:Adult; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009542:Niemann-Pick Diseases / Q000145:classification / Q000150:complications / Q000175:diagnosis*; D013154:Spleen / Q000000981:diagnostic imaging / Q000473:pathology*; D013156:Splenectomy; D013163:Splenomegaly / Q000150:complications / Q000175:diagnosis*; D014057:Tomography, X-Ray Computed; D014463:Ultrasonography