title: Liver lesion on computed tomography and ultrasonography in adult Niemann Pick disease related to sea blue histiocyte syndrome--a case report.
abstract: The case of a 42-year-old man with Niemann Pick disease and a liver lesion is presented. The lesion was hypodense on CT and had mixed echogenicity on US. Hepatosplenomegaly, interstitial infiltration of the lungs, an absence of neurological signs, family history, laboratory data, sea blue histiocytes in the bone marrow and Niemann Pick's cells in the liver suggested a subtype of Niemann Pick disease (Type B), with a focal lesion in the liver due to thus condition. We believe that this is the first case in the literature. Niemann Pick disease and its subtypes, as also the sea blue histiocyte syndrome are briefly discussed.
authors.affiliation: Department of Diagnostic Imaging, Peripheric General Hospital of Athens, Greece.
authors.forename: K
authors.initials: K
authors.lastname: Strigaris
authors.forename: K
authors.initials: K
authors.lastname: Kokkinis
authors.forename: K
authors.initials: K
authors.lastname: Liberopoulos
authors.forename: S
authors.initials: S
authors.lastname: Kavvadias
authors.forename: M
authors.initials: M
authors.lastname: Tsouroulas
authors.forename: Z
authors.initials: Z
authors.lastname: Nikolacopoulou
mesh_terms: D000328:Adult; D001707:Biopsy, Needle; D003937:Diagnosis, Differential; D006801:Humans; D008099:Liver / Q000473:pathology*; D008297:Male; D009542:Niemann-Pick Diseases / Q000175:diagnosis* / Q000473:pathology; D012618:Sea-Blue Histiocyte Syndrome / Q000175:diagnosis* / Q000473:pathology; D014057:Tomography, X-Ray Computed; D014463:Ultrasonography