[Ultrasound echogenic splenic tumors: nodular manifestation of type C Niemann-Pick disease].
A female patient is described with highly echogenic splenic nodes found in routine diagnosis. After CT and angiography a splenectomy was carried out. The histological finding of sea blue histiocytes and the extended family history suggested a subtype of Niemann-Pick disease. Biochemical lipid analysis of the spleen confirmed Type-C Niemann-Pick disease. Niemann-Pick disease and its subtypes are discussed briefly.
Fröhlich
E
E
Medizinische Klinik I, Krankenanstalten des Landkreises Ludwigsburg.
Harzer
K
K
Heller
T
T
Rühl
U
U
D005260:Female; D006801:Humans; D008875:Middle Aged; D009542:Niemann-Pick Diseases / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree; D012618:Sea-Blue Histiocyte Syndrome / Q000175:diagnosis; D013154:Spleen / Q000473:pathology*; D013158:Splenic Diseases / Q000175:diagnosis*; D014463:Ultrasonography / Q000379:methods*
Sonographisch echodichte Milztumoren: Knotige Manifestation eines Morbus Niemann-Pick Typ C.