title: [Bone marrow manifestation of Niemann-Pick disease. A review of histiocytic proliferations of the bone marrow].
abstract: Niemann-Pick disease is an inherited autosomal recessive lysosomal storage disorder of sphingolipids that results in an accumulation of sphingomyelin in the cells of the reticulo-histiocyte system due to an enzyme defect. Type B of this disorder is characterised by a late onset and a variable manifestation of clinical symptoms. In the presented case a bone marrow biopsy was performed because of a pancytopenia and splenomegaly. A suspicious histiocyte proliferation was found in the bone marrow, showing typically large macrophages with foamy cytoplasm. Enzymatic analysis of a fibroblast culture confirmed the diagnosis of Niemann-Pick disease type B, with reduced activity of acid sphingomyelinase. A broad spectrum of disorders is associated with an increase in histiocytic cells within the bone marrow. In particular the differential diagnosis includes typical storage diseases, such as Gaucher's disease, and other metabolic disorders. Furthermore, reactive conditions with secondary increase in bone marrow macrophages have to be considered. In accordance with the presented patient the most common causes of histiocytic disorders involving the bone marrow are reviewed.
authors.affiliation: Zentrum für Pathologie der Universität zu Köln, Joseph-Stelzmann-Strass 3 9, 50924 Köln, Germany. hm.kvasnicka@uni-koeln.de
authors.forename: H M
authors.initials: HM
authors.lastname: Kvasnicka
authors.forename: J
authors.initials: J
authors.lastname: Thiele
mesh_terms: D001853:Bone Marrow / Q000473:pathology*; D003937:Diagnosis, Differential; D015614:Histiocytosis / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009542:Niemann-Pick Diseases / Q000473:pathology*