Annals of Hematology

, Volume 80, Issue 10, pp 620–622 | Cite as

Sea-blue histiocytosis secondary to Niemann-Pick disease type B: a case report

  •  A. Candoni
  •  S. Grimaz
  •  P. Doretto
  •  R. Fanin
  •  F. Falcomer
  •  B. Bembi
Case Report

Abstract.

Sea-blue histiocytosis is a morphological finding that can be associated both with acquired conditions of increased cellular turnover and inborn errors of lipid metabolism. We report a rare case of sea-blue histiocytosis associated with a mild phenotype of Niemann-Pick disease (NPD) type B in a 44-year-old man who presented with splenomegaly and mild thrombocytopenia. Diagnosis was guided by the morphological finding in bone marrow smears of foamy and sea-blue histiocytes and confirmed by the measurement of acid lysosomal sphingomyelinase activity below normal values. NPD type B is a rare inborn error of metabolism, with a benign course and prognosis, while types A and C are always associated with severe neurological involvement. In our patient diagnosis was confirmed by the specific enzyme assay of leukocytes (deficiency in sphingomyelinase activity). This is a simple and noninvasive method that is useful whenever clinical and morphological finding are relevant, and a primary hematological disorder has been ruled out.

Sea-blue histiocytosis Niemann-Pick disease type B 

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Copyright information

© Springer-Verlag 2001

Authors and Affiliations

  •  A. Candoni
    • 1
  •  S. Grimaz
    • 2
  •  P. Doretto
    • 3
  •  R. Fanin
    • 1
  •  F. Falcomer
    • 3
  •  B. Bembi
    • 4
  1. 1.Division of Hematology, Department of Bone Marrow Transplantation, University Hospital, P.le S. Maria della Misericordia, 33100 Udine, Italy
  2. 2.Second Department of Internal Medicine, Hematological Section, Hospital of Pordenone, Italy
  3. 3.Department of Clinical Chemistry, Hospital of Pordenone, Italy
  4. 4.Center for Diagnosis and Treatment of Congenital Diseases of Metabolism, Burlo Garofalo Institute, Trieste, Italy

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