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

被引：0

作者：

A. Candoni

S. Grimaz

P. Doretto

R. Fanin

F. Falcomer

B. Bembi

机构：

[1] Division of Hematology,

[2] Department of Bone Marrow Transplantation,undefined

[3] University Hospital,undefined

[4] P.le S. Maria della Misericordia,undefined

[5] 33100 Udine,undefined

[6] Italy,undefined

[7] Second Department of Internal Medicine,undefined

[8] Hematological Section,undefined

[9] Hospital of Pordenone,undefined

[10] Italy,undefined

[11] Department of Clinical Chemistry,undefined

[12] Hospital of Pordenone,undefined

[13] Italy,undefined

[14] Center for Diagnosis and Treatment of Congenital Diseases of Metabolism,undefined

[15] Burlo Garofalo Institute,undefined

[16] Trieste,undefined

[17] Italy,undefined

来源：

Annals of Hematology | 2001年 / 80卷

关键词：

Sea-blue histiocytosis Niemann-Pick disease type B;

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摘要：

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.

引用

页码：620 / 622

页数：2