Candoni A, Grimaz S, Doretto P, Fanin R, Falcomer F, Bembi B
Department of Bone Marrow Transplantation, University Hospital, Udine, Italy.
Ann Hematol. 2001 Oct;80(10):620-2. doi: 10.1007/s002770100354.
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.
海蓝色组织细胞增多症是一种形态学表现，可与细胞更新增加的后天性疾病以及脂质代谢的先天性缺陷相关。我们报告了一例罕见的海蓝色组织细胞增多症病例，该病例与一名44岁男性的B型尼曼-匹克病（NPD）轻度表型相关，该患者表现为脾肿大和轻度血小板减少。诊断依据骨髓涂片泡沫状和海蓝色组织细胞的形态学发现，并通过测定酸性溶酶体鞘磷脂酶活性低于正常值得以证实。B型NPD是一种罕见的先天性代谢缺陷，病程和预后良好，而A型和C型总是伴有严重的神经系统受累。在我们的患者中，通过白细胞特异性酶测定（鞘磷脂酶活性缺乏）确诊。这是一种简单且无创的方法，每当临床和形态学发现相关且已排除原发性血液系统疾病时，该方法都很有用。
