Rodon P, Ramain J P, Bruandet P, Piedon A, Akli J, Penot J
Médecine 1; Centre Hospitalier, Blois.
Rev Med Interne. 1991 Jul-Aug;12(4):299-302. doi: 10.1016/s0248-8663(05)82868-1.
We report two new cases, in the same family, of type B Niemann-Pick disease associated with sea-blue histiocytes syndrome. In one patient the disease was revealed by spontaneous rupture of the spleen. The sea-blue histiocytes syndrome is due to the histiocytes being overloaded by ceroids, and it usually occurs in a context of blood disease or thesaurismosis. Twenty-five cases of sea-blue histiocytes syndrome associated with type B Niemann-Pick disease have been reported, with rupture of the spleen in two of them. The link between the two conditions is the transformation into ceroids of the sphyngomyelin accumulated in histiocytes.
我们报告了同一家庭中两例与海蓝色组织细胞综合征相关的B型尼曼-皮克病新病例。其中一名患者因脾脏自发性破裂而被发现患有该病。海蓝色组织细胞综合征是由于类蜡质使组织细胞负荷过重所致，通常发生在血液病或贮积病的背景下。已有25例与B型尼曼-皮克病相关的海蓝色组织细胞综合征病例报告，其中两例出现脾脏破裂。这两种病症之间的联系是组织细胞中积累的鞘磷脂转化为类蜡质。
