Carstensen H, Ornvold K
Ugeskr Laeger. 1989 Aug 7;151(32):2035-6.
Two siblings presented with fever, hepatosplenomegaly and pancytopenia at the age of six weeks. Subsequent investigations showed hypofibrinogenaemia, hypertriglyceridaemia, cellular-mediated immunodeficiency and hepatic and splenic lymphohistiocytic infiltrates showing haemophagocytosis. These findings are consistent with the diagnosis of familial haemophagocytic histiocytosis. Splenectomy in one infant was followed by brief improvement in the haematological parameters. Both infants died by the age of five months.
两名兄弟姐妹在六周龄时出现发热、肝脾肿大和全血细胞减少。随后的检查显示纤维蛋白原血症降低、高甘油三酯血症、细胞介导的免疫缺陷以及肝脏和脾脏的淋巴细胞组织细胞浸润伴噬血细胞现象。这些发现符合家族性噬血细胞性组织细胞增生症的诊断。一名婴儿接受脾切除术后血液学参数有短暂改善。两名婴儿均在五个月龄时死亡。
