侵袭性自然杀伤细胞白血病伴噬血细胞综合征1例

Aggressive natural killer cell leukemia with hemophagocytic lymphohistiocytosis: a case report

摘要:

患儿，男，14岁，因反复咳嗽、咳痰1月余，加重伴发热2 d入院。入院后呼吸急促，经皮血氧饱和度明显减低，急诊胸部CT平扫示双肺大片状渗出、实变影，立即行气管插管、有创呼吸机辅助通气，积极对症治疗后，病情好转。入院第10天患儿再次发热，辅助检查示EB病毒阳性及支原体抗体IgM阳性、全血细胞减少、甘油三酯升高、纤维蛋白原降低、铁蛋白和可溶性CD25水平明显升高，确诊为噬血细胞综合征。完善骨髓穿刺可见不典型淋巴细胞，依据患儿的临床表现及流式细胞术免疫表型高度考虑侵袭性自然杀伤细胞白血病。因此，当患儿出现严重感染合并全血细胞减少，病情进展快时，应警惕噬血细胞综合征，同时需排查血液系统恶性肿瘤，及早行骨髓穿刺检查，尽早明确诊断，及时治疗。

Abstract:

A boy, aged 14 years, was admitted due to recurrent cough and expectoration for more than 1 month, with aggravation and fever for 2 days. After admission, he presented with tachypnea and a significant reduction in transcutaneous oxygen saturation, and emergency chest CT examination showed large patchy exudation and consolidation of both lungs. The boy was given tracheal intubation and invasive mechanical ventilation immediately, and his condition was improved after active symptomatic treatment. On the 10th day of hospitalization, the boy experienced fever again, and the laboratory tests showed positive results for Epstein-Barr virus and Mycoplasma antibody IgM, along with pancytopenia, elevated triglycerides, decreased fibrinogen, and increased levels of ferritin and soluble CD25. The boy was diagnosed with hemophagocytic lymphohistiocytosis. Bone marrow biopsy showed the presence of atypical lymphocytes, and aggressive natural killer cell leukemia was considered according to clinical manifestations and flow cytometry immunophenotype. Therefore, the possibility of hemophagocytic lymphohistiocytosis should be suspected in case of severe infection with pancytopenia and rapid disease progression, and hematological malignancies should also be ruled out. Bone marrow biopsy should be performed as early as possible to make a confirmed diagnosis and perform timely treatment.