目的 探讨儿童异基因造血干细胞移植术（allo-HSCT）后中枢神经系统淋巴增殖性疾病（CNS-PTLD）的临床特点。方法 回顾分析1例行allo-HSCT患儿的临床资料,并复习相关文献。结果 患儿,13岁,男性,确诊为急性髓系白血病M5型（TLS-ERG融合基因阳性）,缓解化疗达完全缓解,TLS-ERG转为阴性,之后予MAE方案及大剂量阿糖胞苷为基础的方案2个疗程后,TLS-ERG转为阳性,呈分子生物学复发,遂行allo-HSCT（父供子,HLA 5/10）。移植后+162 d出现发热,+170 d热峰升高,并出现神情淡漠、嗜睡、头痛和呕吐。结合头颅CT和强化MRI结果、脑脊液EB病毒DNA量（14 903 拷贝/mL）,以及脑脊液二代测序结果[人γ疱疹病毒4型（EB病毒）DNA 序列达13 717条],考虑原发性中枢神经系统淋巴增殖性疾病（PCNS-PTL）,予更昔洛韦抗病毒及利妥昔单抗治疗,+179 d患儿乏力、恶心、嗜睡明显好转,但+186 d突发脑出血伴脑疝,抢救无效死亡。结论 PCNS-PTLD发病率极低,诊断治疗比较困难,对于移植后患儿出现中枢神经系统症状,需及早诊断、及时治疗。

Objective To investigate the clinical feature of central nervous system post-transplant lymphoproliferative disorder (CNS-PTLD) after allogeneic hematopoietic stem cell transplantation (allo-HSCT) in children. Methods Firstly, we retrospectively analyzed the clinical data of one case after transplantation, then summarized relevant literature. Results The child, a 13-year-old male, was diagnosed with acute myeloid leukemia M5 (positive for TLS-ERG fusion gene), achieved complete remission with remission chemotherapy, turned negative for TLS-ERG, and then turned positive for TLS-ERG after 2 courses of MAE regimen and high-dose cytarabine based regimen, showed molecular biological relapse and was eligible for transplantation, so allo-HSCT was performed (paternal donor, HLA 5/10). Fever developed at +162d after transplantation, with a higher fever peak at +170d than before, and apathy, lethargy, headache and vomiting. In combination with cranial CT and enhanced MRI findings, cerebrospinal fluid EBV DNA amount (14903 copies/mL), and cerebrospinal fluid second-generation sequencing results (human gamma herpesvirus type 4 (EBV) DNA sequences up to 13717), primary central nervous system lymphoproliferative disorder (PCNS-PTL) was considered, and ganciclovir antiviral and rituximab treatment was given. The child’s malaise, nausea and drowsiness improved significantly on +179d, but a sudden cerebral hemorrhage with brain herniation occurred on +186d, and he died in resuscitation. Conclusion The incidence of PCNS-PTLD is very low, and it is difficult to diagnose and treat. For patients with central nervous system symptoms after transplantation, early diagnosis and timely treatment are necessary.