两次脑脊液宏基因二代测序诊断系统性红斑狼疮并发进行性多灶性白质脑病

Progressive multifocal leukoencephalopathy in a patient with systemic lupus erythematosus diagnosed by cerebrospinal fluid next-generation sequencing test twice

35岁青年女性患者,确诊系统性红斑狼疮14年余,曾接受多种免疫抑制剂治疗,此次因头昏伴进行性左上肢麻木乏力入院。MRI显示多发性脑白质脱髓鞘病变,第一次血及脑脊液宏基因组二代测序(NGS)检测未见异常,第二次脑积液NGS检测出JC多瘤病毒,最后诊断为进行性多灶性白质脑病,予免疫抑制剂减量,并使用胸腺肽提高免疫,治疗后神经系统症状改善。

A 35-year-old female diagnosed with systemic lupus erythematosus(SLE)for more than 14 years,and received long-term immunosuppressive therapy.She was admitted for dizziness with progressive left upper extremity numbness and weakness.Brain magnetic resonance imaging(MRI)shew multiple white matter lesions of hyperintensity on T2-weighted and fluid attenuated inversion recovery images,and hypointensity on T1-weighted images.JC virus DNA was detectable by the second time next-generation sequencing(NGS)test for cerebrospinal fluid(CSF).Progressive multiple leukoencephalopathy(PML)was diagnosed,the dose of immunosuppressant was reduced,and thymosin was used to improve immunity.After that,the patient’s neurological symptoms improved and became stable for a long time.This case suggests that neurologic changes in patients with SLE should be alert to this disease.Negative results of JCV test in CSF do not rule out the diagnosis of PML when clinical manifestations and neuroimaging features weve highly suspected.It is necessary to obtain new CSF and make repeat tests.