【摘要】 目的 孤立性视神经病变的中枢神经系统白血病(CNSL)非常罕见,且容易误诊,本文旨在探讨该病的临床特征,并总结诊治经验。方法 回顾性分析中山大学附属第三医院收治的1例表现为反复孤立性视神经病变的CNSL患者的临床资料,并系统性地分析国内外相关文献中类似病例的临床特征、误诊分析及诊治策略。结果 患者75岁男性,复发缓解病程,12年前诊断为急性淋巴细胞白血病,6年前复发1次,经化疗后血液学缓解,1年前出现反复孤立性视力下降,多次被误诊为球后视神经炎,早期激素治疗有效,本次病情进展后激素治疗无效,最终通过脑脊液细胞学检查及流式细胞术确诊为CNSL。文献回顾提示:含本例患者,7例以视力下降为表现的急性淋巴细胞白血病相关CNSL患者中有4例在完全缓解阶段发病,5例通过脑脊液流式细胞术确诊,2例通过尸检或组织活检确诊,治疗方法是全身化疗、鞘内化疗及单克隆抗体治疗,随访6例患者中有4例经治疗后视力改善,1例无改善,1例死亡。结论 对于血液学缓解期白血病患者出现不明原因视力下降时,易与视神经炎混淆,需要警惕CNSL累及视神经,脑脊液流式细胞术检查筛查中枢神经系统微小残留病灶十分重要,尤其是颅脑MRI检查阴性者,确诊依赖脑脊液流式细胞学检查。更多还原

【Abstract】 Objective Isolated optic neuropathy as a manifestation of central nervous system leukemia(CNSL) is extremely rare and frequently susceptible to misdiagnosis.This study aims to characterize the clinical features of this condition and synthesize diagnostic and therapeutic experiences.Methods A retrospective analysis was conducted on the clinical data of a CNSL patient presenting with recurrent isolated optic neuropathy,treated at the Third Affiliated Hospital of Sun Yat-sen University.Additionally,a systematic review of comparable cases in domestic and international literature was performed to analyze their clinical characteristics,misdiagnosis mechanisms,and management strategies.Results A 75-year-old male with a relapsing-remitting disease course was diagnosed with acute lymphoblastic leukemia(ALL) 12 years prior.He experienced a disease relapse 6 years ago,achieving hematological remission following chemotherapy.One year ago,he presented with recurrent isolated visual loss,repeatedly misdiagnosed as retrobulbar neuritis.Initial corticosteroid therapy was effective,but the patient failed to respond to subsequent treatment after disease progression during the current admission.CNSL was ultimately confirmed via cerebrospinal fluid(CSF) cytology and flow cytometry.Retrospective analysis:Including the present case,a retrospective review of seven ALL-associated CNSL cases presenting with visual loss revealed that four developed during the complete remission phase of the disease.Diagnosis was established via CSF flow cytometry in five patients,and by autopsy or tissue biopsy in two.Therapeutic approaches included systemic chemotherapy,intrathecal chemotherapy,and monoclonal antibody therapy.During follow-up,four of six tracked patients experienced visual improvement post-treatment,one showed no clinical improvement,and one patient died.Conclusion Unexplained visual loss in leukemia patients during hematological remission often risks misdiagnosis as optic neuritis,necessitating high clinical suspicion for CNSL involving the optic nerve.CSF flow cytometry is pivotal for screening minimal residual disease in the central nervous system,particularly in patients with negative cranial magnetic resonance imaging(MRI)findings.Definitive diagnosis hinges on CSF flow cytological analysis.更多还原