视网膜血管病伴白质脑病和多系统损害的临床特点(附1例报告)  

Clinical characteristics of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations(report of one case)

作　　者：刘洪泱[1] 徐薛芬[1] 吕冬俊 陈道文[1] LIU Hongyang;XÜXuefen;LU Dongjun(Department of Geriatrics,Brain Hospital Affiliated to Nanjing Medical University,Nanjing 210029,China)

机构地区：[1]南京医科大学附属脑科医院老年医学科,210029

出　　处：《临床神经病学杂志》2023年第5期362-366,共5页Journal of Clinical Neurology

摘　　要：目的 探讨视网膜血管病伴白质脑病和多系统损害(RVCL-S)的临床特征,为临床诊治RVCLS提供思路。方法 总结2022年2月我科收治的1例RVCL-S的患者临床、影像及遗传学资料,同时系统性回顾国内外文献,分析其临床特征、治疗及预后等情况。结果 该患者为51岁女性,首发神经系统症状为言语不利及左侧肢体偏瘫。病程中出现认知功能下降、抑郁及共济失调。头颅MRI示双侧脑白质病变及脑萎缩。头颅CT示颅内多发点状钙化灶。家中其他成员无相关临床症状。全基因组测序发现患者3′端修复核酸外切酶1(TREX1)基因存在1个杂合移码变异,即c. 703dup:(p. Val235Glyfs*6)。Sanger测序证实其女儿存在相同杂合变异。根据美国医学遗传学与基因组学学会指南评级为可能致病性变异。该突变位点为既往国外已报道的致病突变。结论 对视力减退合并局灶性神经功能障碍、认知下降的中青年患者,头颅MRI示双侧脑白质病变,需考虑TREX1基因突变所致RVCL-S的可能。Objective To report the clinical characteristics of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations(RVCL-S)and to enhance the understanding of the disease.Methods The detailed clinical information,imaging and genetic characteristics of the patient who was admitted to our department in Feburary 2022 were analyzed retrospectively. The clinical characteristics,treatment and prognosis of RVCL-S were analyzed in combination with the literature review. Results The patient was a 51-year-old female,with aphasia and left limb hemiplegia as the first neurological symptoms,followed by cognitive impairment,depression and ataxia. Brain MRI showed bilateral white matter lesions and brain atrophy. Brain CT showed multiple intracranial punctated calcifications. Other family members showed no related clinical symptoms. Whole exome sequencing identified a heterozygous frameshift mutation[c. 703dup:(p. Val235Glyfs*6)]of three-prime repair exonuclease-1(TREX1)gene in this patient. Sanger sequencing confirmed the same heterozygous mutation in her daughter. The mutation was rated as likely pathogenic according to the American College of Medical Genetics and Genomics(ACMG)guidelines. This mutation was a proven pathogenic mutation for RVCL-S. Conclusion RVCL-S due to TREX1 gene mutations should be considered in young and middle-aged cases of vision loss combined with focal neurological dysfunction,cognitive impairment and bilateral white matter lesions showed on brain MRI.

关 键 词：脑白质病 遗传性疾病 视力减退 认知障碍 TREX1基因 突变 

分 类 号：R741[医药卫生—神经病学与精神病学]