摘要
目的总结1例丙氨酰-转运RNA合成酶2(AARS2)基因突变相关脑白质营养不良患者的临床表现、影像学特征、基因突变位点,以进一步提高对此种罕见病的认识。方法收集北京中医药大学厦门医院与复旦大学附属华山医院2020年10月确诊的1例AARS2基因突变相关脑白质营养不良患者的临床资料。结果患者为男性,25岁,临床表现为慢性起病的运动障碍、共济失调、眼球震颤,伴银屑病。头颅磁共振成像(MRI)显示双侧白质病变、小脑萎缩:脊柱MRI示椎体不全性融合。基因检测显示患者AARS2基因存在杂合复合突变[c.985C>T chr6:44275041(p.R329C)和c.452T>C chr6:44279256(p.M151T)]。结论AARS2基因突变相关脑白质营养不良是临床上较为罕见的一种线粒体病,可表现为进展性下肢运动障碍和共济失调,认知功能相对保留,影像学上可表现为胼胝体、双侧脑室旁脑白质对称性病变。AARS2基因杂合复合突变[c.985C>T chr6:44275041(p.R329C)和c.452T>C chr6:44279256(p.M151T)]是导致遗传性脑白质营养不良的致病因素之一。
Objective To investigate the clinical features,imaging features and gene mutation of a paitent with alanyl-transfer ribonucleic acid synthetase 2(AARS2)gene mutation-related leukodystrophy and further improve the understanding of this rare disease.Methods Clinical data of a patient with leukodystrophy associated with AARS2 gene mutation diagnosed in October 2020 at Xiamen Hospital of Beijing University of Chinese Medicine and Huashan Hospital of Fudan University were collected.Results The male patient,25 years old,was admitted with the clinical manifestations,including chronic onset dyskinesia,ataxia,nystagmus and psoriasis.Head magnetic resonance imaging(MRI)showed bilateral white matter lesions and cerebellar atrophy.Spine MRI showed vertebral body incomplete fusion.Gene detection showed heterozygous compound AARS2 gene mutation[c.985C>T chr6:44275041(p.R329C)and c.452T>C chr6:44279256(p.M151T)].Conclusions AARS2 gene mutation-related leukodystrophy is a rare mitochondrial disease in clinical practice.The patient presented with progressive motor deficits in the lower limbs,ataxia,relatively retained cognitive function.MRI revealed abnormal symmetry of corpus callosum and bilateral paraventricular white matter.Heterozygous compound AARS2 gene mutations[c.985C>T chr6:44275041(p.R329C)and c.452T>C chr6:44279256(p.M151T)]are one of the pathogenic factors leading to hereditary leukodystrophy.
作者
金海鹏
杨瑛
李相良
庄璇
罗苏珊
赵重波
Jin Haipeng;Yang Ying;Li Xiangliang;Zhuang Xuan;Luo Sushan;Zhao Chongbo(Department of Acupuncture Rehabilitation,Xiamen Hospital,Beijing University of Chinese Medicine,Xiamen 361012,China;Department of Neurology,Huashan Hospital,Fudan University,Shanghai 200040,China)
出处
《中华神经科杂志》
CAS
CSCD
北大核心
2021年第8期802-807,共6页
Chinese Journal of Neurology
作者简介
通信作者:赵重波,Email:zhao_chongbo@fudan.edu.cn。
