三例肾上腺脊髓神经病患者的临床特点分析  

Clinical features of 3 patients with adrenomyeloneuropathy

作　　者：赵思佳 孙唐娜 丁家琦 卢佳睿 郭鹏 白苗 任凯夕 郭俊 Zhao Sijia;Sun Tangna;Ding Jiaqi;Lu Jiarui;Guo Peng;Bai Miao;Ren Kaixi;Guo Jun(Department of Neurology,Tangdu Hospital,Air Force Military Medical University,Xi′an 710038,China)

机构地区：[1]空军军医大学第二附属医院神经内科,西安710038

出　　处：《中华神经医学杂志》2021年第4期393-397,共5页Chinese Journal of Neuromedicine

摘　　要：目的探讨肾上腺脊髓神经病(AMN)的临床表现、影像学特征、诊断依据。方法收集空军军医大学第二附属医院神经内科自2016年11月至2019年4月收治的3例AMN患者的临床资料,分析其临床表现、影像学特征、诊断过程等情况。结果3例患者均为青年男性,以单侧或双下肢活动不灵隐匿起病,症状呈渐进性加重。2例患者头颅MRI示脑干对称性异常信号影,1例患者胸椎MRI示脊髓明显萎缩。3例患者基因测序均可见ABCD1基因突变,2例完成家系验证,另1例患者及其母亲由于假基因干扰导致Sanger测序验证失败,但该患者的血浆极长链脂肪酸(VLCFA)含量明显升高。结论AMN多于成年起病,首发症状可表现为痉挛性截瘫;MRI检查可见脑干对称性病灶,也可出现脊髓萎缩,部分患者伴肾上腺皮质功能减退;确诊主要依靠基因筛查和血浆VLCFA含量测定。Objective To summarize the clinical manifestations,imaging characteristics,and diagnoses basis of adrenomyeloneuropathy(AMN).Methods The clinical data of 3 patients with AMN,admitted to our hospital from November 2016 to April 2019,were retrospectively collected.The clinical manifestations,imaging features,and diagnostic process of these patients were analyzed.Results Three young male patients had onset with gradual aggravation of unilateral or bilateral lower limb insufficiency.MR imaging showed symmetrical abnormal signals in brainstem in 2 patients,and atrophy of thoracic spinal cord in 1 patient.By target region capture sequencing,mutations in the ABCD1 gene were found in all 3 patients;2 underwent pedigree validation;the remaining one patient and his mother had failed Sanger sequencing validation due to pseudogene interference,and elevated plasma level of very long chain fatty acid(VLCFA)was noted in this patient.Conclusions AMN usually initiates in the adulthood with spastic paraplegia as onset.Symmetrical lesions in brainstem or atrophy of spinal cord can be manifested on MR imaging;some patients may be accompanied by adrenocortical insufficiency.The definite diagnosis mainly depends on genetic screening and determination of VLCFA level in the blood.

关 键 词：肾上腺脊髓神经病 痉挛性截瘫 ABCD1基因 极长链脂肪酸 

分 类 号：R741[医药卫生—神经病学与精神病学]