青年男性,记忆力减退10个月余--成年脑型肾上腺脑白质营养不良  

Young male with memory loss for more than 10 months--adult cerebral adrenoleukodystrophy

作　　者：刘桃桃 刘晓黎 曹立 LIU Taotao;LIU Xiaoli;CAO Li(Department of Neurology,Shanghai Jiao Tong University Affiliated Sixth People's Hospital,shanghai 200233,Huainan 232001,China)

机构地区：[1]上海交通大学附属第六人民医院神经内科,上海200233 [2]上海市奉贤区中心医院神经内科 [3]安徽理工大学医学院

出　　处：《中国神经精神疾病杂志》2022年第2期125-128,共4页Chinese Journal of Nervous and Mental Diseases

基　　金：国家自然科学基金(编号:82071258,81870889);上海市卫生和计划生育委员会科研课题项目(编号:20184Y0056)

摘　　要：本文报告了1例病程进展迅速的成人脑型肾上腺脑白质营养不良(adrenoleukodystrophy,ALD),患者表现为快速进展的记忆力下降,无其他阳性症状及体征,头颅磁共振见白质多发异常信号。因脑脊液白蛋白轻度升高,抗谷氨酸受体(NMDAR型)抗体阳性被误诊为“自身免疫性脑炎”。2个月后复查磁共振见白质病灶范围增大,且部分强化。通过基因检测发现ABCD1基因c.1817C>T半合子变异被诊断为ALD,口服氢化可的松治疗,患者认知功能持续恶化,渐出现视力、听力损害,吞咽困难,二便失禁,发病后的26个月去世。通过对该病例的报道,提高医师对成人脑型ALD的认识,当男性患者出现快速进展的记忆力下降伴有白质脱髓鞘改变时,无论有无肾上腺皮质功能的异常,均应早期进行确诊性ABCD1基因检测。This article reports a case of a rapidly progressive adult cerebral adrenoleukodystrophy(ALD)who presented with a rapidly progressive memory loss in the early stage without other positive symptoms and signs.The patient's head MRI showed multiple abnormal signals in the white matter of the brain.He was misdiagnosed to have"autoimmune encephalitis"because of mildly elevated cerebrospinal fluid albumin and positive anti-glutamate receptor(NMDAR type)antibody(1:1).Repeated cranial MRI 2 months later showed enlarged and partially enhanced white matter lesions.The patient was found to have the c.1817 C>T hemizygous variant of the ABCD1 gene through genetic testing and diagnosed with ALD.He received symptomatic and supportive treatment with oral hydrocortisone.The patient's cognitive function continued to deteriorate,and had symptoms such as visual and hearing impairment,dysphagia and fecal incontinence.The patient died 26 months after the onset.The purpose of reporting this case is to increase awareness of adult cerebral ALD among physicians.When male patients have rapidly progressive memory loss and demyelinating changes of white matter clinically,diagnostic ABCD1 gene testing should be carried out early regardless of whether the patient has abnormal adrenocortical function.

关 键 词：肾上腺脑白质营养不良 肾上腺功能不全 ABCD1基因 自身免疫性脑炎 记忆力 脱髓鞘 认知 障碍 

分 类 号：R742[医药卫生—神经病学与精神病学]