摘要
目的探讨McLeod综合征的临床、实验室检查、影像学、遗传学特点及鉴别诊断要点。方法回顾性分析分别于2018年6月27日就诊于山东大学齐鲁医院(青岛)和2019年9月11日就诊于山东大学齐鲁医院的2例经基因检查确诊的McLeod综合征患者的临床特点,结合文献复习分析已报道的国人McLeod综合征的特点。结果2例患者为男性,分别为57、61岁,均为隐匿起病,病情呈缓慢进行性加重,逐渐出现全身的不自主舞蹈样动作,均累及头面部,出现吞咽困难和不自主咬舌;均伴有轻度认知障碍,1例有情绪躁动;2例患者的影像学检查均显示尾状核头部萎缩;1例患者进行了神经电生理检查,结果提示双上肢感觉神经轴索损伤为著的多发性周围神经病合并左尺神经重度受损;2例患者肌酸激酶均轻度升高,1例患者外周血涂片显示棘红细胞占13%,另1例未见棘红细胞增多。2例患者均进行了McLeod相关基因检测,其中例1基因检测结果示XK基因2号外显子存在缺失突变,该突变已被证实与McLeod综合征相关,例2基因检测结果示XK基因c.898delC p.L300*半合子突变,尚未见文献报道。结论McLeod综合征临床表现多样,鉴别诊断困难,对于累及头面部的舞蹈症、高肌酸激酶血症及神经肌肉疾病的中老年男性,可行基因检测排查McLeod综合征可能。
Objective To study the characteristics of clinical,laboratory,imaging,genetic and differential diagnosis of McLeod syndrome.Methods The clinical characteristics of 2 cases of McLeod syndrome confirmed by gene detection in Qilu Hospital(Qingdao)on June 27,2018 and in Qilu Hospital of Shandong University on September 11,2019 were analyzed retrospectively.And the characteristics of patients of McLeod syndrome reported in China were analyzed in combination with literature review.Results Both of the 2 patients were adult male,aged 57 and 61 years,respectively,with a slowly progressive course,beginning with gradually involuntary movement of trunk and extremities,involving involuntary biting of the tongue and dysphagia.Two patients had mild cognitive impairment;one patient had emotional agitation.Imaging study showed atrophy of caput nuclei caudate.Neuroelectrophysiological examination of case 1 showed sensory axon neuropathy in both upper limbs with severe damage to the left ulnar nerve.Creatine kinase(CK)was mildly elevated in 2 patients.The peripheral blood smear of 1 patient showed increased acanthocytes,accounting for 13%,the other patient showed no increased acanthocyte.McLeod syndrome related gene was tested in the 2 patients,case 1 with deletion mutation of exon 2 of XK gene,and case 2 with hemizygotic mutation of XK gene c.898delC p.L300*.Conclusions The clinical manifestations of McLeod syndrome are various and the differential diagnosis is crucial.For elderly male with cephalic facial chorea,elevated CK level and neuromuscular diseases,the possibility of McLeod syndrome should be screened.
作者
郑睿
吕鸿博
马俊
张同霞
赵冰
苗萌
刘艺鸣
焉传祝
赵翠萍
Zheng Rui;Lyu Hongbo;Ma Jun;Zhang Tongxia;Zhao Bing;Miao Meng;Liu Yiming;Yan Chuanzhu;Zhao Cuiping(Department of Neurology,Qilu Hospital(Qingdao),Cheeloo Colllege of Medicine,Shandong University,Qingdao 266035,China;Department of Neurology,Qilu Hospital,Cheeloo Colllege of Medicine,Shandong University,Jinan 250012,China)
出处
《中华神经科杂志》
CAS
CSCD
北大核心
2022年第2期133-139,共7页
Chinese Journal of Neurology
基金
国家重点研发计划(2016YFC0105901SDZ)。
