以精神行为异常起病的肝豆状核变性临床分析及文献复习  

Clinical analysis and literature review of Wilson's disease with onset of mental and behavior disorder

作　　者：解冰川[1] 王文婷[1] 申致远 鲍军强 仇福成[1] 田书娟 丁岩[2] XIE Bingchuan;WANG wenting;SHEN zhiyuan(Department of Neurology,the First Hospital of Hebei Medical University(Hebei Hospital of Xuanwu Hospital Capital Medical University),Brain Aging and Cogntitive Neuroscience Laboratory of Hebei Province,Neuromedical Technology Innovation Center of Hebei Province,Shijiazhuang 050031,China)

机构地区：[1]河北医科大学第一医院(首都医科大学宣武医院河北医院),河北省脑老化与认知神经科学实验室,河北省神经医学技术创新中心,河北石家庄050031 [2]首都医科大学宣武医院河北医院,首都医科大学宣武医院,北京100053

出　　处：《中风与神经疾病杂志》2022年第11期1023-1026,共4页Journal of Apoplexy and Nervous Diseases

基　　金：河北省卫生和计划生育委员会医学科学研究重点课题计划项目(ZL20140254)。

摘　　要：目的探讨肝豆状核变性(Wilson disease,WD)患者的临床及影像学特点、诊治、预后。方法分析1例以精神行为异常起病的肝豆状核变性患者的临床资料。结果患者16岁起病,起病时表现为自语、自笑、发呆,未引起家人重视,直至22岁方首次诊治,头部MRI示脑萎缩和双侧丘脑、脑干、小脑、桥臂、壳核T_(2)高信号,裂隙灯下K-F环阳性,血铜蓝蛋白<3 mg/dl,基因检测示ATP7B基因变异。结论精神、情感、认知障碍起病,伴颅内对称性病变,同时合并全身多系统受损时,应想到WD可能。K-F环及铜蓝蛋白、基因检测有助于早期诊断、指导治疗。Objective To investigate the clinical and imaging features,diagnosis,treatment and prognosis of patients with wilson disease(WD).Methods The clinical data of wilson's disease with mental and behavior disorder were analyzed.Results The patient started the disease at the age of 16.At the beginning of the disease,she was talking to herself,laughing and in a daze,which did not attract the attention of her family.The first diagnosis and treatment was not made until the age of 22.Brain atrophy and T_(2)high signal in bilateral thalamus,brainstem,cerebellum,pontine arm and putamen were shown on head MRI.K-F ring was positive under slit lamp,ceruloplasmin<3 mg/dl.Gene detection showed ATP7B gene variation.Conclusion When patients start with mental,emotional,and cognitive disorders,accompanied by intracranial symmetrical lesions and combined with systemic multiple system damage,WD should be considered.K-F loop,ceruloplasmin and gene detection are helpful for early diagnosis and treatment.

关 键 词：精神行为异常 肝豆状核变性 K-F环 血铜蓝蛋白 血ATP7B基因 

分 类 号：R742.4[医药卫生—神经病学与精神病学]