肝豆状核变性并发肝性脊髓病5例临床分析及文献复习  

Hepatolenticular degeneration complicated by hepatic myelopathy:a clinical analysis of 5 cases and literature review

作　　者：王佳炜 方明娟 刘力生 王训 杨任民 胡文彬 WANG Jiawei;FANG Mingjuan;LIU Lisheng(Affiliated Hospital of Neurology Institute,Anhui University of Traditional Medicine,Hefei 230061,China)

机构地区：[1]安徽中医药大学神经病学研究所附属医院,安徽合肥230061

出　　处：《中风与神经疾病杂志》2023年第11期1030-1034,共5页Journal of Apoplexy and Nervous Diseases

基　　金：国家自然科学基金面上项目(81473535);安徽省自然科学基金青年项目(1508085SQH227)。

摘　　要：目的分析肝豆状核变性(HLD)并发肝性脊髓病(HM)患者的临床特点。方法回顾性分析2018年1月—2023年2月在安徽中医药大学神经病学研究所附属医院诊断为HLD并发HM的5例患者的临床特征、辅助检查、诊治及转归,并复习相关文献。结果5例患者中,男性4例,女性1例;HM发病年龄16~32岁。5例患者均有肝硬化失代偿期表现,3例患者有TIPS病史;2例患者脊髓MRI示胸髓异常信号;3例患者肌电图异常;4例患者脑电图示背景脑电明显变慢。2例行肝移植术治疗,2例行血管内介入治疗;1例患者因上消化道出血死亡,余4例患者病情均不同程度地恢复。结论HLD并发HM患病率极低,高铜状态、高氨血症、TIPS、贫血、低蛋白血症和门静脉高压与HM的发生有直接关系。Objective To analyze the clinical features of patients with hepatolenticular degeneration(HLD)complicated by hepatic myelopathy(HM).Methods A retrospective analysis was performed on the clinical features,auxiliary examinations,diagnosis and treatment,and outcomes of 5 patients diagnosed with HLD complicated by HM in our hospital from January 2018 to February 2023,and the relevant literature was reviewed.Results Among the 5 patients,4 were male and 1 was female;the age of onset of HM ranged from 16 to 32 years.All 5 patients had manifestations of decompensated cirrhosis,and 3 patients had a history of transjugular intrahepatic portosystemic shunt(TIPS).The spinal MRI showed abnormal signals in the thoracic cord in 2 patients.Electromyography showed abnormalities in 3 patients,and electroencephalography showed significantly slower background brain waves in 4 patients.Two patients underwent liver transplantation,and 2 patients received endovascular treatment.One patient died of upper gastrointestinal bleeding;the other 4 patients had varying degrees of recovery.Conclusion The prevalence of HLD complicated by HM is very low.High copper status,hyperammonemia,TIPS,anemia,hypoproteinemia,and portal hypertension are directly associated with HM.

关 键 词：肝豆状核变性 肝性脊髓病 临床特征 

分 类 号：R742.4[医药卫生—神经病学与精神病学]