表现为弥散加权成像高信号的肝豆状核变性1例  

A case of hepatolenticular degeneration with high signal on diffusion weighted imaging

作　　者：席虎 杨文明[1] 杨悦 江海林 Xi Hu;Yang Wenming;Yang Yue;Jiang Hailin(Brain Disease Center,the First Affiliated Hospital of Anhui University of Chinese Medicine,Hefei 230031,China)

机构地区：[1]安徽中医药大学第一附属医院脑病中心,合肥230031

出　　处：《中华神经科杂志》2023年第11期1298-1303,共6页Chinese Journal of Neurology

基　　金：国家自然科学基金(U22A20366);国家自然科学基金面上项目(81973825)。

摘　　要：肝豆状核变性(HLD)是一种罕见的神经系统遗传代谢性疾病,临床表型复杂多样且诊断困难。HLD脑区常见的病变部位为基底节、丘脑、小脑等解剖结构,颅脑磁共振成像(MRI)的经典表现为两侧豆状核对称性T_(1)WI低信号、T_(2)WI高信号,而颅脑MRI表现为脑干、双侧大脑脚、丘脑及基底节区弥散加权成像(DWI)高信号的病例极为罕见。文中报道1例DWI高信号的HLD患者的临床资料,供临床参考。Hepatolenticular degeneration(HLD)is a rare genetic metabolic disorder of the nervous system with complex and diverse clinical phenotypes and is difficult to diagnose.The common lesions of HLD brain area are basal ganglia,thalamus,cerebellum and other anatomical structures,the classic manifestations of brain magnetic resonance imaging are symmetrical bilateral lenticular nucleus with low signal on T_(1)WI and high signal on T_(2)WI,and it is extremely rare for cases with high signal intensity on diffusion weighted imaging(DWI)of the brain stem,bilateral cerebral peduncles,thalamus,and basal ganglia.This article reported a case of HLD with high signal on DWI for clinical reference.

关 键 词：肝豆状核变性 磁共振成像 弥散加权成像 

分 类 号：R742.4[医药卫生—神经病学与精神病学] R445.2[医药卫生—临床医学]