肝豆状核变性并发视力下降1例报告并文献复习  

Hepatolenticular degeneration complicated by impaired vision:A case report and literature review

作　　者：张亮亮[1,2] 徐银 张杰 石永光 陈林 沙从波[2] 喻绪恩 韩永升 ZHANG Liangliang;XU Yin;ZHANG Jie(Anhui University of Chinese Medicine,Hefei 230012,China)

机构地区：[1]安徽中医药大学,安徽合肥230012 [2]安徽中医药大学神经病学研究所附属医院,安徽合肥230061 [3]安徽中医药大学神经病学研究所,安徽合肥230038 [4]皖南医学院,安徽芜湖241002

出　　处：《中风与神经疾病杂志》2025年第1期19-22,共4页Journal of Apoplexy and Nervous Diseases

基　　金：安徽省自然科学基金青年项目(2208085QH263);安徽省高校自然科学研究项目重点项目(KJ2021A0551);大健康研究院新安医学与中医药现代化研究所专项资金资助(2023CXMMTCM002)。

摘　　要：肝豆状核变性(HLD),也称Wilson病(WD)是一种少见的神经系统遗传性疾病,可表现为肝脏损害症状、锥体外系症状、精神症状以及肾脏损害症状等,然而,合并视力下降罕见。本文通过回顾性分析2022年安徽中医药大学神经病学研究所附属医院确诊的1例22岁女性,WD并发双侧视神经炎患者的视力变化、治疗及预后等资料,并进行文献复习。结果提示视力下降是WD的罕见表现,眼科医师接诊视神经萎缩和视神经炎患者时需警惕WD的可能,尽早静脉应用甲泼尼龙可能有助于改善预后。Hepatolenticular degeneration(HLD),also known as Wilson disease(WD)is an uncommon hereditary disorder of the nervous system,characterized by hepatic impairment,extrapyramidal manifestations,psychiatric symp-toms,and renal dysfunction,while impaired vision is a rare comorbidity.This article conducts a retrospective analysis of visual acuity changes,treatment,and prognosis of a female patient,aged 22 years,who were diagnosed with HLD compli-cated by bilateral neuritis in an affiliated hospital of Anhui University of Chinese Medicine in 2022,and a literature review was performed.The findings suggest that impaired vision is a rare manifestation of HLD.Ophthalmologists should con-sider the possibility of HLD in patients with optic atrophy and optic neuritis,and early intravenous administration of meth-ylprednisolone may help to improve prognosis.

关 键 词：肝豆状核变性 视力下降 视神经萎缩 视神经炎 

分 类 号：R742.4[医药卫生—神经病学与精神病学]