摘要
目的观察并分析国人婴幼儿型神经节苷脂沉积症患儿眼部与神经系统临床表现以及两者的相关性。方法2018年11月至2021年1月在首都医科大学附属北京儿童医院眼科及神经内科经基因检查确诊的婴幼儿型神经节苷脂沉积症患儿3例,以及通过中国知网、万方科技期刊全文数据库、美国国立医学图书馆PubMed进行检索,选取经基因、酶活性或病理检查确诊的中国人婴幼儿型神经节苷脂沉积症患儿53例,共计56例纳入研究。检索时间为建库至2021年2月,检索关键词为"神经节苷脂沉积症"、"樱桃红斑"及"中国人"。对56例患儿的发病人口学特征以及眼部、神经系统、皮肤、骨骼等其他系统表现进行分析。行眼底检查的47例患儿,根据眼底检查有无"樱桃红斑"(CS)表现分为有眼底CS组(A组)、无眼底CS组(B组),分别为20、27例。对比分析两组患儿发病年龄、性别、不同分型及神经系统表现的差异。组间年龄比较采用非参数秩和检验;组间性别、发病类型及发生率比较采用χ^(2)检验或Fisher精确检验。结果56例患儿中,男性27例,女性29例;发病年龄中位数7.0个月。GM1型、GM2型分别为33、23例。有视觉功能检查记录的44例患儿中,双眼不能追视者41例(93.2%,41/44)。行眼底检查的47例患儿中,眼底有CS 20例(42.6%,20/47)。神经系统主要表现为神经运动发育倒退或迟缓(100%,56/56),抽搐发作(58.1%,25/43),"惊跳"现象(89.7%,26/29)。有颅脑核磁共振成像检查记录的42例患儿中,可见异常表现39例(92.9%)。A组患儿"惊跳"现象和抽搐发作发生率较B组患儿高,差异有统计学意义(χ^(2)=5.815、6.182,P=0.021、0.013)。结论国人婴幼儿型神经节苷脂沉积症以GM1型为多见;眼部视力损伤以不追视为主要表现,眼底CS发生率为42.6%,发生CS的患儿神经系统损伤症状较重。
Objective To observe and analyze the clinical characteristics and correlation between the eye and nervous system in children with infantile gangliosideosis.Methods From November 2018 to January 2021,3 children with infantile ganglion lipidosis diagnosed by genetic examination in the Department of Ophthalmology and Neurology,Beijing Children's Hospital of Capital Medical University,and through China National Knowledge Infrastructure and Wanfang database and The National Library of Medicine of the United States(PubMed)were searched,and 53 cases of Chinese infantile gangliosideosis diagnosed by gene,enzyme activity or pathological examination were selected and a total of 56 cases were included in the study.The searching time was from the establishment of the database to February 2021,and the search keywords are"gangliosideosis","cherry-spot"macula and"Chinese".The demographic characteristics of 56 cases of children and other system manifestations were analyzed such as eyes,nervous system,skin,bones.According to the presence or absence of cherry-spot(CS)on the fundus examination,the children were divided into a fundus CS group(group A)and a fundus without CS group(group B),with 20 and 27 cases,respectively.The age of onset,gender,different types and neurological manifestations of the two groups of children were compared and analyzed.The non-parametric rank sum test was used for age comparison between groups;theχ^(2) test or Fisher's exact test were used for the comparison of gender,disease type and incidence between groups.Results Among the 56 children,27 were males and 29 were females;the median age of onset was 7.0 months.There were 33 and 23 cases of GM1 and GM2,respectively.Among 44 children with visual function examination records,41 cases(93.2%,41/44)were unable to follow the visual object.Of 47 children who underwent ocular fundus examination,20 cases(42.6%,20/47)had CS on the fundus.The main manifestations of the nervous system are neuromotor development regression or retardation(100%,56/56),convulsions(58.1
作者
彭春霞
余继锋
任晓暾
刘丽丽
崔燕辉
施维
李莉
Peng Chunxia;Yu Jifeng;Ren Xiaotun;Liu Lili;Cui Yanhui;Shi Wei;Li Li(Department of Ophthalmology,Beijing Children Hospital,Capital Medical University,National Center for Children’s Health,Beijing 100045,China;Department of Neurology,Beijing Children Hospital,Capital Medical University,National Center for Children’s Health,Beijing 100045,China)
出处
《中华眼底病杂志》
CAS
CSCD
北大核心
2021年第5期352-358,共7页
Chinese Journal of Ocular Fundus Diseases
基金
北京市医院管理中心儿科学科协同发展中心儿科专项(XTYB201809)。
关键词
泰-萨克斯病
代谢疾病
遗传变性障碍
神经系统
Tay-Sachs disease
Metabolic diseases
Heredodegenerative disorders,nervous system
