42例儿童结节性硬化症的临床特征及眼底表现  

Clinical features and fundus manifestations of 42 children with tuberous sclerosis

作　　者：孙莉 郝迪 蔡文茜 尹瑞瑞 Sun Li;Hao Di;Cai Wen-qian(Department of Ophthalmology,Xuzhou Children’s Hospital,Xuzhou Medical University,Xuzhou 221006,China)

机构地区：[1]徐州医科大学附属徐州儿童医院眼科,221006 [2]徐州医科大学附属徐州儿童医院皮肤科,221006

出　　处：《中国斜视与小儿眼科杂志》2022年第2期7-9,I0012,共4页Chinese Journal of Strabismus & Pediatric Ophthalmology

摘　　要：目的探讨儿童结节性硬化症(tuberous sclerosis complex,TSC)的临床特征及眼底表现。方法回顾性分析42例儿童TSC患者临床资料,包括临床照片、门诊及住院病历、眼底照相、基因检测资料等。结果42例患儿,男22例,女20例,就诊年龄1月~11岁7月,平均年龄3.4岁。42例均有皮肤改变,以多发性色素脱失斑最多见;41例影像学检查阳性,39例表现为癫痫;眼底检查发现31例视网膜错构瘤、1例视网膜色素脱失斑;3例基因检测结果为TSC2突变。结论儿童TSC视网膜错构瘤的发病率较成人高,眼底检查对早期TSC的诊断有重要意义。Objective To investigate the clinical features and fundus manifestations of children with tuberous sclerosis.Methods The clinical data of 42 children with TSC were analyzed retrospectively,including clinical photos,outpatient and inpatient medical records,fundus photography,gene detection data and so on.Results There were 22 males and 20 females.The age ranged from 1 month to 11 years and 7 months,with an average age of 3.4 years.42 children had skin changes,most of which were multiple depigmentation spots;41 cases were positive in imaging examination,and 39 cases showed epilepsy;There were 31 cases of retinal hamartoma and 1 case of retinal pigment depigmentation spot in fundus examination;There were 3 TSC2 gene mutation in 42 patients.Conclusion The incidence of retinal hamartoma in children with TSC is higher than in adults.Fundus examination is important for early diagnosis of TSC.

关 键 词：结节性硬化症 视网膜错构瘤 眼底检查 儿童 

分 类 号：R725.9[医药卫生—儿科] R771.3[医药卫生—临床医学]