结节性硬化症误诊分析及文献复习  

Misdiagnosed Analysis of Tuberous Sclerosis and a Literature Review

作　　者：刘兰 王丽辉[1] 崔晓普[1] 王欣[1] 李宝广[1] 郑华城[1] 杨花芳[1] LIU Lan;WANG Li-hui;CUI Xiao-pu;WANG Xin;LI Bao-guang;ZHENG Hua-cheng;YANG Hua-fang(The Second Department of Neurology,Hebei Children's Hospital,Shijiazhuang 050000,China)

机构地区：[1]河北省儿童医院神经内二科,石家庄050000

出　　处：《临床误诊误治》2022年第6期30-34,共5页Clinical Misdiagnosis & Mistherapy

基　　金：河北省青年科技课题(20190133)。

摘　　要：目的分析结节性硬化症的误诊原因,并总结其疾病特点及防范措施。方法回顾性分析2017年5月—2019年5月误诊为其他疾病的4例结节性硬化症患儿的临床资料。结果3例因抽搐发作,1例因发育落后就诊。就诊前1例因皮肤色素脱失斑误诊为白癜风,1例因体检发现眼底占位性病变误诊为视网膜母细胞瘤,2例因心脏占位性病变误诊为心脏横纹肌瘤,均进行相关的治疗,效果差。然后根据临床表现、相关检查结果及基因检测,诊断为结节性硬化症。4例均给予西罗莫司及其他相应治疗。随访6个月,1例心脏横纹肌瘤消退,另1例明显缩小;3例抽搐患儿有不同程度的缓解,合并眼底占位性病变患儿无明显变化。结论结节性硬化症临床表现复杂多样,不易诊断,临床医师应提高对本病的认识,接诊时详细询问病史,仔细查体,避免误诊。Objective To analyze misdiagnosed causes of tuberous sclerosis(TS),and to summarize characteristics and preventive measures of the disease.Methods Clinical data of 4 children with TS who had been misdiagnosed as having other diseases between May 2017 and May 2019 was retrospectively analyzed.Results Three children visited doctors for convulsive seizure,and one for developmental delay.Before the diagnosis,1 child was misdiagnosed as having vitiligo due to depigmentation spots;1 was misdiagnosed as having retinoblastoma due to occupying lesions in fundus oculi by physical examination,and 2 were misdiagnosed as having cardiac rhabdomyoma due to cardiac occupying lesions.All children were given corresponding treatments,but the effects were far from satisfactory.TS was diagnosed in the 4 children according to clinical manifestations,results of related examinations and gene testing.The 4 children were treated with Sirolimus and other related treatments.After follow-up for 6 months,one child's cardiac rhabdomyoma disappeared,and the other child showed significantly decreased;convulsion conditions showed different degrees of remission in the 3 children,and there was no significant change in the child with occupying lesions in fundus oculi.Conclusion TS has complex clinical manifestations,and it is difficult to diagnose.Clinicians should enhance their understanding of this disease,and detailedly ask medical history and careful physical examinations should be carried out to avoid misdiagnosis.

关 键 词：结节性硬化症 误诊 心脏横纹肌瘤 白癜风 视网膜母细胞瘤 

分 类 号：R742.89[医药卫生—神经病学与精神病学]