强直性肌营养不良1型患儿误诊为自闭症谱系障碍临床分析  

Clinical Analysis of a Child with Myotonic Dystrophy Type 1 Misdiagnosed as Autism Spectrum Disorder

作　　者：吕少广 刘芳 赵会懂 许剑峰 LV Shaoguang;LIU Fang;ZHAO Huidong;XU Jianfeng(Department of Pediatrics,the 980th Hospital of Joint Service Support Force of the People's Liberation Army,Shijiazhuang 050082,China;Department of Medical Information and Data,,the 980th Hospital of Joint Service Support Force of the People's Liberation Army,Shijiazhuang 050082,China;Department of Quality Control,the 980th Hospital of Joint Service Support Force of the People's Liberation Army,Shijiazhuang 050082,China)

机构地区：[1]解放军联勤保障部队第九八〇医院新生儿科,石家庄050082 [2]解放军联勤保障部队第九八〇医院医学信息数据室,石家庄050082 [3]解放军联勤保障部队第九八〇医院质量管理科,石家庄050082

出　　处：《临床误诊误治》2025年第8期13-17,共5页Clinical Misdiagnosis & Mistherapy

基　　金：河北省重点研发计划项目(182777128D)。

摘　　要：目的总结强直性肌营养不良1型(DM1)误诊为自闭症谱系障碍(ASD)的原因及防范措施。方法回顾分析2021年5月收治的DM1误诊为ASD患儿1例的临床资料。结果患儿,女,母孕期胎动少,出生后有倒V形上唇特殊面容及大运动发育迟缓、活动无耐力、寡言、不喜与人交谈,外院诊断为自闭症,予间断康复治疗,但效果不佳。就诊我院后门诊查血尿便常规正常,肝肾功能正常,甲状腺功能、46种遗传代谢病血串联质谱、尿气象色谱筛查、染色体核型分析、心脏彩超均正常。多重连接依赖式探针扩增法+甲基化检测查Prader-Willi综合征、脊肌萎缩症阴性。后经基因检测支持DM1诊断。误诊时间1年。予康复训练治疗3年余,现患儿6岁,预后尚可。结论DM1患者临床表现多样,可出现行为异常、社交退缩等类似ASD的症状,若接诊医生对该病认知不足,易误诊。加强临床医生对DM1的认识,仔细询问病史,开拓诊断思维,及早行基因检测,可减少或避免DM1早期误诊。Objective To summarize the causes and preventive measures of myotonic dystrophy type 1(DM1)misdiagnosed as autism spectrum disorder(ASD).Methods The clinical data of a child with DM1 misdiagnosed as ASD in May 2021 were retrospectively analyzed.Results The girl,whose mother had minimal fetal movement during pregnancy,developed a special facial feature with an inverted V-shaped upper lip after birth,delayed major motor development,activity intolerance,lack of speech,and reluctance to talk to others.She was diagnosed with autism in another hospital and received intermittent rehabilitation therapy,but the effect was not satisfactory.The routine examination of blood,urine and stool,liver and kidney function,thyroid function,46 kinds of inherited metabolic diseases,blood tandem mass spectrometry,urine meteorological chromatography,chromosome karyotype analysis and heart color Doppler ultrasound were all normal.Multiplex ligation-dependent probe amplification(MLPA)+methylation test was negative for Prader-Willi syndrome and spinal muscular atrophy.Genetic testing supported the diagnosis of DM1.The misdiagnosis lasted 1 year.After rehabilitation training for more than 3 years,the boy is now 6 years old with a good prognosis.Conclusion DM1 patients have various clinical manifestations,such as behavior disorder,social withdrawal and other ASD-like symptoms.It is prone to misdiagnosis if the doctor has insufficient knowledge of the disease.Early misdiagnosis of DM1 can be reduced or avoided by strengthening clinicians'understanding of DM1,taking medical history carefully,developing diagnostic thinking,and conducting genetic testing as early as possible.

关 键 词：强直性肌营养不良 误诊 自闭症谱系障碍 基因检测 鉴别诊断 

分 类 号：R746.2[医药卫生—神经病学与精神病学]