| 摘要: |
| 目的：总结1例新生儿过度惊吓反应征的临床诊疗及遗传学特点，提高对该病的认识。方法：对2019年7月就诊于我院的1例过度惊吓反应征患儿临床诊疗、随访过程进行总结，并在CNKI、PubMed及万方数据库等检索查询时限建库起至2020年2月，对国内外过度惊吓反应征伴GLRA基因突变病例进行总结分析。结果：患儿，男，因“生后肌张力增高，哭声尖锐、单调、伴惊跳”收治，症状每日持续存在。查体见点鼻试验阳性，肌张力增高；实验室检查、脑电图及神经影像学检查均无明显异常，诊断过度惊吓反应征，基因分析回报GLRA1基因变异，患儿为新发变异。予口服氯硝西泮治疗，经治疗2周后患儿上述症状缓解。末次随访年龄为7月余，哭声同正常同龄儿童，未再出现惊跳及全身僵硬症状，生长发育同正常同龄儿。结论：点鼻试验阳性对过度惊吓反应征初筛重要，基因检测可用于进一步确诊 |
| 关键词: 过度惊吓反应征 新生儿 突变 基因 GLRA 氯硝西泮 |
| DOI：10.13407/j.cnki.jpp.1672-108X.2022.07.012 |
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| 基金项目: |
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| Clonazepam in the Treatment of a Case of Hyperekplexia Induced by GLRA Gene Mutation |
| Lin Ping, Lin Maozeng, Lu Weiwei, Teng Fei, Qian Xiaorong, Cai Shaohua |
| (909 Hospital of Joint Service Support Force of Chinese People’s Liberation Army/Southeast Hospital Affiliated to Xiamen University, Fujian Zhangzhou 363000, China) |
| Abstract: |
| Objective: To summarize the clinical diagnosis, treatment and genetic characteristics of a case of neonatal hyperekplexia and improve the understanding of the disease. Methods: The clinical diagnosis, treatment and follow-up process of a child with hyperekplexia admitted into our hospital in Jul. 2019 were summarized. From CNKI, PubMed and Wanfang database, the retrieval time was from the establishment of the database to Feb. 2020, and the cases of hyperekplexia with GLRA gene mutation at home and abroad were summarized and analyzed. Results: A newborn boy was admitted for “postnatal increased muscle tone, sharp and monotonous cry, accompanied by startle”, and the symptoms persisted nearly every day. Physical examination revealed positive dot nose test and increased muscle tone. Laboratory examination, electroencephalography and neuroimaging examination showed no obvious abnormalities, and the diagnosis of hyperekplexia was made. Genetic analysis revealed GLRA1 gene mutation, and the child was a new mutation. The child was treated with oral clonazepam, and the above symptoms were relieved after 2 weeks of treatment. At the last follow-up, the child was over 7 months of age and cried like the normal child of the same age, and did not show any signs of startle or general stiffness. Conclusion: Positive dot nose test is important for initial screening of hyperekplexia, and genetic testing can be used for further confirmation. |
| Key words: hyperekplexia neonates mutation gene GLRA clonazepam |
