以癫痫和坏死性小肠结肠炎为表现的Sotos综合征1例报告及文献复习  

Sotos syndrome with epilepsy and necrotic enterocolitis as performance:A case report and literature review

作　　者：李培[1] 黄燕茹 彭桂兰 胡恕香 王央丹 LI Pei;HUANG Yanru;PENG Guilan;HU Shuxiang;WANG Yangdan(Department of Pediatric Neurorehabilitation,Women and Children’s Hospital,Xiamen University,Xiamen 361000,China;Department of Genetic Diagnosis Center,Women and Children’s Hospital,Xiamen University,Xiamen 361000,China)

机构地区：[1]厦门大学附属妇女儿童医院儿童神经康复科,福建厦门361000 [2]厦门大学附属妇女儿童医院遗传中心实验室,福建厦门361000

出　　处：《吉林大学学报（医学版）》2023年第1期180-186,共7页Journal of Jilin University：Medicine Edition

基　　金：国家自然科学基金项目(82101955);福建省卫健委中青年骨干人才项目(2020GGB064)。

摘　　要：目的:收集1例以癫痫和坏死性小肠结肠炎为主要表现的Sotos综合征患儿的临床资料,分析该病明确诊断、抗癫痫治疗和并发症随访的重要性。方法:患儿,男,21个月。临床表现为发育迟缓和抽搐反复发作,查体发现过度生长,面容特殊。既往新生儿期有坏死性小肠结肠炎病史。结合患儿临床和遗传学资料进行诊断,分析诊疗过程,并结合相关文献进行总结。结果:结合本例患儿临床表现、辅助检查和基因检测结果诊断为Sotos综合征和癫痫。予康复治疗1年3个月后发育迟缓有所改善,继续康复随访。予左乙拉西坦单药抗癫痫治疗1月后抽搐完全控制未再发作,复查脑电图正常。患儿新生儿期出现呕吐和血便,结合腹部彩超及X线检查诊断为坏死性小肠结肠炎和结肠穿孔,予非手术保守治疗20余天后症状逐渐改善并痊愈。结论:对于临床疑似Sotos综合征的患儿,建议行基因检测明确诊断并对症治疗,积极进行康复治疗改善患儿发育迟缓,伴癫痫发作者应积极合理使用抗癫痫药物治疗。新生儿期坏死小肠结肠炎为Sotos综合征中首次发现的临床表现,可为该综合征基因型与表型关系的研究提供参考。Objective:To collect the clinical data of a Sotos syndrome patient with epilepsy and necrotic enterocolitis as performance,and to analyze the importance of diagnosis,antiepileptic therapy and complication follow-up of this disease.Methods:The male patient was 21 months of age.The clinical manifestion of the patient was developmental delay and recurrent seizures,and the physical examination of patient showed excessive growth and special face.The patient had a previous history of necrotizing enterocolitis in the neonatal period.Combined with the clinical and genetic data of the patient,the etiology was confirmed and the characteristics of diagnosis and treatment were analyzed,and the relevant literatures were reviewed and summarized.Results:Combined with the clinical features,auxiliary examination and genetic testing,the patient was diagnosed as Sotos syndrome and epilepsy.After 1 year and 3 months of rehabilitation,the developmental delay of the patient was improved and the rehabilitation was continued and the patient was followed-up;after 1 month of levetiracetam monotherapy,the seizure was completely controlled;there were no more seizures,and the reexamination electroencephalogram was normal.The patient appeared vomiting and bloody stools during the neonatal period,and was diagnosed as necrotic enterocolitis and colonic perforation combined with abdominal ultrasound and X-ray.After more than 20 d of non-operative conservative treatment,the symptoms of patient were gradually improved and the patient recovered.Conclusion:In clinical practice,genetic testing is recommended for the patients with suspected Sotos syndrome to confirm diagnosis and symptomatic treatment.Active rehabilitation therapy is recommended to improve the developmental delay of the patient;epileptic seizures in the patients with Sotos syndrome should be actively treated with antiepileptic drugs.Neonatal necrotic enterocolitis is the first case of this syndrome,which may provide reference and treatment experience for the study of the relationship

关 键 词：Sotos综合征 癫痫 坏死性小肠结肠炎 基因检测 

分 类 号：R729[医药卫生—儿科]