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

doi:10.13481/j.1671-587X.20230123

Abstract

Abstract:

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 between genotype and phenotype of this syndrome.

Key words: Sotos syndrome, Epilepsy, Necrotic enterocolitis, Gene test

CLC Number:

R729

Pei LI,Yanru HUANG,Guilan PENG,Shuxiang HU,Yangdan WANG. Sotos syndrome with epilepsy and necrotic enterocolitis as performance:A case report and literature review[J].Journal of Jilin University(Medicine Edition), 2023, 49(1): 180-186.

Figures/Tables 4

References 29

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

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