中国实用儿科杂志

中国实用儿科杂志 ›› 2025, Vol. 40 ›› Issue (10): 871-875.DOI: 10.19538/j.ek2025100615

• 病例报告 • 上一篇    下一篇

DeSanto-Shinawi 综合征伴难治性癫痫 1 例

  

  1. 郑州大学第三附属医院  a 儿科，b 检验科，河南  郑州  450052
  • 出版日期:2025-10-06 发布日期:2025-11-12
  • 通讯作者: 杜开先，电子信箱：dukaixian@126.com
  • 基金资助:
    河南省医学科技攻关计划联合共建项目（LHGJ20200431）

A case report of DeSanto-Shinawi syndrome with refractory epilepsy

  1. *Department of Pediatrics，Third Affiliated Hospital of Zhengzhou University，Zhengzhou  450052，China
  • Online:2025-10-06 Published:2025-11-12

摘要：

对1例 DeSanto-Shinawi 综合征伴药物难治性癫痫患儿的临床资料进行报道，旨在为临床医师相关疾病诊疗提供借鉴。患儿女，11岁，临床表现为难治性癫痫、智力低下和特殊面容，视频脑电图监测到局灶性癫痫发作，先后应用左乙拉西坦、托吡酯、拉考沙胺、丙戊酸钠治疗，经全外显子二代测序提示 WAC 基因新发突变（c.1801delA， p.Ile601PhefsTer5）导致蛋白截短，为移码缺失变异，目前该变异国内外均未见报道。DeSanto-Shinawi 综合征（DESSH）是 WAC 基因功能丢失性变异导致的神经发育障碍综合征，国内仅有1例伴睡眠期癫痫性电持续状态病例报道，笔者报道患儿的诊治经验可为临床提供参考。

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Abstract:

To analyze a case of DeSanto-Shinawi syndrome with refractory epilepsy diagnosed in the Third Affiliated Hospital of Zhengzhou University， aiming to provide reference for clinicians in the diagnosis and treatment of related diseases. A female patient of 11 years old presented with refractory epilepsy， intellectual disability and facial dysmophism. Video-EEG showed focal seizures. She was treated with levetiracetam， topiramate， lacosamide and sodium valproate. Whole exome sequencing revealed a de novo mutation （c．1801delA， p．Ile601PhefsTer5） of WAC gene， leading to protein truncation， which was frameshift loss variant， and it had not been reported at home or abroad. DeSanto-Shinawi syndrome （DESSH） is a neurodevelopmental disorder syndrome caused by loss-of-function mutations in WAC gene. Only one report described a patient with electrical status epilepticus during sleep （ESES） at home. This case report provided reference for the clinical diagnosis and treatment of relevant diseases.

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