A case report of DeSanto-Shinawi syndrome with refractory epilepsy
LI Xiao
YU Sheng-yuan
LI Hao
LI Lin
CHEN Hao
GUAN Jing
LI Xiao-li
GUO Qi-liang
GAO Jin-shuang
JIA Tian-ming
DU Kai-xian
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.
Keywords：DeSanto-Shinawi syndromeWAC generefractory epilepsy
Publication Date：2025-10-06
Online Publishing Date：2025-11-24(First online date of this platform, not the publication date of the document)
Pages：5( 871-875 )