Case report of 16p11.2 microdeletion only manifested as paroxysmal kinesigenic dyskinesia

VernacularTitle:16p11.2微缺失仅表现发作性运动诱发性运动障碍1例
Author: Zhihong ZHUO ; Yao WANG ; Wenhao YAN ; Xiaoli XU ; Peina JIN ; Xiao FANG ; Huaili WANG
From: Chinese Journal of Applied Clinical Pediatrics 2021;36(7):548-550
CountryChina
Language:Chinese
Abstract: The clinical data of a child with paroxysmal kinesigenic dyskinesia (PKD) and being diagnosed and treated in the Department of Pediatrics of the First Affiliated Hospital of Zhengzhou University in October 2018 were analyzed retrospectively.The male patient was 13 years old.The clinical manifestation was the change of body position, and the temporary movement cannot appear.The manifestations included the turning of head to one side, the falling back of neck, head shaking, swinging, the tightly hugging of hands in front of the chest, the touching of two tiptoes to the ground, numb sole, and ache.Gene detection: chromosome 16p11.2 (chr16: 29594293-30189789) had about 595.5 kb heterozygosity deletion.A total of 8 cases of 16p11.2 microdeletion in children with PKD were reported in details.16p11.2 microdeletion is another form of gene expression that causes PKD.16p11.2 microdeletion should be screened for genetic evaluation in patients with PKD.