Case report of 16p11.2 microdeletion only manifested as paroxysmal kinesigenic dyskinesia / 中华实用儿科临床杂志

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.