Case report of PERCHING syndrome and literature review
10.3760/cma.j.cn101070-20221208-01390
- VernacularTitle:PERCHING综合征1例并文献复习
- Author:
Ruyue GONG
1
;
Xiaofeng LYU
;
Wenxiu WANG
;
Huiqing CHENG
;
Xiaofan ZHU
;
Yanchao CHENG
;
Ling JI
Author Information
1. 郑州大学第三附属医院儿内科，郑州 450052
- Keywords:
Facial nevus flammeus;
Feeding difficulties;
Contracture of joint;
Recurrent infection
- From:
Chinese Journal of Applied Clinical Pediatrics
2023;38(10):782-784
- CountryChina
- Language:Chinese
-
Abstract:
The clinical data, laboratory testing, genetic testing results, diagnosis and treatment process of a child with PERCHING syndrome diagnosed and treated in the Department of Neonatology, the Third Affiliated Hospital of Zhengzhou University in June 2022 were retrospectively analyzed, and the relevant literatures were reviewed.The proband mainly presented with dyspnea and feeding difficulties after delivery, facial nevus flammeus, protrusion of eyes, small fissure of eyes, wide nasal root, limited opening of mouth, slightly high palatal arch, special posture, cryptorchid, hypospadias, and high muscle tone of limbs.Magnetic resonance imaging of the brain suggested possible agenesis of corpus callosum.Genetic testing showed complex heterozygous variations in the KLHL7 gene, and the two mutation sites have not been previously reported.A case of PERCHING syndrome caused by the KLHL7 gene mutation in China was reported for the first time, which provided new ideas for the diagnosis and treatment of children with PERCHING syndrome and reliable genetic evidence for family reproduction.
