PERCHING综合征1例并文献复习

Case report of PERCHING syndrome and literature review

回顾性分析2022年6月郑州大学第三附属医院新生儿科收治的1例PERCHING综合征患儿的临床资料、实验室检查、基因检测结果及诊治过程,并对相关文献进行复习总结。先证者主要表现为出生后呼吸困难,喂养困难,前额鲜红斑痣,突眼,眼裂小,鼻根宽,张口受限,腭弓稍高,特殊姿势,隐睾,尿道下裂,四肢肌张力高。头颅磁共振提示胼胝体发育不良可能。基因检测结果提示KLHL7基因存在复合杂合变异,2个变异位点均未见文献报道。本例为国内首例KLHL7基因突变所致的PERCHING综合征报道,为PERCHING综合征患儿诊疗提供新思路及家庭再次生育提供可靠的遗传学证据。

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.