Department of Urology, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Department of Ultrasound, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Front Endocrinol (Lausanne). 2022 Aug 25;13:886235. doi: 10.3389/fendo.2022.886235. eCollection 2022.
Cornelia de Lange syndrome (CdLS) is a rare genetic disease involving multiorgan systems that varies in clinical manifestations. Female genital abnormalities in patients with CdLS are rarely reported, and current guidelines for CdLS contain little information related to female genital abnormalities. We report a case of classic CdLS with an gene pathogenic variant in a 4.5-year-old girl who experienced recurrent urinary tract infections (UTIs) with vesical tenesmus. Urogenital physical and imaging examinations revealed external vaginal orifice obstruction and bilateral vesicoureteral reflux (VUR). Vaginal diaphragm-like tissue resection and vaginal orifice plasty were performed on this patient. The symptoms of urination disorders and recurrent UTIs, as well as VUR grading, improved after relieving the vaginal obstruction during the operation. For female CdLS patients, especially those with VUR, it is necessary to check for genital abnormalities and perform timely treatment, which is of great significance in improving urination disorder symptoms, reducing resistance during voiding, decreasing the occurrence of secondary VUR, and controlling recurrent UTIs.
康氏综合征（CdLS）是一种罕见的多系统受累的遗传性疾病，临床表现多样。康氏综合征患者的女性生殖器异常很少被报道，目前关于 CdLS 的指南中几乎没有与女性生殖器异常相关的信息。我们报告了一例 4.5 岁的经典 CdLS 患儿，该患儿因反复出现膀胱痉挛性疼痛的尿路感染（UTIs）而就诊。泌尿生殖系统的体格检查和影像学检查发现外阴阴道口梗阻和双侧输尿管反流（VUR）。对该患者进行了阴道膈样组织切除术和阴道口成形术。术中解除阴道梗阻后，排尿障碍和反复尿路感染以及 VUR 分级的症状均得到改善。对于女性 CdLS 患者，尤其是有 VUR 的患者，有必要检查生殖器异常并及时进行治疗，这对于改善排尿障碍症状、减少排尿时的阻力、减少继发性 VUR 的发生以及控制反复尿路感染具有重要意义。
