Choi So Yoon, Hong Yoo-Rha, Oh Chi-Eun, Lee Jung Hyun
Departments of Pediatrics, Kosin University Gospel Hospital, Kosin University College of Medicine, Busan 49267, Republic of Korea.
Departments of Pathology, Kosin University Gospel Hospital, Busan 49267, Republic of Korea.
Children (Basel). 2024 Nov 26;11(12):1433. doi: 10.3390/children11121433.
Cornelia de Lange syndrome (CdLS) is a rare genetic disorder characterized by a distinctive facial appearance, growth/cognitive retardation, developmental delay, skeletal malformation, hypertrichosis, and other abnormalities. Patients with mild CdLS have less severe phenotypes, while retaining representative facial features. Mutations in the genes , , , , and have been associated with CdLS, with mutations in accounting for approximately 60% of cases. Herein, we present a case of CdLS accompanied by cholelithiasis and nephrolithiasis. A 9-year-old Korean boy presented with vomiting and abdominal pain. Abdominal ultrasonography revealed several gallstones and renal stones. Extracorporeal shock wave lithotripsy failed; therefore, cholecystectomy and nephrolithotomy were performed. Postoperative stone composition analysis revealed calcium oxalate as the primary component. CdLS was suspected based on the characteristic appearance and physical examination, with genetic testing confirming an gene mutation. Simultaneous CdLS, cholelithiasis, and nephrolithiasis requires careful management and treatment tailored to each patient's specific needs and challenges.
科妮莉亚·德朗格综合征（CdLS）是一种罕见的遗传性疾病，其特征为独特的面部外观、生长/认知发育迟缓、发育延迟、骨骼畸形、多毛症及其他异常。症状较轻的CdLS患者表型不那么严重，但仍保留典型的面部特征。 、 、 、 和 基因的突变与CdLS有关，其中 基因的突变约占病例的60%。在此，我们报告一例伴有胆结石和肾结石的CdLS病例。一名9岁韩国男孩出现呕吐和腹痛症状。腹部超声检查发现多个胆结石和肾结石。体外冲击波碎石术失败；因此，进行了胆囊切除术和肾结石切除术。术后结石成分分析显示草酸钙为主要成分。根据特征性外观和体格检查怀疑为CdLS，基因检测证实存在 基因突变。同时患有CdLS、胆结石和肾结石需要根据每位患者的具体需求和挑战进行仔细的管理和治疗。
