Tou Jin-Fa, Feng Ci-Yuan, Xu Bin, Ye Jing-Jing
Department of Neonatal Surgery, Children's Hospital of Zhejiang University School of Medicine, Hangzhou 310052, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2025 Aug 15;27(8):1022-1026. doi: 10.7499/j.issn.1008-8830.2502010.
This paper reports the case of a 10-month-old male infant with Beckwith-Wiedemann syndrome (BWS) who presented with a reducible right inguinal mass and an empty scrotum for 10 months and was admitted for elective surgery. Preoperative ultrasonography revealed a right adrenal mass, which was pathologically diagnosed as ganglioneuroblastoma (GNB) after surgical excision. The patient exhibited characteristic features of BWS, including omphalocele, flame-shaped nevus on the forehead, bilateral earlobe creases, and embryonal tumor. Next-generation sequencing identified a heterozygous mutation in the gene (chr11:2905365), confirming the diagnosis of BWS. Early diagnosis, standardized management, and tumor surveillance are crucial for improving prognosis in children with BWS. Ultrasonography enables early detection of tumors and informs clinical decision-making regarding intervention.
本文报告了一例10个月大的患有贝克威思-维德曼综合征（BWS）的男婴，该患儿右侧腹股沟可复性肿块及阴囊空虚10个月，因择期手术入院。术前超声检查发现右侧肾上腺肿块，手术切除后经病理诊断为神经节神经母细胞瘤（GNB）。该患者表现出BWS的特征性表现，包括脐膨出、前额火焰状痣、双侧耳垂皱折和胚胎性肿瘤。二代测序在该基因（chr11:2905365）中鉴定出一个杂合突变，证实了BWS的诊断。早期诊断、规范化管理和肿瘤监测对于改善BWS患儿的预后至关重要。超声检查能够早期发现肿瘤，并为干预的临床决策提供依据。
