[beck - wiedemann综合征合并神经节神经母细胞瘤1例]。

Q3 Medicine

中国当代儿科杂志 Pub Date : 2025-08-15 DOI:10.7499/j.issn.1008-8830.2502010

Jin-Fa Tou, Ci-Yuan Feng, Bin Xu, Jing-Jing Ye

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引用次数: 0

摘要

本文报告一例10个月大的男婴贝克威氏综合征（BWS），其表现为右侧腹股沟肿块可缩小，阴囊空10个月，并接受择期手术。术前超声检查显示右侧肾上腺肿块，手术切除后病理诊断为神经节神经母细胞瘤。患者表现出BWS的特征性特征，包括脐膨出、前额火焰状痣、双侧耳垂皱痕和胚胎性肿瘤。新一代测序鉴定出CDKN1C基因的杂合突变（chr11:2905365），证实了BWS的诊断。早期诊断、规范化管理和肿瘤监测是改善BWS患儿预后的关键。超声检查可以早期发现肿瘤，并告知有关干预的临床决策。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

[Beckwith-Wiedemann syndrome with ganglioneuroblastoma: a case report].

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 CDKN1C 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.

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来源期刊

中国当代儿科杂志 Medicine-Pediatrics, Perinatology and Child Health

CiteScore

1.50

自引率

0.00%

发文量

5006

期刊介绍： The Chinese Journal of Contemporary Pediatrics (CJCP) is a peer-reviewed open access periodical in the field of pediatrics that is sponsored by the Central South University/Xiangya Hospital of Central South University and under the auspices of the Ministry of Education of China. It is cited as a source in the scientific and technological papers of Chinese journals, the Chinese Science Citation Database (CSCD), and is one of the core Chinese periodicals in the Peking University Library. CJCP has been indexed by MEDLINE/PubMed/PMC of the American National Library, American Chemical Abstracts (CA), Holland Medical Abstracts (EM), Western Pacific Region Index Medicus (WPRIM), Scopus and EBSCO. It is a monthly periodical published on the 15th of every month, and is distributed both at home and overseas. The Chinese series publication number is CN 43-1301/R；ISSN 1008-8830. The tenet of CJCP is to “reflect the latest advances and be open to the world”. The periodical reports the most recent advances in the contemporary pediatric field. The majority of the readership is pediatric doctors and researchers.