PDF(Pubmed)
Abstract：
Beckwith-Wiedemann syndrome (BWS) is a rare imprinting disorder and overgrowth syndrome with a prevalence of 1 in 10,000 live births. It is characterized by predilection for embryonal tumor growth, especially Wilms tumor (WT), and manifestations like lateralized overgrowth/hemihypertrophy, macroglossia, macrosomia, anterior abdominal wall defects, and hyperinsulinism. Our case is a 1 year of female child who presented with abdominal swelling and limb length discrepancies. A clinical diagnosis of BWS was made based on multifocal WT and hepatomegaly and nephromegaly detected on contrast-enhanced abdominal computed tomography and physical examination findings of lateralized overgrowth and umbilical hernia. A molecular genetic test was not available. The patient was started on preoperative chemotherapy with good tolerance. Clinical criteria can be used to diagnose WBS in a setting where confirmatory molecular testing is unavailable. This will considerably change approaches to management of presenting complications such as WT .
摘要：
Beckwith-Wiedemann综合征（BWS）是一种罕见的印记障碍和过度生长综合征，患病率为10,000例活产婴儿中的1例。它的特点是胚胎肿瘤生长的倾向，尤其是Wilms肿瘤（WT），和表现如侧向过度生长/半肥大，巨舌,巨大儿,前腹壁缺损,和高胰岛素血症。我们的病例是1年的女性儿童，表现为腹部肿胀和肢体长度差异。BWS的临床诊断是基于多灶性WT以及在对比增强腹部计算机断层扫描中检测到的肝肿大和肾肿大，以及侧向过度生长和脐疝的体格检查结果。分子遗传测试不可用。患者开始术前化疗，耐受性良好。临床标准可用于在无法进行确认性分子测试的情况下诊断WBS。这将大大改变诸如WT之类的并发症的管理方法。
