Hailu Samuel Sisay, Zewdneh Daniel, Hailu Daniel, Hailemariam Tesfahunegn
Department of Radiology, Addis Ababa University, School of Medicine, Addis Ababa, 9080 Ethiopia.
Department of Pediatrics and Child Health, Addis Ababa University, School of Medicine, Addis Ababa, Ethiopia.
Radiol Case Rep. 2023 Jun 20;18(9):2966-2970. doi: 10.1016/j.radcr.2023.06.025. eCollection 2023 Sep.
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 .
贝克威思-维德曼综合征（BWS）是一种罕见的印记紊乱和过度生长综合征，活产患病率为万分之一。其特征是易发生胚胎肿瘤，尤其是肾母细胞瘤（WT），以及出现如单侧过度生长/半侧肥大、巨舌、巨大儿、前腹壁缺损和高胰岛素血症等表现。我们的病例是一名1岁女童，表现为腹部肿胀和肢体长度差异。基于多灶性WT以及在增强腹部计算机断层扫描中检测到的肝肿大和肾肿大，结合单侧过度生长和脐疝的体格检查结果，做出了BWS的临床诊断。当时无法进行分子遗传学检测。患者开始接受术前化疗，耐受性良好。在无法进行确诊性分子检测的情况下，临床标准可用于诊断WBS。这将极大地改变对如WT等现有并发症的管理方法。
