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 .
Keywords: Beckwith-Wiedemann syndrome; Hemihypertrophy; Visceromegaly; Wilms Tumor.
© 2023 The Authors. Published by Elsevier Inc. on behalf of University of Washington.