Back to Search
Start Over
Beckwith-Wiedemann syndrome in a child with multifocal Wilms tumor and lateralized overgrowth: A case report
- Source :
- Radiology Case Reports, Vol 18, Iss 9, Pp 2966-2970 (2023)
- Publication Year :
- 2023
- Publisher :
- Elsevier, 2023.
-
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 .
Details
- Language :
- English
- ISSN :
- 19300433
- Volume :
- 18
- Issue :
- 9
- Database :
- Directory of Open Access Journals
- Journal :
- Radiology Case Reports
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.95fe6246dea4e039652df94191dcb17
- Document Type :
- article
- Full Text :
- https://doi.org/10.1016/j.radcr.2023.06.025