You are here

Article Text

Article menu
Download PDFPDF
Archimedes
Does Beckwith-Wiedemann syndrome require intensive Wilms tumour surveillance?
  1. Colin P McGrath,
  2. Michael A Boyle
  1. Neonatology, Rotunda Hospital, Dublin, Ireland
  1. Correspondence to Dr Colin P McGrath, Neonatology, Rotunda Hospital, Dublin DO1 P5W9, Ireland; colin.mc-grath{at}ucdconnect.ie

https://doi.org/10.1136/archdischild-2020-320936

Statistics from Altmetric.com

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

    Scenario

    A term boy is admitted to neonatal intensive care unit on day 1 of life for respiratory distress syndrome requiring continuous positive airway pressure. His birth weight is 3.86 kg at 37 weeks (>99.6th centile). He commences 10% dextrose exclusively on day 1. As his intravenous fluids are weaned and enteral feeds introduced, he develops persistent hypoglycaemia on day 5 of life requiring a glucose-infusion rate of 13.9 mg/kg/min. Blood glucose levels stabilise on enteral feeds by day 9 and the boy is discharged for follow-up in clinic. Macroglossia is noted on outpatient review and Beckwith-Wiedemann syndrome (BWS) is suspected. Genetic analysis confirms BWS secondary to an IC2 hypomethylation defect.

    His mother, having read online about BWS, is concerned about the risk of tumour development and frequent investigations her child is likely to need. The neonatologist reassures her that no routine imaging is required.

    Structured clinical question

    In children with BWS, is routine ultrasound surveillance necessary for detection of Wilms tumour (WT)?

    Search

    Secondary sources—nil

    Primary sources

    PubMed—“Beckwith Wiedemann” and “Wilms” and “Genotype”—53 articles, 4 relevant

    Embase—“Beckwith Wiedemann” and “Wilms” and …

    View Full Text

    Footnotes

    • Twitter @Colly_Wabbles, @mijkboyle

    • Contributors MAB came up with the idea. Both CPM and MAB attended the patient counselling session which gave rise to the clinical scenario. CPM performed the literature search and wrote the article. MAB provided critical feedback and made appropriate edits, suggesting further topics of discussion. CPM is the guarantor.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.

    Linked Articles