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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)?
PubMed—“Beckwith Wiedemann” and “Wilms” and “Genotype”—53 articles, 4 relevant
Embase—“Beckwith Wiedemann” and “Wilms” and …
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.