Beckwith-Wiedemann syndrome: role of ultrasound in its management

Abstract

There is a well-recognised association between Beckwith-Wiedemann syndrome (BWS), hemi-hypertrophy of a limb and childhood malignancies. Ten children with BWS were seen over a period of 14 years. Their ages ranged from newborn to 14 years and the maximum follow-up extended to 14 years. Three children also had hemi-hypertrophy of the lower limb. In one child Wilms' tumour was diagnosed at the age of 4 years; she was successfully treated with surgery and chemotherapy and has been disease-free for the past 7 years. One patient died in infancy, while the remaining nine children were regularly followed up, including 3-monthly ultrasound scans of the kidneys and upper abdomen. Ultrasonic features of nephromegaly, lobulated margin, corticomedullary cysts and nodules of mixed echogeneity and pelvi-calyceal distension are illustrated. Ultrasound is a non-invasive, non-ionising and safe modality with very little discomfort to the patient and is ideal for regular and frequent follow-up of infants and children with conditions predisposed to malignancy.