Paediatric Follow Up Recommendations.
Hemi-Hypertrophy.
Beckwith-Wiedemann Syndrome.2
Diagnosis
Based on Major and Minor findings, though Genetic testing for epigenetic or genomic alterations on chromosome 11p15.5
Major findings include:
- Macroglossia
- Macrosomia
- Hemihyperplasia
- Visceromegaly >= 1 intra-abdominal organ
- Renal abnormalities
- Embryonal tumour in childhood.
- Inter alia
Need >=3 Major or 2 Major and 1 Minor.
Surveillance
- aFP every 2-3 months til 4 for hepatoblastoma
- US abdomen every 3-4 months til age 8y for tumour surveillance and renal abnormalities.
- Abd US annually from 8 to mid adolescence for renal abnormalities.
BUT Great Ormond Street Guidance (2017)
Some children with BWS are at increased risk of Wilms' tumour of the kidney. Wilms' tumour usually occurs in young children under the age of five years. It is very well treated and is cured in around 90 per cent of children. Wilms' tumour has never been reported in children with BWS caused by KvDMR hypomethylation. This is the commonest cause of BWS. Thousands of children with KvDMR hypomethylation have now been followed up and it is clear that they do not need Wilms' tumour surveillance.
For all other children with BWS, we recommend kidney ultrasound scans every three to four months until the age of seven years. Tumours other than Wilms' tumour are uncommon in BWS. As they are uncommon and because there are no reliable screening tools, we do not recommend specific surveillance other than for Wilms' tumour. 1
So, Only US kidneys every 3 months to 7y old.
And, not in those who are KvDMR hypomethylated = 50%.