Beckwith–Wiedemann syndrome (BWS) is an imprinting disorder of chromosome 11p15 associated with somatic overgrowth, lateralized overgrowth (hemihypertrophy), and an increased risk of embryonal tumors.
1 This case, with clear left-sided limb hemihypertrophy and genitourinary anomalies, illustrates the importance of systematic screening, even when classical features such as macroglossia or omphalocele are absent.
Children with BWS have a 5-10% lifetime risk of malignancy, highest in the first 7 years of life.
2 The most commonly associated tumors include Wilms tumor and hepatoblastoma, making early and regular surveillance crucial.
1 Importantly, hemihypertrophy alone is an independent marker of tumor risk, and such children should follow full BWS surveillance protocols.
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Current recommendations advocate abdominal ultrasonography every 3 months until 4 years of age to screen for Wilms tumor and hepatoblastomas.
1 In this child, incidental detection of renal angiomyolipomas on ultrasound highlights the value of protocol-driven imaging rather than symptom-based evaluation. Normal or fluctuating imaging findings, as seen on follow-up, do not exclude the need for continued surveillance until 7 years of age.
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Hepatoblastoma screening with serum alpha-fetoprotein (AFP) every 3 months until 4 years of age is equally important, with emphasis on age-adjusted interpretation and trend monitoring rather than isolated values.
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Given the presence of lateralized overgrowth, regular anthropometric measurements and orthopedic assessment are required to monitor progression and functional impact.
1 Genitourinary anomalies such as hydrocele, cryptorchidism, and spermatic cord thickening warrant periodic inguinoscrotal examination and ultrasonography, mainly to exclude rare paratesticular tumors and for postoperative surveillance.
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From a teaching-file perspective, this case reinforces that clinical suspicion alone is sufficient to initiate screening. Strict adherence to surveillance protocols, multidisciplinary follow-up, and parental counseling remain central to reducing morbidity and mortality in children with Beckwith–Wiedemann syndrome.
| References : |
- Shuman C, Kalish JM, Weksberg R. Beckwith-Wiedemann syndrome. In: Adam MP, Bick S, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026 [updated 2023 Sep 21; cited 2026 Jan 8]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1394/
- Quarello P, Carli D, Biasoni D, Gerocarni Nappo S, Morosi C, Cotti R, et al. Implications of an underlying Beckwith-Wiedemann syndrome for Wilms tumor treatment strategies. Cancers (Basel). 2023;15(4):1292. doi:10.3390/cancers15041292.
- Kalish JM, Doros L, Helman LJ, Hennekam RC, Kuiper RP, Maas SM, et al. Surveillance recommendations for children with overgrowth syndromes and predisposition to Wilms tumors and hepatoblastoma. Clin Cancer Res. 2017 Jul 1;23(13):e115-e122. doi:10.1158/1078-0432.CCR-17-0710.
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