Neonatal hepatoblastoma in a newborn with severe phenotype of Beckwith–Wiedemann syndrome
- 30 March 2011
- journal article
- case report
- Published by Springer Science and Business Media LLC in European Journal of Pediatrics
- Vol. 170 (11), 1407-1411
- https://doi.org/10.1007/s00431-011-1455-0
Abstract
Beckwith–Wiedemann syndrome is an overgrowth disorder characterized by neonatal macrosomia, abdominal wall defects, macroglossia, renal anomalies, organomegaly, hypoglycemia, and cancer predisposition. Hepatoblastoma is the second most frequent tumor and periodic serum alpha-fetoprotein (αFP) dosage is the cornerstone of the tumor surveillance for its early detection. In this report, we describe the outstanding case of a Beckwith–Wiedemann syndrome (BWS) newborn with severe phenotype and paternal chromosome 11 uniparental disomy (UPD11) associated with a high tumor risk. Based on the clinical picture and previous reports, a close monitoring of αFP was commenced. The marker was normal immediately after birth, but rapidly raised in 20 days, leading to the diagnosis of an extremely aggressive hepatoblastoma. The latter was successfully treated with pre-surgical reductive chemotherapy, gross total mass resection, and subsequent chemotherapy. Based on this observation, the tumor surveillance routinely suggested every 3 months should be more intense and with closer time intervals in newborns with severe BWS phenotype. We suggest monitoring neonatal αFP every 20 days in such cases.Keywords
This publication has 21 references indexed in Scilit:
- Beckwith–Wiedemann syndromeEuropean Journal of Human Genetics, 2009
- Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasiaGenetics in Medicine, 2009
- Severe presentation of Beckwith–Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15American Journal of Medical Genetics Part A, 2007
- Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms' tumourHuman Molecular Genetics, 2006
- Risk of tumorigenesis in overgrowth syndromes: A comprehensive reviewSeminars in Medical Genetics, Part C of the American Journal of Medical Genetics, 2005
- Tumor risk in Beckwith–Wiedemann syndrome: A review and meta‐analysisAmerican Journal of Medical Genetics Part A, 2005
- Epigenotyping as a tool for the prediction of tumor risk and tumor type in patients with Beckwith-Wiedemann syndrome (BWS)The Journal of Pediatrics, 2004
- Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndromeNature Genetics, 2004
- Serum α-fetoprotein screening for hepatoblastoma in children with Beckwith-Wiedemann syndrome or isolated hemihyperplasiaThe Journal of Pediatrics, 2003
- Hyperinsulinism and Beckwith-Wiedemann syndromeArchives of Disease in Childhood: Fetal & Neonatal, 2001