Neonatal hepatoblastoma in a newborn with severe phenotype of Beckwith-Wiedemann syndrome.
Eur J Pediatr
; 170(11): 1407-11, 2011 Nov.
Article
em En
| MEDLINE
| ID: mdl-21448630
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Beckwith-Wiedemann
/
Alfa-Fetoproteínas
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Hepatoblastoma
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Neoplasias Hepáticas
Tipo de estudo:
Screening_studies
Limite:
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
Eur J Pediatr
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
Itália