Neonatal hepatoblastoma in a newborn with severe phenotype of Beckwith–Wiedemann syndrome
- نوع فایل : کتاب
- زبان : انگلیسی
- مؤلف : Alessandro Mussa & Giovanni Battista Ferrero & Barbara Ceoloni & Eleonora Basso & Nicoletta Chiesa & Agostina De Crescenzo & Ernesto Pepe & Margherit
- چاپ و سال / کشور: 2011
Description
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 alphafetoprotein (لFP) 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 لFP 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 severeBWS phenotype.We suggest monitoring neonatal لFP every 20 days in such cases.
Eur J Pediatr DOI 10.1007/s00431-011-1455-0 Received: 17 November 2010 / Accepted: 14 March 2011
