Ipoglicemia neonatale, emipertrofia e macroglossia: Quale diagnosi?

Translated title of the contribution: Neonatal hypoglycaemia, hemihyperplasia, and macroglossia: Which is the correct diagnosis?

Vanna Graziani, Martina Mainetti, Andrea Zucchini, Marina Poli, Alberto Sensi, Silvia Russo, Federico Marchetti

Research output: Contribution to journalArticlepeer-review

Abstract

The paper describes the case of an infant with neonatal hypoglycaemia, hemihyperplasia, and macroglossia and the diagnostic process that leads to the confirmation of Beckwith-Wiedemann syndrome (BWS). BWS is an overgrowth disorder caused by epimutations and mutations affecting two imprinted loci on chromosome 11p15. Its clinical features are heterogeneous including macroglossia, macrosomia, hemihyperplasia, abdominal wall defects, neonatal hypoglycaemia, other minor anomalies and increased risk of embrional tumours especially during the first decade of life. In some cases with genetic mosaicism the symptoms may be poorly significant and obesity could be the only clinical manifestation. The Authors emphasize the importance of molecular studies to confirm the diagnosis and of the application of tumour surveillance protocols to improve life outcome.

Translated title of the contributionNeonatal hypoglycaemia, hemihyperplasia, and macroglossia: Which is the correct diagnosis?
Original languageItalian
Pages (from-to)44-49
Number of pages6
JournalMedico e Bambino
Volume34
Issue number1
Publication statusPublished - Jan 1 2015

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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