Ipoglicemia neonatale, emipertrofia e macroglossia: Quale diagnosi?

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.