Percorsi clinici
Ipoglicemia neonatale, emipertrofia e macroglossia: quale diagnosi?
Neonatal hypoglycaemia, hemihyperplasia, and macroglossia: which is the correct diagnosis?
Vanna Graziani1, Martina Mainetti1, Andrea Zucchini2, Marina Poli3, Alberto Sensi4, Silvia Russo5, Federico Marchetti1
1UOC di Pediatria e Neonatologia, Ospedale di Ravenna, AUSL della Romagna
2Pediatria di Faenza; 3Pediatra di famiglia, Conselice (RA); 4UO di Genetica Medica, Cesena, AUSL della Romagna
5Istituto Auxologico Italiano, Laboratorio di Citogenetica e Genetica Molecolare, Milano
Gennaio 2015 - pagg. 44 -49
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.
Parole chiave
Classificazione MeSH
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Corrispondenza: vanna.graziani@gmail.com