Publication at Faculty of Medicine in Pilsen |
2013
Abstract
The autors present a case of hypoglycemic episodes in a newborn, who was suspected to suffer from a rare Beckwith-Wiedemann syndrome (BWS). Besides hypogylcemic episodes, the clinical manifestation of this syndrome includes predominantly macrosomia, macroglossia, hemihypertrophy and various manifestation of umbilical cord pathology.
The theoretical part dals not on only with clinical symptoms, but also with gnetic links of BWS as well as with the differential diagnosis of hypoglycemia in newborns.