Beckwith–Wiedemann syndrome is a rare genetic condition with autosomal dominant inheritance. Clinical manifestations include macrosomia, visceromegaly, neonatal hypoglycemia, macroglossia, exomphalos, congenital reno-urinary anomalies and high incidence of associated malignant tumors. Although is a rare syndrome, the early diagnosis is very important, considering that neonatal hypoglycemia could have severe complications, even death, without appropriate treatment. We report a case of an infant treated in our clinic, with Beckwith Wiedemann syndrome, whose imagistic investigations revealed a severe congenital renourinary tract anomaly. Considering the higher incidence of malignant renal tumors in these patients, the surgical procedure to resolve the renal anomaly should be selected carefully. The prognosis is worsened by possible complications which can occur during general anesthesia due to macroglossia.
Keywords: Beckwith‒Wiedmann, macroglossia, reno-urinary malformation