Azhar Kurniawan H, Ema Alasiry, A. Dwi Bahagia F
Background: Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome associated with macrosomia, macroglossia, abdominal wall defects, hypoglycemia in the neonatal period and embryonal cancers of infancy and early childhood. Estimated incidence rate of BWS is 1 in 13,700 in population. Patient diagnosis based on three major features (macrosomia, macroglossia, hypoglycemia, abdominal wall defect) or two major features with one or more minor features (Cardiomegaly, renal malformation, ear creases/pits, facial naevus flammeus). BWS is a multigenetic disorder caused by dysregulation of gene expression in the imprinted 11p15 chromosomal region. The majority of infants with hypoglycemia will be asymptomatic and have resolution of the hypoglycemia within the first 3 days of life. Objective: To report a case of Beckwith-Wiedemann syndrome (BWS). Case. A 3 days’ male infant was referred from hospital recurrent hypoglycemia since 1 hours after birth. Patient was delivered sectio caesarea with congenital malformations macroglossia and rocker bottom feet. He had frequent episodes of hypoglycemia. The chest radiograph shows cardiomegaly, MSCT whole abdomen with contrast shows bilateral hydronephrosis, Echocardiography shows atrial septal defect. Conclusion: Beckwith-Wiedemann syndrome is a rare type of chromosome disorder. Patient diagnosis based on clinical criteria, macrosomia, macroglossia, renal anomaly, hypoglycemia, cardiomegaly. After treatment of hypoglycemia with steroids the patient's condition improved. Hypoglycemia in a majority of cases is asymptomatic and will respond to frequent feeding. If blood glucose does not normalize with intravenous dextrose, a number of agents which reduce the excess insulin secretion such as glucocorticoids, glucagon and diazoxide have been employed.