A Case of Beckwith-Wiedemann Syndrome that Could be Diagnosed by Antenatal Care / 대한주산의학회잡지

ABSTRACT

Beckwith-Wiedemann syndrome(BWS) is a group of disorders having in common coexistence of a macrosomia, macroglossia, abdominal wall defects, visceromegaly, hypoglycemia in the neonatal period and embryonal cancers of infancy and early childhood. Beckwith-Wiedemann first reported this distinct clinical entity, and about 200cases have subsequently been reported. Etiology is usually sporadic. BWS is a multigenic disorder with dysregulation of the expression of imprinted genes involved in growth and cell cycle control in the 11p15.5 chromosomal region. Placental endocrine dysfunction leading to increased levels of growth hormone and insulin-like growth factors would causes the visceromegaly. Early visceromegaly may pedispose to omphalocele, malrotation anomalies, and diaphragmatic herniation. Detection and treatment of hypoglycemia in any neonate with features of this syndrome are critical. The frequency of hypoglycemia in this population is between 30 and 50%. The majority of infants with hypoglycemia will be asymptomatic and have resolution of the hypoglycemia within the first 3 days of life. Less than 5% of infoots will have hypoglycemia beyound neonatal period one requive either continous feeding or a partial pancreatectomy. We have experienced and case of Beckwith-Wiedemann syndrome so that we report with brief review of the concerned literature.