A case report of Beckwith-Wiedemann syndrome

Beckwith and Wiedemann for the first time described a syndrome characterized by macroglossia, macrosomia and omphalocele. Nowadays in addition to the above symptoms, visceromegaly, mild microcephaly, facial nevus flammeus, earlobe crease, persistent neonatal hypoglycemia, and polycythemia are also considered various manifestations of Beckwith-Wiedemann syndrome. This study reports a female neonate with macrosomia, macroglossia, earlobe crease, exomphalus, infraorbital crease, facial nevus flammeus, persistent hypoglycemia and polycythemia. The patient was first treated for hypoglycemia. Two days later she was lethargic and had convulsions. The patient was suspected to have septicemia and was treated with antibiotic. Laboratory findings include hypoglycemia, and cultures results were positive for E.coli in CSF, blood and ophthalmal discharge. Eventually the patient died due to gram-negative septicemia.