Abstract

An infant with mosaic trisomy 13, who was small for gestational age, became severely hypoglycaemic. For the first 19 days of life, glucose requirements to maintain normoglycaemia were high (up to 21.7 mg/kg/min) and at the same time the infant had high plasma insulin levels and low glucose insulin ratios. Treatment with hydrocortisone and susphrine was of questionable benefit. Hyperinsulinism abated by the third week of life. This case illustrates early remission of hyperinsulinaemic hypoglycaemia and raises the possibility of an association with trisomy 13.