UNEXPLAINED HYPOGLYCEMIA IN BECKWITH-WEIDSMANN SYNDROME WITH BLUNTED GROWTH HORMONE RESPONSE

Abstract

We report a 34 week female infant, birth weight=3.7 Kg, length=49.5 cm with macroglossia, microcephaly, diastasis recti, pulmonic stenosis, visceromegaly, abnormal ear crease and multiple other problems including increased direct bilirubin and liver function tests. Severe hypoglycemia developed when weaned from parenteral nutrition at 6 weeks of age. Initial studies revealed growth hormone (GH)=7.7 ng/ml, cortisol (C)=9.7 mcg/ml, insulin (I)=2.1 mcU/ml when blood glucose (BG) = 21 ms/dl. Euglyccmia was maintained by continuous gastric feeding. Subsequent fasting showed GH=1.1, I <2.5, C=19.4, IGF I <0.6 U/ml, IGF II=532 ng/ml, C-peptide=1.1 ng/ml when BG=35. IV glucagon increased BG to 52. Therapy with GH (1 U IM QD) did not ameliorate hypoglycemia. Repeat glucagon stimulation on GH therapy demonstrated maximum I= 10 mcU/ml 1 minute after infusion and maximum GH= 3.7. Liver biopsy was negative for glycogen storage disease. Brain HRI and chromosomes were normal. Hyporbilirubinenia resolved during GH therapy. One week post GH therapy an argininc infusion test revealed: The reason for the hypoglycemia is unclear. Hyperinsulinemia or abnormal IGF I and II were not demonstrated. GH therapy was unsuccessful. Factors other than insulin, growth hormone and the known IGF's appear to play an important part in the macrosomia and hypoglycemia seen in this infant.