OBJECTIVE: We describe two unrelated females born large for gestational age found to have clinical features consistent with BWS, who developed severe
hypoglycemia. Genetic diagnosis of BWS was confirmed. The first patient was born at 37 weeks and developed
hypoglycemia shortly after birth. She was initially started on
diazoxide but developed pulmonary congestion and was therefore switched to depot
octreotide (LAR). She maintained euglycemia with LAR. In the second patient (born at 26-4/7 weeks), onset of
hypoglycemia was delayed till 11 weeks of age due to
hydrocortisone (indicated hemodynamically) and continuous feeding, and was partially responsive to
diazoxide. She was switched to
octreotide 4 times daily, treated till at age 18 months. Despite frequent feeds, she required treatment again between ages 4-6.5 years, initially with
diazoxide but due to severe
hypertrichosis she was switched to LAR with an excellent response. Both patients treated with LAR for over two years achieved euglycemia above 70 mg/dl and had normal height gain, without side effects.
CONCLUSION: