ESPE Abstracts

Background: Hyperinsulinaemic Hypoglycaemia (HH) is a rare genetic disease and the treatment of HH in cases with unresponsiveness to medical therapy is subtotal pancreatectomy. In a recent study, the authors showed that sirolimus could be an alternative treatment in these patients. We aimed to evaluate the effectiveness of sirolimus in a newborn with HH.

Case: A 10 day-old neonate presented with hyperinsulinaemic hypoglycaemia (glucose: 26 mg/dl, insulin: 55 mIU/ml). She was born at term with a birth weight of 3300 gr. Hypoglycaemia had persisted despite the administration of high intravenous (IV) glucose (perfusion rate up to 20 mg/kg/min) and diazoxide (15 mg/kg/d). Octreotide was added on postnatal 14^th day and increased to 40 mcg/kg/d. Due to the unresponsiveness to octreotide, glucagon infusion (0.01 mg/kg/h) and sirolimus (0.5 mg/m²/d) were started on postnatal 21^st day and sirolimus doses were titrated according to plasma sirolimus levels. Diazoxide and glucagon therapies were discontinued after 2 weeks of sirolimus treatment (table 1). IV hydration was stopped on 34^th day of sirolimus and she was discharged with octreotide and sirolimus on 44^th day. She is currently 5 months old and still uses sirolimus with no side effects and octreotide (10 mcg/kg/d). A novel homozygous ABBC8 mutation (p.H59P) was detected.

Conclusion: Sirolimus could be beneficial in patients with unresponsiveness to diazoxide and octreotide treatment.