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 14th 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 21st 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 34th day of sirolimus and she was discharged with octreotide and sirolimus on 44th 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.
|5. day||11. day||16. day||19. day||24. day||30. day||34. day||44. day||77. day|
|Sirolimus level (4.528 μg/l)||3.1||20||10||4,6||10.9||8||7.7||9.9||11.9|
|Sirolimus dose (mg/m2/d)||0.5||1||1||1||1.6||1.6||2.3||3||2.4|
|Octreotide dose (μg/kg/d)||40||40||40||40||stop||40||40||40||25|
|Diazoxide dose (mg/kg/d)||15||5||stop|
Conclusion: Sirolimus could be beneficial in patients with unresponsiveness to diazoxide and octreotide treatment.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology