Introduction: Congenital Hyperinsulinemic hypolglycemia (CHI) is a rare genetic disorder resulting severe hypoglycaemia secondary to excessive insulin release from the pancreatic cells. Its early diagnosis is imperative to prevent irreversible brain damage by hypoglycemia. Genetic testing and 18-F-DOPA scan help to confirm the diagnosis.
Case: A 2.7 kg male baby was born at term to non-consanguineous parents by normal vaginal delivery. On day 4 of life the child was excessively lethargic for which was taken to a hospital, where he was detected to have blood sugar of 40 mg/dl. On day 6 of life the baby had seizures and was taken to the emergency where he was diagnosed to have hypoglycemia without any ketonuria. The critical blood sample taken at a time of hypoglycemia revealed C-peptide 2.72 ng/ml, blood sugar 22 mg/dl, serum insulin 13.3 uU/ml, with thyroid, cortisol and growth hormone being in normal range. He was started on oral diazoxide at 10 mg/kg/day and escalated to 15 mg/kg/day. The child was started on injectable subcutaneous octreotide at a dose of 2 ugm/kg and increased to 4 ugm/kg. Oral diazoxide was slowly tapered and stopped. a genetic study was done which showed that the child was heterozygous for the ABCC8 mutation missense variant., p.(Gly 111Arg). The father heterozygous for ABCC8 variant and the mother did not have any genetic mutations.
Conclusion: We report the first heterozygous, paternally inherited ABCC8 missense mutation with focal pancreatic lesion from India. This mutation has been reported to present mostly with diffuse pancreatic lesions, requiring surgery.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology