Neonatal hyperinsulinism with an ABCC8 mutation: A case report

Table 1 Timeline

Time	Incidents
8 yr ago	The patient’s mother was diagnosed gestational diabetes (controlled with diet) during her first gestation, and deliver a girl with a birth weight of 4000 g, who presented severe hypoglycemia with brain damage after birth
At the mother’s 25th wk of gestation	The mother was diagnosed with pregestational diabetes mellitus and was treated by insulin
20 min after birth	The patient was diagnosed mild asphyxia, with an APGAR score of 7/10/10, and was brought to the neonatal intensive care unit
2 h after birth	The infant presented intractable hypoglycemia and hyperinsulinism
During hospitalization	He was initially treated with glucose and hydrocortisone infusion. Next, he was treated with octreotide and glucagon. whole-exome sequencing was performed because the upper treatments are ineffective. Thus, he was treated with diazoxide, which was effective
25 d after birth	The patient was discharged from the hospital and continued to take diazoxide orally, and the medication was tapered off
30 d after birth	The whole-exome sequencing identified a missense heterozygous mutation in the ABCC8
Now	The patient’s blood glucose level is average, and his growth and development are acceptable. His mother’s fasting glucose level is impaired