Short term outcome of congenital hyperinsulinism: case series

Results Five infants were reported. Hypoglycaemic seizure was the commonest presenting feature. All had detectable insulin level (>5 mU/l) during hypoglycaemic episodes and high glucose requirement (>10 mg/kg/min). Three patients were found to have genetic mutation associated with CH. Patient 1 had hyperammonaemia hyperinsulinism syndrome and corresponded missense mutation of GLUD1 gene. For past 2.5 years, there was good response to diazoxide treatment. Patient 2 had diffuse disease with homozygous mutation at the ABCC8 gene. She presented at birth with severe disease and required combination of medications including octreotide. It was complicated by epilepsy, and developmental milestones were mildly delayed. Patient 3 inherited a heterozygous mutation in the KCNJ11 gene from the father (presumed focal disease). He responded only to octreotide and showed normal development at nine months old. Another two patients had no common mutation detected. Patient 4 required combination of therapy initially, but subsequently treated with diazoxide alone and weaned off nasogastric feeding at five years old. Patient 5 had features suggestive of Beckwith-Wiedemann syndrome and did not respond to all medical therapy. Pancreatectomy was performed at 3 months old and he died from complications of surgery.