A Focal Form of Diazoxide-resistant Congenital Hyperinsulinism with Good Response to Long-acting Somatostatin.

Abstract

A four-year-old female who was born term via spontaneous vaginal delivery (SVD) with a birth weight of 3.4 kg had an onset of persistent hypoglycaemia at the 6^th hour of life. She was diagnosed with congenital hyperinsulinism based on high glucose load, negative ketone and a good response to glucagon. Genetic workup revealed the presence of ATP Binding Cassette Subfamily C Member 8 (ABCC8 genes) mutation which indicated a focal form of congenital hyperinsulinism. She was resistant to the standard dose of oral diazoxide but responded to subcutaneous somatostatin. At the age of 3 years and 6 months, multiple daily injections of somatostatin were replaced with a long-acting monthly somatostatin analogue. With the present treatment, she had better glycaemic control, normal growth and was able to stop tube feeding.