Garuda Rama1

BACKGROUND: Congenital hyperinsulinism causing hypoglycemia

CASE CHARACTERISTICS: 1yr child with hypoglycemic convulsion. OBSERVATION: High insulin levels on fasting, hyperammonemia, diffuse hyperplasia of pancreas on PET dopa scan.

OUTCOME: Good response to frequent glucose feeds and diazoxide

MESSAGE: Any child presenting with convulsion needs blood sugar estimation and hypoglycemia if any, should be thoroughly investigated. Congenital hyperinsulinism comprises a group of different genetic disorders with the common finding of recurrent episodes of hyperinsulinemic hypoglycemia due to inappropriate secretion of insulin by pancreatic β-islet cells. Hyperammonemia hyperinsulinism is due to type-3 diffuse hyperinsulinism transmitted as autosomal dominant due to mutation in glutamate dehydrogenase gain of function mutation.1, 2