Effective Management of a Diffuse form of a Congenital Hyperinsulinism Due to a ABCC8 Mutation with a Combination of Diazoxide and Somatostatin Analogue (A Case Report)

Congenital hyperinsulinism (CHI) is a rare genetic disorder characterized by inappropriate and excessive insulin secretion, leading to severe, recurrent hypoglycemia in neonates, with significant neurological risks. We report a clinical case of a male neonate with a severe form of CHI, diagnosed through genetic analysis, who presented with diazoxide-resistant hypoglycemia and was successfully managed with the somatostatin analog, octreotide. Genetic testing revealed a homozygous mutation in the ABCC8 gene, confirming a diffuse form of CHI. Despite initial treatment with diazoxide, the neonate continued to experience severe hypoglycemic episodes. The addition of octreotide allowed for glycemic stabilization, reduced the need for continuous glucose infusion, and eventually led to the discontinuation of diazoxide. This case underscores the effectiveness of octreotide as a second-line treatment in managing diazoxide-resistant CHI and highlights the importance of early genetic diagnosis, personalized treatment strategies, and the potential of octreotide in avoiding the need for pancreatic surgery. Further research is needed to solidify the long-term safety and efficacy of octreotide in treating CHI and to optimize management protocols for this challenging condition.