WOFAPS 2025 8th World Congress of Pediatric Surgery

İlayda Ser, Meltem Kaba, Mesut Demir, Nihat Sever, zeynab Mirhashimli, Abdullah Yıldız, Çetin Ali Karadağ

Health Sciences University, Şişli Hamidiye Etfal SUAM, Pediatric Surgery Departmant, Istanbul

Objective: Congenital Hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infants unresponsive to standard hypoglycemia therapy and is associated with a high risk of neurodevelopmental complications. The first step in the etiological differential diagnosis of CHI is evaluating the response to diazoxide. In cases unresponsive to diazoxide, the second step is to determine whether the anomaly in pancreatic insulin regulation is focal or diffuse. Although both forms of CHI present with similar clinical features, they originate from different pathophysiological mechanisms and are managed differently. This study presents the management approaches of two cases who underwent pancreatectomy in our clinic with the diagnosis of focal and diffuse CHI.

Case 1: A term infant weighing 3160 g presented to the emergency department with convulsions on the 5th postnatal day. Blood glucose was measured at 13 mg/dL. The patient initially received intravenous glucose infusion and phenobarbital. Due to lack of response to diazoxide initiated for hyperinsulinemic hypoglycemia, genetic analysis was performed and revealed a paternally inherited ABCC8 gene mutation. [18F]-DOPA PET-CT showed a suspicious area in the pancreatic tail suggestive of focal hyperplasia. Partial pancreatectomy was performed. The patient was discharged on postoperative day 13 in a normoglycemic and uneventful condition.

Case 2: A term infant born to consanguineous parents and a gestational diabetic mother, weighing 4270 g, was admitted to the neonatal intensive care unit due to respiratory distress. During follow-up, blood glucose was found to be 53 mg/dL. Hyperinsulinemic hypoglycemia resistant to diazoxide was detected, and genetic analysis revealed a homozygous ABCC8 gene mutation, consistent with diffuse CHI. As no response was achieved with octreotide and lanreotide, a 95% subtotal pancreatectomy was performed. The patient was discharged on postoperative day 22, normoglycemic and without complications.

Conclusion: This case report highlights the diagnostic and therapeutic differences between focal and diffuse CHI. In diffuse CHI, advanced preoperative imaging is generally unnecessary, and subtotal pancreatectomy is the treatment of choice when medical therapy fails. In cases with suspected focal CHI or inconclusive genetic analysis, [18F]-DOPA PET-CT is indicated. Excision of the localized lesion or partial pancreatectomy is sufficient in such cases.