Congenital hyperinsulinism: diagnostic and management challenges in a developing country - case report

Area of Science:

• Pediatric Endocrinology
• Nuclear Medicine
• Surgical Gastroenterology

Background:

• Congenital hyperinsulinemia of infancy (CHI) presents with persistent hypoglycemia and elevated insulin levels, posing significant management challenges.
• Accurate localization of the affected pancreatic tissue is crucial for effective treatment, often requiring advanced imaging techniques.
• Paternal inheritance is a recognized indicator of focal CHI, guiding diagnostic and therapeutic strategies.

Purpose of the Study:

• To describe the diagnostic and management pathway of a challenging case of congenital hyperinsulinemia of infancy.
• To evaluate the utility of Gallium-68 DOTANOC positron emission tomography/computed tomography (PET/CT) in localizing pancreatic abnormalities in CHI.
• To discuss the implications of limited diagnostic and therapeutic resources in developing countries for managing CHI.

Main Methods:

• A 4-month-old infant diagnosed with CHI underwent evaluation including genetic studies and Gallium-68 DOTANOC PET/CT scan.
• The patient received diazoxide therapy followed by a laparoscopic subtotal pancreatectomy.
• Immunohistochemistry was performed on the pancreatic biopsy to determine the nature of the disease (focal vs. diffuse).

Main Results:

• Gallium-68 DOTANOC PET/CT scan suggested focal disease in the pancreatic body, supported by paternal inheritance.
• Diazoxide therapy provided only partial improvement in blood glucose levels.
• Post-surgical biopsy revealed diffuse hyperplastic pancreatic islet cells, indicating diffuse CHI, contrary to the initial imaging findings.

Conclusions:

• The study highlights the potential discrepancy between imaging findings and histopathology in CHI, emphasizing the complexity of diagnosis.
• Gallium-68 DOTANOC PET/CT is a valuable imaging tool for CHI, especially where 18F-L-DOPA PET/CT is unavailable.
• Limited access to diagnostic tools and medications like diazoxide complicates CHI management in developing nations, necessitating tailored approaches.