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Focal congenital hyperinsulinism in a patient with septo-optic dysplasia
Raja Padidela1, Ritika R Kapoor, Yuva Moyo
1Clinical and Molecular Genetics Unit, UCL Institute of Child Health and Great Ormond Street Hospital for Children, 30 Guilford Street, London WC1N 1EH, UK.
Insights
This study details a case of congenital hyperinsulinism in an infant with hypopituitarism, successfully managed through pancreatic surgery and hormone replacement therapy.
Area of Science:
- Pediatric Endocrinology
- Metabolic Disorders
- Genetics
Background:
- An infant with hypopituitarism presented with severe, persistent hypoglycemia requiring high-dose intravenous glucose.
- Standard hydrocortisone replacement therapy was insufficient to maintain euglycemia.
Observation:
- A controlled hypoglycemia screen revealed abnormal glucose, insulin, C-peptide, and 3-β-hydroxybutyrate levels.
- Fluorine-18-L-3,4-dihydroxyphenylalanine (18F-DOPA) PET scan identified a focal pancreatic lesion.
- Genetic analysis and microsatellite analysis investigated potential causes and loss of heterozygosity.
Findings:
- The infant was diagnosed with a focal form of congenital hyperinsulinism localized to the pancreatic head, alongside septo-optic dysplasia and pituitary hormone deficiencies.
- Surgical resection of the focal pancreatic lesion was performed.
Implications:
- This case highlights the importance of a comprehensive diagnostic approach for infants with combined endocrine disorders.
- Successful management involved both surgical intervention for hyperinsulinism and hormonal replacement for hypopituitarism.
- Early diagnosis and tailored treatment are crucial for improving outcomes in complex pediatric endocrine cases.
Background:
An infant diagnosed as having hypopituitarism and on adequate hydrocortisone replacement therapy was referred to a tertiary endocrine unit at 5 weeks of age with persistent hypoglycemia that required a high rate of intravenous glucose infusion (up to 18 mg/kg•min⁻¹) to maintain euglycemia.
Investigations:
A controlled hypoglycemia screen was performed to measure levels of plasma glucose, insulin, C-peptide and 3-β-hydroxybutyrate concentrations. The pancreas was analyzed by fluorine-18-L-3,4-dihydroxyphenylalanine ((18)F-DOPA) PET scan. Genetic analyses were performed on the peripheral blood leukocytes, and loss of heterozygosity within the resected focal lesion of the pancreas was investigated by microsatellite analysis. A glucagon stimulation test helped determine pituitary function, and an MRI of the brain and pituitary gland was performed to define the anatomy of the intracranial structures and the pituitary gland.
Diagnosis:
Focal form of congenital hyperinsulinism localized to the head of the pancreas, septo-optic dysplasia and pituitary hormone deficiencies.
Management:
Resection of the focal lesion from the head of the pancreas and hormonal replacement therapy for hypopituitarism.
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