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Persistent hyperinsulinaemic hypoglycaemia of infancy: case report
1Department of Paediatrics, Pamukkale University, School of Medicine, Denizli, Turkey.
Insights
Persistent hyperinsulinaemic hypoglycaemia of infancy is a rare condition. This case study details a successful subtotal pancreatectomy and octreotide treatment for a neonate with this challenging diagnosis.
Area of Science:
- Pediatric Endocrinology
- Neonatal Medicine
- Metabolic Disorders
Background:
- Persistent hyperinsulinaemic hypoglycaemia of infancy (PHI) is the most common cause of persistent neonatal hypoglycemia.
- PHI presents significant long-term management challenges due to recurrent hypoglycemia.
Observation:
- A male neonate presented with recurrent convulsions and lethargy at three months old.
- Initial investigations revealed severe hypoglycemia (24 mg/dl) with inappropriately high insulin levels, ketonuria absence, and high glucose infusion requirements.
- Despite maximal medical management including prednisone, diazoxide, and octreotide, normoglycemia was not achieved.
Findings:
- A diagnosis of persistent hyperinsulinaemic hypoglycaemia of infancy was confirmed.
- A subtotal (80%) pancreatectomy was performed, followed by continued intermittent hypoglycemic episodes.
- Post-operative management with low-dose octreotide effectively controlled residual hypoglycemia. Histology confirmed diffuse adenomatous hyperplasia (nesidoblastosis).
Implications:
- Subtotal pancreatectomy combined with targeted medical therapy can be effective in managing severe PHI.
- Early diagnosis and intervention are crucial for improving long-term outcomes in infants with PHI.
- This case highlights the utility of octreotide in managing refractory hyperinsulinemic hypoglycemia post-surgery.
Abstract:
Hyperinsulinism, although rare, is the most common cause of persistent hyperinsulinaemic hypoglycaemia in infancy. Because of persistent hypoglycaemia, serious difficulties are encountered in the long term management of this condition. A male neonate, after an uncomplicated full-term pregnancy, had been admitted to another hospital with convulsions on the third post-natal day. Meningitis had been suspected at that time and treated with phenobarbital and he had been discharged from the hospital. At three-months old he was referred to our department for persistent convulsions and lethargy. His parents were of 1st degree consanguinity. His blood glucose level was found to be 24 mg/dl (1.33 mmol/L). Because of the dangerously high insulin level during hypoglycaemia (insulin/glucose > 0.3), the absence of ketonuria, and the need for a high dose of glucose infusion (> 15 mg/kg/min) to achieve normoglycaemia and a glycaemic response to glucagon despite the hypoglycaemia, a diagnosis of persistent hyperinsulinaemic hypoglycaemia of infancy was made. Since maximal doses of prednisone, glucagon, diazoxide, octreotide and high infusion of glucose were ineffective in achieving normoglycaemia, a subtotal (80%) pancreatectomy was done. Postoperatively intermittent hypoglycaemic episodes continued. These were controlled with low doses of octreotide. Histology revealed diffuse adenomatous hyperplasia (nesidoblastosis). The boy is now in the sixth post-operative month and developing normally.