Introduction: Congenital hyperinsulinism (CHI) is a rare genetic disorder that is characterised by persistent hypoglycaemia in infants and children. We are reporting a rare case of diffuse CHI who was also found to have hypopituitarism and several other congenital anomalies. A similar association has not been reported in literature.
Case: A female baby was born at 42 weeks gestation with a birth weight of 4.185 kg (1.72SDS). She suffered shoulder dystocia and was ventilated for 12 days. Her persistent hypotension, hyponatremia and hypoglycaemia triggered further investigations. She was noted to have low free T4 (5.3 pmol/l), undetectable TSH (<0.03 μ/l) and plasma cortisol (<50 nmol/l). She was commenced on T4 and hydrocortisone. Her glucose requirement remained high at 20 mg/kg per min and a hypoglycaemia screen revealed raised insulin (90 pmol/l) and suppressed free fatty acids and ketones during hypoglycaemia confirming CHI. The hypoglycaemia was initially managed with high concentration dextrose infusion and intravenous glucagon. She was subsequently started on Diazoxide but developed cardiac failure; therefore it was replaced by subcutaneous Octreotide injections. This was later discontinued due to liver dysfunction. Genetic analysis was negative for ABCC8, KCNJ11 and HNF4A mutations and microarray was normal. She was also noted to have pulmonary stenosis requiring balloon dilatation, unilateral choroidal coloboma, and facial dysmorphic features including single median incisor. MRI brain showed hypoplastic anterior pituitary gland with absent posterior pituitary and 18F DOPA PET CT scan showed a diffuse pancreatic lesion. She is now 3 year old and managed with continuous gastrojejunostomy feeds, hydrocortisone, T4 and growth hormone.
Conclusion: We report a rare association of diffuse persistent CHI and hypopituitarism in a patient with several other associated anomalies with probably an unidentified genetic aetiology. The described case highlights the importance of maintaining a high degree of suspicion for alternative diagnoses in infants diagnosed with hypopituitarism but have persistent hypoglycaemia.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology