Persistent Hyperinsulinemic Hypoglycemia of Infancy: A Rare Case with Multiple Anomalies

Background: Few cases of persistent hyperinsulinemic hypoglycemia of infancy (PHHI) have been reported, so far. The main concern in the management of PHHI is to prevent severe hypoglycemia, which can lead to coma, brain damage and mental retardation. Total or subtotal pancreatectomy is normally required for the infants, despite the availability of medical therapies. Case report: In this report, we present the case of a three-day-old male infant with hypoglycemia and seizure, admitted to a hospital in Mashhad with the diagnosis of PHHI. Further evaluations revealed multiple congenital disorders including dextrocardia, posterior communicating aneurysm, atrial septal defect, ventricular septal defect, situs inversus and asplenia. Maximal doses of diazoxide, octreotide and intravenous glucose were prescribed for the infant. The patient was referred to our hospital and subtotal pancreatectomy was performed. In addition, due to frequent hypoglycemic episodes, a near-total pancreatectomy was conducted six days after the first surgery. The patient died eight months after total pancreatectomy at the age of nine months with no follow-ups. Conclusion: Infants with PHHI are at a high risk of severe neurological damage due to severe hypoglycemia, unless immediate and adequate medical interventions are carried out. Considering the co-occurrence of different congenital anomalies and PHHI in the present case, further assessment of concomitant congenital disorders is highly recommended in PHHI patients.