Persistent Hyperinsulinemic Hypoglycemia in Infancy-A Case Report

Jamuna Kalpana,Lalitha Krishnan,Nishanth Rajan,Sundaramoorthy Gopi,Venkatesan Radha,Vishwanathan Mohan

doi:10.3126/jnps.v41i1.30806

Abstract

    Persistent hyperinsulinemic hypoglycemia of infancy (PHHI) is one of the commonest reasons for severe, intractable hypoglycemia in neonates. Dysregulated insulin secretion is the major underlying pathogenesis which results in hyperinsulinemia, hypoketonemia and hypofatty acidemia. The management is extremely complicated. Early diagnosis and aggressive management of hyperinsulinemic hypoglycemia is essential for prevention of hypoglycemia induced neuronal injury. Here we describe a baby diagnosed as PHHI who was unresponsive to medical management with diazoxide and underwent near total pancreatectomy. Genetic work up revealed a homozygous termination mutation in ABCC8 gene at amino acid position 1452 with heterozygosity in both parents.   

Highlights

Persistent hyperinsulinemic hypoglycemia of infancy (PHHI) is rare but one of the commonest reasons for severe, intractable hypoglycemia in neonates
Underlying pathology is dysregulated insulin secretion resulting in hypoglycemia and suppression of lipolysis.[1]
We describe a case of PHHI who had presented to us with HIE

Summary

INTRODUCTION

Persistent hyperinsulinemic hypoglycemia of infancy (PHHI) is rare but one of the commonest reasons for severe, intractable hypoglycemia in neonates. At 20 hours of life, baby developed seizures and became cyanosed. On admission, she was profoundly hypoglycemic with undetectable blood sugar levels. She was profoundly hypoglycemic with undetectable blood sugar levels She was immediately commenced on glucose infusion at 8 mg/kg/min and increased sequentially to 12 mg/kg/min and to 20 mg/kg/min. The blood sugar values dropped further and the baby was given two doses of hydrocortisone and diazoxide was added at 15 mg/kg/day. Octreotide was started and by 12th day of life, blood sugar levels were under control. Both parents, who are first cousins, have been found to be heterozygous for the same condition In this case parents have been counselled for identifying mutation in the foetus

DISCUSSION

Findings

CONCLUSIONS