Persistent Hyperinsulinemic Hypoglycemia in Infancy-A Case Report

Authors

  • Nishanth Rajan Department of Paediatrics, Pondicherry Institute of Medical Sciences, Puducherry, India
  • Jamuna Kalpana Department of Molecular Genetics, Madras Diabetes Research Foundation, Chennai, India
  • Sundaramoorthy Gopi Department of Molecular Genetics, Madras Diabetes Research Foundation, Chennai, India
  • Vishwanathan Mohan Department of Molecular Genetics, Madras Diabetes Research Foundation, Chennai, India and Dr. Mohan's Diabetes Specialities Centre, Chennai, India
  • Venkatesan Radha Department of Molecular Genetics, Madras Diabetes Research Foundation, Chennai, India
  • Lalitha Krishnan Department of Paediatrics, Pondicherry Institute of Medical Sciences, Puducherry, India

DOI:

https://doi.org/10.3126/jnps.v41i1.30806

Keywords:

ABCC8 mutation; diazoxide; Hypoglycemia; hyperinsulinemia

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.

Downloads

Download data is not yet available.
Abstract
450
PDF
424
Cover JNPS

Downloads

Published

2021-04-24

How to Cite

Rajan, N., Kalpana, J., Gopi, S., Mohan, V., Radha, V., & Krishnan, L. (2021). Persistent Hyperinsulinemic Hypoglycemia in Infancy-A Case Report. Journal of Nepal Paediatric Society, 41(1), 107–110. https://doi.org/10.3126/jnps.v41i1.30806

Issue

Vol. 41 No. 1 (2021)

Section

Case Reports

License

Authors who publish with this journal agree to the following terms:

Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.

Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.

Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access).