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Case report
Focal congenital hyperinsulinism resulting from biallelic loss of function of KCNJ11 gene
  1. Reema Garegrat1,
  2. Suprabha Patnaik1,
  3. Pradeep Suryawanshi2 and
  4. Chaitanya Datar1
  1. 1Department of Neonatology, Bharati Hospital and Research Centre, Pune, Maharashtra, India
  2. 2Neonatology, Bharati Vidyapeeth University, Pune, Maharashtra, India
  1. Correspondence to Dr Reema Garegrat; coolreem18{at}yahoo.com

Abstract

Congenital hyperinsulinism (CHI) characterised by inappropriate secretion of insulin despite low blood glucose can result in irreversible brain damage if not promptly treated. The most common genetic cause of hyperinsulinism is the pathogenic variants in ABCC8 and KCNJ11, causing dysregulated insulin secretion. Rapid testing is crucial for all patients because finding a mutation significantly impacts this condition’s clinical management. We report a rare case of focal CHI after a homozygous KCNJ11 mutation who underwent a selective lesionectomy and required octreotide for euglycaemia.

  • endocrinology
  • diabetes
  • genetics
  • neonatal health

https://doi.org/10.1136/bcr-2020-240218

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    Footnotes

    • Contributors RG and SP: Contributed to the concept and design, acquisition and analysis of data, drafting and revising the article. PS and CD: Contributed to the study design, interpretation of data and revising the article for intellectual content. All authors contributed to the final approval of the version to be published.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Patient consent for publication Parental/guardian consent obtained.

    • Provenance and peer review Not commissioned; externally peer-reviewed.