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Congenital hyperinsulinemic hypoglycaemia in a neonate: a rare homozygous ABCC8 gene mutation

Chandra Prabha1, Shalini Tripathi2, Arpita Bhriguvanshi2

  • 1Pediatrics, King George's Medical University, Lucknow, Uttar Pradesh, India dr.chandraprabha9@gmail.com.

BMJ Case Reports
|May 11, 2025
PubMed

Insights

Congenital hyperinsulinism (CHI) is a rare cause of persistent hyperinsulinemic hypoglycemia in infants. Genetic diagnosis and timely management, including octreotide and cornstarch, are crucial for preventing neurological issues.

Area of Science:

  • Pediatric Endocrinology
  • Medical Genetics
  • Neonatology

Background:

  • Hyperinsulinemic hypoglycemia (HH) is a serious condition in neonates and infants.
  • Congenital hyperinsulinism (CHI) arises from genetic defects in pancreatic beta-cells, affecting KATP channels.
  • ABCC8 and KCNJ11 are key genes implicated in CHI.

Purpose of the Study:

  • To present a case of congenital hyperinsulinism in a neonate.
  • To highlight the diagnostic and therapeutic challenges and outcomes.
  • To emphasize the importance of genetic testing and tailored management.

Main Methods:

  • Clinical case presentation of a neonate with persistent hypoglycemia.
  • Genetic analysis identifying a homozygous pathogenic variant in the ABCC8 gene.
  • Management strategies including glucose infusions, diazoxide, octreotide, and cornstarch therapy.

Main Results:

  • A neonate diagnosed with CHI due to a homozygous ABCC8 variant (c.4253G>A, p.Arg1418His).
  • Initial refractoriness to standard treatments.
  • Successful response to octreotide therapy, cornstarch, and careful feeding regimen, avoiding surgery.

Conclusions:

  • Genetic diagnosis is essential for identifying the cause of congenital hyperinsulinism.
  • Timely and individualized management, including novel therapeutic approaches, can prevent severe complications.
  • This case highlights the efficacy of octreotide and cornstarch in managing refractory CHI.

Keywords:
Neonatal healthPaediatrics

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