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Congenital hyperinsulinism in a newborn presenting with poor feeding

Kiran Mazloom1, Pedro A Sanchez-Lara2, Seth Langston3

  • 1College of Osteopathic Medicine of the Pacific, Western University of Health Sciences, Pomona, CA, USA.

SAGE Open Medical Case Reports
|April 4, 2022
PubMed

Insights

Congenital hyperinsulinism causes persistent hypoglycemia in infants, potentially leading to severe brain injury. A novel genetic variant was identified in a unique case, underscoring early diagnosis importance.

Area of Science:

  • Endocrinology
  • Genetics
  • Pediatrics

Background:

  • Hyperinsulinemic hypoglycemia involves dysregulated insulin secretion, posing risks to infant brain development.
  • Persistent hypoglycemia and hypoketosis in infants can lead to severe neurological damage like epilepsy and cerebral palsy.
  • Congenital hyperinsulinism is the primary cause of persistent hypoglycemia in neonates and children.

Observation:

  • A case study details an infant with a unique presentation of hyperinsulinism.
  • This infant was found to have a novel genetic variant responsible for the condition.
  • The presentation involved poor feeding in the newborn period.

Findings:

  • A novel genetic variant was identified as the cause of congenital hyperinsulinism in the presented case.
  • This finding expands the known genetic causes of hyperinsulinism.
  • The case highlights a unique clinical presentation.

Implications:

  • Early recognition and treatment of congenital hyperinsulinism are crucial to prevent neurological sequelae.
  • A broad differential diagnosis, including congenital hyperinsulinism, is important for infants with poor feeding.
  • Identifying novel genetic variants aids in understanding the pathophysiology and improving diagnostic approaches for hyperinsulinism.

Keywords:
Diabetes/endocrinologyhyperinsulinismpharmacoepidemiology/drug safetypoor feedingwomen’s health

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