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[Persistent hyperinsulinemic hypoglycemia of infancy: case report]

D F Lazarine1, M M Pahl, D Damiani

  • 1Universidade de São Paulo (USP), SP, Brazil.

Jornal De Pediatria
|December 4, 2003
PubMed
Summary

This case report details Persistent Hyperinsulinemic Hypoglycemia in twins, a rare condition causing seizures. Early diagnosis and treatment are crucial to prevent neurological damage in infants.

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Area of Science:

  • Pediatric Endocrinology
  • Neonatology
  • Genetics

Background:

  • Persistent Hyperinsulinemic Hypoglycemia (PHHI) is a rare cause of infant hypoglycemia.
  • Consanguinity in parents can increase the risk of genetic metabolic disorders.
  • Hypoglycemia in infants, especially twins, requires thorough etiological investigation.

Purpose of the Study:

  • To report a unique case of Persistent Hyperinsulinemic Hypoglycemia in identical twins.
  • To highlight the importance of early diagnosis and management of PHHI.
  • To emphasize the association between consanguinity and PHHI.

Main Methods:

  • Case report of identical twins presenting with seizures due to hypoglycemia.
  • Comprehensive laboratory investigations including hormone levels and stimulation tests.

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  • Histopathological examination of pancreatic tissue.

    • Main Results:

    • Confirmed persistent hypoglycemia with hyperinsulinism in both twins.
    • Glucagon stimulation test validated the insulin/glucose imbalance.
    • Pancreatic histopathology confirmed Nesidioblastosis (now termed PHHI).

    Conclusions:

    • PHHI, though rare, should be suspected in infantile hypoglycemia, particularly in twins and offspring of consanguineous parents.
    • Prompt initiation of appropriate therapy is vital to prevent long-term neurological sequelae.
    • This case underscores the need for heightened clinical suspicion in non-neonatal hypoglycemia presentations.