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A case of CHARGE syndrome associated with hyperinsulinemic hypoglycemia in infancy

Kazuhito Sekiguchi1, Tomoyo Itonaga1, Tomoki Maeda1

  • 1Department of Pediatrics, Oita University Faculty of Medicine, Oita, Japan.

European Journal of Medical Genetics
|January 23, 2018
PubMed

Insights

CHARGE syndrome, a rare disorder, can present with persistent hyperinsulinemic hypoglycemia due to CHD7 gene mutations. This case highlights a novel mutation and its metabolic implications.

Area of Science:

  • Genetics
  • Endocrinology
  • Pediatrics

Background:

  • CHARGE syndrome is a rare, complex genetic disorder affecting multiple organ systems.
  • Mutations in the Chromodomain Helicase DNA Binding Protein-7 (CHD7) gene are a primary cause of CHARGE syndrome.

Observation:

  • A male infant diagnosed with CHARGE syndrome exhibited persistent hypoglycemia and poor sucking ability.
  • The infant presented with inappropriately high insulin and low growth hormone levels during hypoglycemic episodes.

Findings:

  • Genetic analysis revealed a novel heterozygous monoallelic CHD7 mutation (c.2990delT) in the patient.
  • Growth hormone therapy partially improved glucose levels, but hyperinsulinemic hypoglycemia persisted, requiring diazoxide treatment.

Implications:

  • This case demonstrates that CHD7 mutations in CHARGE syndrome can lead to persistent hyperinsulinemic hypoglycemia.
  • It suggests a link between chromatin remodeling aberrations and dysmorphic syndromes presenting with hyperinsulinemic hypoglycemia.

Keywords:
CHARGE syndromeCHD7DiazoxideHyperinsulinemic hypoglycemia

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